Variant #0000000001 (NC_000017.11:g.43092919G>A, NM_007294.3:c.2612C>T (BRCA1))

Individual ID 00000001
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.43092919G>A
Published as -
Reference Toh GT et al. (2008)dbSNPClinVar
DB-ID BRCA1_000001 See all 7 reported entries
dbSNP ID rs799917
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 2017-11-16 06:04:08 +08:00 (CST)
Date last edited 2021-08-22 10:04:23 +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 -/. 11 c.2612C>T - r.(?) p.(Pro871Leu) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000001 DNA ? BRCA1 1 MyHVP