Variant #0000000008 (NC_000013.11:g.32333251_32333254delTTAT, NM_000059.3:c.1773_1776delTTAT (BRCA2))

Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.32333251_32333254delTTAT
Published as -
Reference E Thirthagiri et al. (2008), dbSNP, ClinVar
DB-ID BRCA2_000003 See all 2 reported entries
dbSNP ID rs80359304
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MyHVP
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by MyHVP
Date created 2017-11-20 03:03:55 +08:00 (CST)
Date last edited 2021-09-09 12:58:33 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
BRCA2 NM_000059.3 +/. 10 c.1773_1776delTTAT - r.(?) p.(Ile591Metfs*22) - ClinVar