Variant #0000000051 (NC_000013.11:g.32337215_32337217delGAG, BRCA2(NM_000059.3):c.2860_2862delGAG)

Individual ID 00000003
Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32337215_32337217delGAG
Published as -
Reference Toh GT et al.(2008) dbSNP, ClinVar
DB-ID BRCA2_000045
dbSNP ID rs80359360
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 ?/. 11 c.2860_2862delGAG - r.(?) p.(Glu954del) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000003 DNA ? BRCA2 1 MyHVP