Variant #0000009528 (NC_000017.11:g.61780365C>T, BRIP1(NM_032043.2):c.1831G>A)

Individual ID 00002294
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.61780365C>T
Reference -
DB-ID BRIP1_000022
dbSNP ID rs777741543
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Hospital Alemán
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

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Review status     
BRIP1 NM_032043.2 ?/? 13 c.1831G>A p.(Val611Ile) Hetero no r.(1831g>a) -



Screenings


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Owner     
0000002587 DNA SEQ-NG Genos Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 18-12-20 Multigenetic panel - 1 Lina Nuñez-Hospital Alemán