Variant #0000000129 (NC_000017.11:g.43092089delC, NC_000017.11(NM_007294.3):c.81-14C>T (BRCA1))

Chromosome 17
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.43092089delC
Published as -
Reference E Thirthagiri et al. (2008), dbSNP, ClinVar
DB-ID BRCA1_000017
dbSNP ID rs80358006
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 2017-11-27 02:30:01 +08:00 (CST)
Date last edited 2021-09-12 12:40:15 +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     
BRCA1 NM_007294.3 -/? - c.81-14C>T - r.(?) p.(Glu1148Argfs*7) - ClinVar