Variant #0000000617 (NC_000013.11:g.32339519_32339520delAG, NM_000059.3:c.5164_5165delAG (BRCA2))

Individual ID 00000109
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32339519_32339520delAG
Published as -
Reference P S Ng et al. (2016), dbSNP, ClinVar
DB-ID BRCA2_000085
dbSNP ID rs80359490
Frequency 1/8
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 2020-11-01 15:52:20 +08:00 (CST)
Date last edited 2021-08-22 11:17:05 +08:00 (CST)
Options




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.5164_5165delAG - r.(?) p.(Ser1722Tyrfs*4) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000124 DNA SEQ BRCA2 8 Nuur Athirah Binti Mohd Daud