Variant #0000001944 (NC_000017.11:g.61683635A>G, BRIP1(NM_032043.2):c.3411T>C)

Individual ID 00000184
Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.61683635A>G
Reference -
DB-ID BRIP1_000003 See all 26 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner 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
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Variant on transcripts


Gene     

AscendingTranscript     

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Exon     

DNA change (cDNA)     

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RNA change     

Review status     
BRIP1 NM_032043.2 -/-? 20 c.3411T>C p.(=) Hetero BRCA1 r.(=) -



Screenings


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Owner     
0000000209 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (12 genes) 23-may-2017 - ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 21 Alejandra Mampel-Hospital Universitario de Mendoza