Variant #0000000016 (NC_000013.11:g.32379431C>T, BRCA2(NM_000059.3):c.8869C>T)

Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.32379431C>T
Published as -
Reference E Thirthagiri et al. (2008), dbSNP,ClinVar
DB-ID BRCA2_000011 See all 4 reported entries
dbSNP ID rs276174913
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
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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 +/. 22 c.8869C>T - r.(?) p.(Gln2957*) - ClinVar