Variant #0000007175 (NC_000017.11:g.61685986A>G, BRIP1(NM_032043.2):c.2755T>C)

Individual ID 00001278
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.61685986A>G
Reference -
DB-ID BRIP1_000002 See all 28 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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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DNA change (cDNA)     

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RNA change     

Review status     
BRIP1 NM_032043.2 -/-? 19 c.2755T>C p.(Ser919Pro) Hetero no r.(?) -



Screenings


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Variants found     

Owner     
0000001517 DNA SEQ-NG IACA CNV analysis of BRCA1, BRCA2, PALB2, RAD51D, RAD51C and TP53 26-sep-2018 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 24 Silvina Sisterna-Hospital de Comunidad