Individual #00000371

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Alejandra Mampel-Hospital Universitario de Mendoza
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     
0000000424 DNA SEQ-NG IACA CNVs screening for BRCA1, BRCA2, PALB2 14-sep-2017 - BRCA1, BRCA2, CHEK2, PALB2 18 Alejandra Mampel-Hospital Universitario de Mendoza



Variants

18 entries on 1 page. Showing entries 1 - 18.
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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.32332592A>C - BRCA2_000007 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero no r.(?) -
13 Unknown -/- g.32338162T>C - BRCA2_000001 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA2 11 NM_000059.3:c.3807T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo no r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo no r.(=) -
13 Unknown -/- g.32355250T>C - BRCA2_000012 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA2 14 NM_000059.3:c.7397T>C p.(Val2466Ala) Homo no r.(?) -
16 Unknown -/-? g.23607914A>C - PALB2_000005 - - Alejandra Mampel-Hospital Universitario de Mendoza PALB2 12 NM_024675.3:c.3300T>G p.(=) Hetero no r.(=) -
16 Unknown -/-? g.23630140C>G - PALB2_000006 - - Alejandra Mampel-Hospital Universitario de Mendoza PALB2 5 NM_024675.3:c.2014G>C p.(Glu672Gln) Hetero no r.(?) -
16 Unknown -/-? g.23630387C>T - PALB2_000007 - - Alejandra Mampel-Hospital Universitario de Mendoza PALB2 5 NM_024675.3:c.1767G>A p.(=) Hetero no r.(=) -
16 Unknown -/-? g.23634870T>C - PALB2_000004 - - Alejandra Mampel-Hospital Universitario de Mendoza PALB2 4 NM_024675.3:c.1676A>G p.(Gln559Arg) Hetero no r.(?) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero no r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero no r.(?) -
17 Unknown -/- g.43092412C>T - BRCA1_000019 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.3119G>A p.(Ser1040Asn) Hetero no r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero no r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero no r.(=) -
22 Unknown -/-? g.28734024T>C - CHEK2_000007 - - Alejandra Mampel-Hospital Universitario de Mendoza CHEK2 2i NM_001005735.1:c.319+379A>G p.(=) Homo no r.(=) RECLASSIFIED JUNE 2019
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