Variant #0000000142 (NC_000017.11:g.43091869T>G, BRCA1(NM_007294.3):c.3662A>C)

Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.43091869T>G
Published as -
Reference E Thirthagiri et al. (2008)dbSNP
DB-ID BRCA1_000030 See all 2 reported entries
dbSNP ID rs273900713
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.3662A>C - r.(?) p.(Glu1221Ala) - ClinVar