Individual #00000091

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Norma Rossi-Hospital de Córdoba
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000100 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba - 3-mar-2017 - BRCA1, BRCA2 27 Norma Rossi-Hospital de Córdoba



Variants

27 entries on 1 page. Showing entries 1 - 27.
Legend   How to query  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
13 Unknown -/- g.32315655A>G - BRCA2_000048 - - Norma Rossi-Hospital de Córdoba BRCA2 5'UTR NM_000059.3:c.-52A>G p.(=) Homo no r.(=) -
13 Unknown -/- g.32329548C>T - BRCA2_000006 - - Norma Rossi-Hospital de Córdoba BRCA2 8i NM_000059.3:c.681+56C>T p.(=) Hetero no r.(=) -
13 Unknown -/- g.32331094delT - BRCA2_000049 - - Norma Rossi-Hospital de Córdoba BRCA2 9i NM_000059.3:c.793+64delT p.(=) Hetero no r.(=) -
13 Unknown -/- g.32331128G>A - BRCA2_000042 - - Norma Rossi-Hospital de Córdoba BRCA2 9i NM_000059.3:c.793+98G>A p.(=) Homo no r.(=) -
13 Unknown -/- g.32338162T>C - BRCA2_000001 - - Norma Rossi-Hospital de Córdoba BRCA2 11 NM_000059.3:c.3807T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Norma Rossi-Hospital de Córdoba BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo no r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Norma Rossi-Hospital de Córdoba BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo no r.(=) -
13 Unknown -/- g.32355250T>C - BRCA2_000012 - - Norma Rossi-Hospital de Córdoba BRCA2 14 NM_000059.3:c.7397T>C p.(Val2466Ala) Homo no r.(?) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Norma Rossi-Hospital de Córdoba BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32379251T>C - BRCA2_000005 - - Norma Rossi-Hospital de Córdoba BRCA2 21i NM_000059.3:c.8755-66T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43063808C>T - BRCA1_000035 - - Norma Rossi-Hospital de Córdoba BRCA1 18i NM_007294.3:c.5152+66G>A p.(=) Hetero no r.(=) -
17 Unknown -/- g.43067543C>T - BRCA1_000034 - - Norma Rossi-Hospital de Córdoba BRCA1 17i NM_007294.3:c.5074+65G>A p.(=) Hetero no r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Norma Rossi-Hospital de Córdoba BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Homo no r.(?) -
17 Unknown -/- g.43074584G>C - BRCA1_000025 - - Norma Rossi-Hospital de Córdoba BRCA1 14i NM_007294.3:c.4485-63C>G p.(=) Homo no r.(=) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Norma Rossi-Hospital de Córdoba BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Norma Rossi-Hospital de Córdoba BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero no r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Norma Rossi-Hospital de Córdoba BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero no r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Norma Rossi-Hospital de Córdoba BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Norma Rossi-Hospital de Córdoba BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Norma Rossi-Hospital de Córdoba BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero no r.(=) -
17 Unknown -/- g.43094464T>C - BRCA1_000021 - - Norma Rossi-Hospital de Córdoba BRCA1 11 NM_007294.3:c.1067A>G p.(Gln356Arg) Hetero no r.(?) -
17 Unknown -/- g.43099914G>A - BRCA1_000012 - - Norma Rossi-Hospital de Córdoba BRCA1 7i NM_007294.3:c.442-34C>T p.(=) Hetero no r.(=) -
17 Unknown -/-? g.43104081G>A - BRCA1_000033 - - Norma Rossi-Hospital de Córdoba BRCA1 7i NM_007294.3:c.441+41C>T p.(=) Hetero no r.(=) RECLASSIFIED JUNE 2019
17 Unknown -/- g.43104084A>G - BRCA1_000038 - - Norma Rossi-Hospital de Córdoba BRCA1 7i NM_007294.3:c.441+38T>C p.(=) Hetero no r.(=) -
17 Unknown -/-? g.43104086G>A - BRCA1_000032 - - Norma Rossi-Hospital de Córdoba BRCA1 7i NM_007294.3:c.441+36C>T p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022
17 Unknown -/- g.43125170G>C - BRCA1_000031 - - Norma Rossi-Hospital de Córdoba BRCA1 1i NM_007294.3:c.-20+101C>G p.(=) Hetero no r.(=) -
17 Unknown -/- g.43126099T>C - BRCA1_000030 - - Norma Rossi-Hospital de Córdoba BRCA1 5'UTR NM_007294.3:c.-848A>G p.(=) Hetero no r.(=) -
Legend   How to query