Variant #0000000561 (NC_000013.11:g.32319271_32319272del, NM_000059.3:c.262_263del (BRCA2))

Individual ID 00000101
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_32319272del
Published as -
Reference Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar
DB-ID BRCA2_000067 See all 2 reported entries
dbSNP ID rs276174825
Frequency 5/8
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-10-28 11:00:58 +08:00 (CST)
Date last edited 2021-08-22 16:39:51 +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     
BRCA2 NM_000059.3 +/. - c.262_263del - r.(?) p.(Leu88Alafs*12) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000116 DNA ? BRCA2 1 Nuur Athirah Binti Mohd Daud