Variant #0000001912 (NC_000013.11:g.32319271_32319272delCT, BRCA2(NM_000059.3):c.262_263delCT)

Individual ID 00000409
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32319271_32319272delCT
Published as -
Reference Wen WX, et al.(2018)
DB-ID BRCA2_000001 See all 4 reported entries
dbSNP ID rs276174825
Frequency 7/16
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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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 +/. - c.262_263delCT - r.(?) p.(Leu88Alafs*12) - pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000425 DNA ? BRCA2 1 Nur Aisyah Athirah