Variant #0000000002 (NC_000017.11:g.43092418T>C, BRCA1(NM_007294.3):c.3113A>G)

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.43092418T>C
Published as -
Reference Toh GT et al. (2008), dbSNP, ClinVar
DB-ID BRCA1_000002 See all 8 reported entries
dbSNP ID rs16941
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     
BRCA1 NM_007294.3 -/. 11 c.3113A>G - r.(?) p.(Glu1038Gly) - ClinVar