Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change: Description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
Protein: Description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
Zygosity: Homozygous or Heterozygous
All options:
- Homo
- Hetero
- Not specified
Co_ocurrence: If the variant is present in co-ocurrence with a mutation, please select the name of the mutated gene. If not, please select "no".
All options:
- no
- N/A
- BRCA1
- BRCA2
- CHEK2
- FANCC
- MLH1
- MSH2
- MSH6
- MUTYH
- PALB2
- PMS2
- PTEN
- APC
- TP53
- STK11
- TSC1
- RET
- VHL
- PALB2
- NBN
- CDKN2A
- LZTR1
- ATM
- ERCC5
- NF1
- SDHB
- BARD1
- NTHL1
- FANCC
- BLM
- BRIP1
- RAD51C
- GJB2
- G6PC
- SMN1
Review status: prueba
Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg38): Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
- g.12345678C>T
- g.12345678_12345890del
- g.12345678_12345890dup
Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
dbSNP ID: The dbSNP ID.
Variant remarks: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Template: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
- DNA
- RNA = RNA (cDNA)
- Protein
- ? = unknown
Technique: Technique(s) used to identify the sequence variant.
All options:
- ? = Unknown
- SEQ-NG = Next-Generation Sequencing
- SEQ = SEQuencing
- MLPA = Multiplex Ligation-dependent Probe Amplification
- SEQ-NG-H = Next-Generation Sequencing - Helicos
- SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
- SEQ-NG-R = Next-Generation Sequencing - Roche/454
- SEQ-NG-S = Next-Generation Sequencing - SOLiD
- arrayCGH = array for Comparative Genomic Hybridisation
- arraySEQ = array for resequencing
- arraySNP = array for SNP typing
- arrayCNV = array for Copy Number Variation (SNP and CNV probes)
- BESS = Base Excision Sequence Scanning
- CMC = Chemical Mismatch Cleavage
- CNV
- CSCE = Conformation Sensitive Capillary Electrophoresis
- DECoN = Detection of Exon Copy Number variants
- DGGE = Denaturing-Gradient Gel-Electrophoresis
- DHPLC = Denaturing High-Performance Liquid Chromatography
- DOVAM = Detection Of Virtually All Mutations (SSCA variant)
- ddF = dideoxy Fingerprinting
- DSCA = Double-Strand DNA Conformation Analysis
- EMC = Enzymatic Mismatch Cleavage
- HD = HeteroDuplex analysis
- MCA = high-resolution Melting Curve Analysis (hrMCA)
- IHC = Immuno-Histo-Chemistry
- MAPH = Multiplex Amplifiable Probe Hybridisation
- Northern = Northern blotting
- PCR = Polymerase Chain Reaction
- PCRdig = PCR + restriction enzyme digestion
- PCRlr = PCR, long-range
- PCRm = PCR, multiplex
- PCRq = PCR, quantitative
- PAGE = Poly-Acrylamide Gel-Electrophoresis
- PTT = Protein Truncation Test
- PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
- RT-PCR = Reverse Transcription and PCR
- SBE = Single Base Extension
- SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
- SSCAf = SSCA, fluorescent (SSCP)
- Southern = Southern blotting
- TaqMan = TaqMan assay
- Western = Western Blotting
- in-house algorithm for CNV
- z-score-CNV = z-score based algorithm for CNV detection in targeted NGS
Date of test: Date in which the results of the test were informed to the pacient
Lab: Name of the Laboratory that performed the screening.
All options:
- ARGENETICS
- ARGENOMICS - Fundacion Investigar
- Biocodices S.A.
- Biogenotec
- BIOMAKERS Molecular Pathology & Research
- Bionet
- Centro de Diagnostico Molecular (CDM)
- Centro de Educación Médica e Investigaciones Clínicas (CEMIC)
- Centro de Estudios Geneticos (CEG)
- Centro de Investigaciones Endocrinologicas “Dr. Cesar Bergada” (CEDIE)
- Centro Nacional de Genetica Medica "Dr. Eduardo E. Castilla" (CENAGEM)
- Centro Privado Internacional de Medicina Personalizada - CEPIMP Genomics
- CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
- CITOGEN.LAB
- Clínica Universitaria Reina Fabiola
- Dasa Genómica - Genia
- Diagnus Lab
- Domeq&Lafage
- Fundacion BIOGEN
- Fundación para el Progreso de la Medicina
- FUNDAGEN S.A.
- Gammalab - Grupo Gamma S.A.
- GENDA
- Genesia - Progenitest
- Genologica laboratorio de análisis genéticos
- GENOS
- Grupo de investigacion en Genetica Aplicada (GIGA)
- Hospital Alemán
- Hospital de Gastroenterología Dr. Carlos Bonorino Udaondo
- Hospital Italiano de Buenos Aires
- Hospital Privado Centro Médico de Córdoba
- Hospital Universitario Austral
- IACA Laboratorios
- IBC Laboratorios
- Instituto Alexander Fleming
- Laboratorio Barros
- Laboratorio de Biologia Celular y Molecular IHEM-CONICET CCT Mendoza
- Laboratorio de Medicina Genomica - Facultad de Medicina - UNNE
- Laboratorio Dr. Rapela
- Laboratorio Dra. Marta Cortelezzi
- Laboratorio Fares Taie
- Laboratorio Flores
- Laboratorio Hidalgo S.A.
- Laboratorio High Medic Group S.A.
- Laboratorio Integral SRL
- Laboratorio Maipu
- Laboratorio Motter
- Laboratorio NANNI
- Laboratorio PampaGEN
- Laboratorio Tucumán
- Laboratorios Turner
- LACE Laboratorios
- LEB (Laboratorio de Especialidades Bioquimicas)
- MANLAB
- MEDgenomica
- PRICAI-Primer Centro Argentino de Inmunogenética-Fundación Favaloro
- Sanatorio Allende
- Stamboulian Laboratorio
- STEM
- VZ Laboratorios
- Zoigen
- AMBRY GENETICS
- Baylor Genetics
- Blueprint Genetics
- CENTOGENE
- COLOR
- GENE ONE
- Health in code
- Iden Gene
- IMEGEN
- INVITAE
- Laboratorio ATGen (E)
- Laboratorio ATGen
- MACROGEN
- Myriad Genetics
- SENTIS
- Sistemas Genómicos
- ------
- Color
- Genda
- Genda/Color
- Genesia
- Genesia/Invitae
- Genia/Invitae
- Genia/Color
- Genia
- Genos
- Genos/Color
- Hospital Privado Centro Médico de Córdoba
- Hospital Privado Centro médico de Córdoba/IACA
- Héritas
- IACA
- Invitae
- AbaCid
- Ambry Genetics
- Alexander Fleming
- Alexander Fleming/Baylor College
- Alexander Fleming/Genesia-INVITAE
- Argenomics
- Baylor Genetics
- BIOGEN
- Biogenotec
- BIOMAKERS Molecular Pathology & Research
- BIONET
- Blueprint Genetics
- CEDIE
- CEG
- CEMIC
- Centro de diagnóstico molecular
- CEPIMP Genomics
- CeNaGeM
- Centogene
- CIBIC
- CIBIC/Héritas
- Ciscato&Sharovsky
- Clinica Universitaria Reina Fabiola
- DIAGNUS LAB
- Domeq&Lafage
- Dr. Rapela
- Fares Taie
- FARESTAIE/Héritas
- FAVALORO-PRICAI
- Fundación para el Progreso de la Medicina
- Fundación para el Progreso de la Medicina/CIBIC/Héritas
- Fundagen
- Gammalab
- GeneDx
- GIGA
- Health in code
- Hidalgo
- High Medic Group
- Hospital Alemán
- Hospital de Gastroenterologia
- Sanatorio Allende
- MEDgenomica
- LACE
- HEMA
- Centro médico de Córdoba
- DASA-INVITAE
- Bioscreen Rosario
- x
Remarks: Remarks
Type of test: Type of test
All options:
- Known familial mutation
- Multigenetic panel
- Specific pathology
- Ashkenazi panel
- Germline variant found in somatic testing
- Whole exome
Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Remarks: Remarks about the individual.
Cuadro familiar: Principales canceres que motivan la sospecha clinica
Effect
|
Exon
|
DNA change (cDNA)
|
RNA change
|
Protein
|
Zygosity
|
Co_ocurrence
|
Review status
|
Allele
|
DNA change (genomic) (hg38)
|
Reference
|
DB-ID
|
dbSNP ID
|
Variant remarks
|
Template
|
Technique
|
Date of test
|
Lab
|
Remarks
|
Type of test
|
Disease
|
Ethnic origin
|
Reference
|
Remarks
|
Cuadro familiar
|
Panel size
|
Owner
|
-/- |
5'UTR |
c.-848A>G |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43126099T>C |
- |
BRCA1_000030 |
- |
- |
DNA |
SEQ-NG |
3-mar-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-20+101C>G |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43125170G>C |
- |
BRCA1_000031 |
- |
- |
DNA |
SEQ-NG |
3-mar-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
22-sep-2016 |
Alexander Fleming |
- |
- |
- |
Portuguese |
- |
- |
- |
1 |
Luisina Bruno-Instituto Fleming |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
13-feb-2017 |
Alexander Fleming |
- |
- |
- |
Ashkenazi-Sephardic |
- |
- |
- |
1 |
Luisina Bruno-Instituto Fleming |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
13-feb-2017 |
Alexander Fleming |
- |
- |
- |
Austrian |
- |
- |
- |
1 |
Luisina Bruno-Instituto Fleming |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
5-dic-2016 |
Alexander Fleming |
- |
- |
- |
Spanish-Italian |
- |
- |
- |
1 |
Luisina Bruno-Instituto Fleming |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-feb-2017 |
Alexander Fleming |
- |
- |
- |
German-Argentinian |
- |
- |
- |
1 |
Luisina Bruno-Instituto Fleming |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
20-nov-2016 |
Alexander Fleming |
- |
- |
- |
Italian-French Basque |
- |
- |
- |
1 |
Luisina Bruno-Instituto Fleming |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
23-jan-2017 |
Domeq&, Lafage |
- |
- |
Breast cancer |
Spanish-Italian |
- |
- |
Breast cancer |
1 |
Lina Nuñez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
6-mar-2017 |
Domeq&, Lafage |
- |
- |
Prostate cancer |
Argentinian-Irish |
- |
- |
Breast cancer, Prostate cancer |
1 |
Lina Nuñez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
01-mar-2017 |
Domeq&, Lafage |
- |
- |
N/A |
French |
- |
- |
Breast cancer, Ovarian cancer |
1 |
Lina Nuñez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
5-dec-2016 |
Alexander Fleming |
- |
- |
- |
Spanish-Italian |
- |
- |
- |
1 |
Luisina Bruno-Instituto Fleming |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
20-feb-2017 |
Alexander Fleming |
- |
- |
- |
Jew (Ashkenazi) |
- |
- |
- |
1 |
Luisina Bruno-Instituto Fleming |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Parent #1 |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-feb-2017 |
Alexander Fleming |
- |
- |
- |
Jew (Ashkenazi) |
- |
- |
- |
1 |
Luisina Bruno-Instituto Fleming |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
no |
- |
Both (homozygous) |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
20-nov-2016 |
Alexander Fleming |
- |
- |
- |
Spanish |
- |
- |
- |
1 |
Luisina Bruno-Instituto Fleming |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
16-jan-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Italian-Spanish |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
16-jan-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
Ovarian cancer |
Italian-Spanish |
- |
- |
Breast cancer, Ovarian cancer |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
16-jan-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Italian-Spanish |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ |
5-apr-2017 |
CeNaGeM |
Ashkenazi panel |
- |
- |
Ashkenazi-French-German-Rumanian-Polish |
- |
- |
- |
1 |
Rita Valdez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ |
5-apr-2017 |
CeNaGeM |
Ashkenazi panel |
- |
- |
Ashkenazi-French-German-Rumanian-Polish |
- |
- |
- |
1 |
Rita Valdez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
2-jan-2017 |
Domeq&, Lafage |
- |
- |
- |
Italian-Spanish |
- |
- |
- |
1 |
Rita Valdez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
3-apr-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-mar-2017 |
Domeq&, Lafage |
- |
- |
N/A |
Spanish |
- |
- |
Breast cancer, Meduloblastoma |
1 |
Lina Nuñez-Private Practice |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-mar-2017 |
CEMIC |
- |
- |
- |
European |
- |
- |
- |
1 |
Alejandra Mampel-Hospital Universitario de Mendoza |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
15-mar-2017 |
CEMIC |
- |
- |
- |
European |
- |
- |
- |
1 |
Alejandra Mampel-Hospital Universitario de Mendoza |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
18-apr-2017 |
CEMIC |
- |
- |
- |
European |
- |
- |
- |
1 |
Alejandra Mampel-Hospital Universitario de Mendoza |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-mar-2017 |
CEMIC |
- |
- |
- |
European |
- |
- |
- |
1 |
Alejandra Mampel-Hospital Universitario de Mendoza |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
02-dec-2016 |
CEMIC |
- |
- |
Breast cancer |
Amerindian-German-Argentinian |
- |
- |
Breast cancer |
1 |
Lina Nuñez-Private Practice |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
15-feb-2017 |
Alexander Fleming |
- |
- |
- |
Argentinian-Spanish-French |
- |
- |
- |
1 |
Pablo Kalfayan-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-feb-2017 |
CEMIC |
- |
- |
- |
Argentinian |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
9-jun-2017 |
Domeq&, Lafage |
- |
- |
Breast cancer |
Italian-Amerindian |
- |
- |
Breast cancer |
1 |
Lina Nuñez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
3-apr-2017 |
CEMIC |
- |
- |
- |
Spanish-Italian-Russian-Polish |
- |
- |
- |
1 |
Pablo Kalfayan-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Unknown |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
12-may-2017 |
BIOMAKERS Molecular Pathology &, Research |
- |
Specific pathology |
-- |
Spanish-Argentinian |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
15-mar-2017 |
CEMIC |
- |
- |
-- |
Spanish-Portuguese |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
24-apr-2017 |
CEMIC |
- |
- |
- |
Portuguese |
- |
- |
- |
1 |
Celeste Michia-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-mar-2017 |
CEMIC |
- |
- |
-- |
Ucranian-Spanish |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
15-mar-2017 |
CEMIC |
- |
- |
-- |
Italian-Spanish-Austrian-Slovene |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
12-jun-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
20-mar-2017 |
CEMIC |
- |
- |
- |
Italian-Spanish |
- |
- |
- |
1 |
Laura Vargas Roig-IMBECU |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
19-may-2017 |
CEMIC |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Alejandra Mampel-COIR |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
2-feb-2017 |
CEMIC |
- |
- |
- |
Spanish-German |
- |
- |
- |
1 |
Alejandra Mampel-Hospital Universitario de Mendoza |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
22-feb-2017 |
CEMIC |
- |
- |
- |
German |
- |
- |
- |
1 |
Alejandra Mampel-COIR |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
12-jun-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Spanish-Italian |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-apr-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-apr-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Arab-Spanish |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
12-jun-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Spanish |
- |
- |
- |
1 |
Claudia Martin-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
14-jun-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Unknown |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
14-jun-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
French-Argentinian |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
20-mar-2017 |
CEMIC |
- |
- |
-- |
Spanish |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-apr-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
Bilateral Breast cancer |
Italian |
- |
- |
Breast cancer |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
15-mar-2017 |
CEMIC |
- |
- |
-- |
Spanish |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-mar-2017 |
CEMIC |
- |
- |
- |
Spanish-French-Basque |
- |
- |
- |
1 |
Pablo Kalfayan-Hospital Italiano |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA2 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
MLPA, SEQ-NG |
10-jul-2017 |
Domeq&, Lafage |
- |
- |
Breast cancer, Ovarian cancer |
Spanish-Italian |
- |
- |
Breast cancer |
1 |
Lina Nuñez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
15-aug-2017 |
Domeq&, Lafage |
- |
- |
N/A |
Polish-Ashkenazi-Hungarian-Czech |
- |
- |
Breast cancer, Melanoma |
1 |
Lina Nuñez-Private Practice |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
22-may-2017 |
CEMIC |
- |
- |
- |
Spanish-Basque |
- |
- |
- |
1 |
Lucas Sanchez-Sanatorio Méndez |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
16-apr-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Norma Rossi-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
22-jun-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Italian-Argentinian |
- |
- |
- |
1 |
Claudia Martin-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
27-jul-2017 |
LACE |
- |
- |
- |
Spanish-Italian |
- |
- |
- |
1 |
Jose Llugdar-Clínica Reina Fabiola |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
11-jul-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Russian |
- |
- |
- |
1 |
Claudia Martin-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
14-jun-2017 |
CEMIC |
- |
- |
-- |
Ashkenazi |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
15-may-2017 |
CEMIC |
- |
- |
- |
Spanish-Italian |
- |
- |
- |
1 |
Pablo Kalfayan-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
26-may-2017 |
Alexander Fleming |
- |
- |
-- |
French-Lebanese |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
6-jun-2017 |
CEMIC |
- |
- |
-- |
Spanish-Italian |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
7-jun-2017 |
CEMIC |
- |
- |
- |
Spanish-Italian |
- |
- |
- |
1 |
Pablo Kalfayan-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
15-sep-2017 |
CeNaGeM |
Ashkenazi panel |
- |
Breast cancer |
Russian-Ashkenazi |
- |
- |
Breast cancer, Lung cancer, Pancreatic cancer |
1 |
Lina Nuñez-Private Practice |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
3-oct-2017 |
Domeq&, Lafage |
- |
- |
N/A |
Amerindian-Argentinian |
- |
- |
Ovarian cancer |
1 |
Lina Nuñez-Private Practice |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
20-oct-2017 |
CEMIC |
- |
- |
- |
Spanish |
- |
- |
- |
1 |
Jose Llugdar-Clínica Reina Fabiola |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
4-ago-2017 |
CEMIC |
- |
- |
Breast cancer |
Spanish-Italian-Argentinian |
- |
- |
Breast cancer |
1 |
Lina Nuñez-Private Practice |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
21-jun-2017 |
CEMIC |
- |
- |
- |
Spanish-Argentinian |
- |
- |
- |
1 |
Pablo Kalfayan-Hospital Italiano |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
4-aug-2017 |
Alexander Fleming |
- |
- |
- |
French-Spanish |
- |
- |
- |
1 |
Pablo Kalfayan-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
19-jun-2017 |
CEMIC |
- |
- |
-- |
Spanish |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
26-jun-2017 |
CEMIC |
- |
- |
-- |
Italian-Spanish |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
19-jun-2017 |
CEMIC |
- |
- |
-- |
Irish-Argentinian |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
27-jun-2017 |
CEMIC |
- |
- |
-- |
Italian-Spanish |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
10-jul-2017 |
CEMIC |
- |
- |
-- |
Spanish-Italian |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
28-jul-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Claudia Martin-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
14-jun-2017 |
CEMIC |
- |
- |
- |
Argentinian |
- |
- |
- |
1 |
Lucas Sanchez-Sanatorio Méndez |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
31-jul-2017 |
CEMIC |
- |
- |
- |
Spanish |
- |
- |
- |
1 |
Lucas Sanchez-Sanatorio Méndez |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
2-aug-2017 |
CEMIC |
- |
- |
- |
Spanish |
- |
- |
- |
1 |
Alejandra Mampel-Hospital Universitario de Mendoza |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
11-oct-2017 |
Domeq&, Lafage |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Rita Valdez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
3-oct-2017 |
Domeq&, Lafage |
- |
- |
- |
Italian-Argentinian |
- |
- |
- |
1 |
Rita Valdez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
7-sep-2017 |
Domeq&, Lafage |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Rita Valdez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA2 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
17-jul-2017 |
Domeq&, Lafage |
- |
- |
- |
Ashkenazi |
- |
- |
- |
1 |
Rita Valdez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
9-oct-2017 |
CEMIC |
- |
- |
- |
Spanish |
- |
- |
- |
1 |
Rita Valdez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
MLPA, SEQ-NG |
21-feb-2017 |
CEMIC |
- |
- |
Ovarian cancer |
Argentinian-Bolivian |
- |
- |
Breast cancer, Ovarian cancer |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA1 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
MLPA, SEQ-NG |
26-feb-2017 |
CEMIC |
- |
- |
Ovarian cancer |
Italian |
- |
- |
Breast cancer, Ovarian cancer |
1 |
Jesica Ramirez-Hospital Central de Mendoza |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA2 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
16-nov-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
Breast cancer |
Italian |
- |
- |
Breast cancer |
1 |
Claudia Martin-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
24-may-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
Specific pathology |
-- |
Italian-Argentinian |
- |
- |
- |
1 |
Cecilia Montes-IMGO |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
7-apr-2017 |
CEMIC |
- |
- |
- |
Argentinian |
- |
- |
- |
1 |
Laura Vargas Roig-IMBECU |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
25-oct-2017 |
CEMIC |
- |
- |
- |
Argentinian |
- |
- |
- |
1 |
Laura Vargas Roig-IMBECU |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
8-jan-2018 |
LACE |
- |
- |
- |
Italian |
- |
- |
- |
1 |
Jose Llugdar-Instituto Oulton |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
BRCA2 |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
20-dic-2017 |
Hospital Privado Centro Médico de Córdoba |
- |
- |
Breast cancer |
Italian |
- |
- |
Breast cancer, Lung cancer |
1 |
Claudia Martin-Hospital de Córdoba |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
8-aug-2017 |
CEMIC |
- |
- |
- |
Italian-Spanish |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
9-aug-2017 |
CEMIC |
- |
- |
- |
Hungarian-Spanish |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
10-aug-2017 |
CEMIC |
- |
- |
- |
Spanish-Argentinian |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Homo |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
18-jul-2017 |
CEMIC |
- |
- |
- |
Italian-Brazilian-Amerindian-Chilean |
- |
- |
- |
1 |
Celeste Michia-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
4-sep-2017 |
CEMIC |
- |
- |
- |
Spanish |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
4-sep-2017 |
CEMIC |
- |
- |
- |
Uruguayan-Italian |
- |
- |
- |
1 |
Florencia Petracchi-CEMIC |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
15-jan-2017 |
Domeq&, Lafage |
- |
- |
Breast cancer |
Italian-Paraguayan |
- |
- |
Breast cancer |
1 |
Lina Nuñez-Hospital Alemán |
-/- |
1i |
c.-19-115T>C |
r.(=) |
p.(=) |
Hetero |
no |
- |
Unknown |
g.43124230A>G |
- |
BRCA1_000001 |
- |
- |
DNA |
SEQ-NG |
8-mar-2018 |
Domeq&, Lafage |
- |
- |
Breast cancer |
Argentinian |
- |
- |
Breast cancer |
1 |
Lina Nuñez-Hospital Alemán |