Variant #0000000646 (NC_000013.11:g.32340437_32340441del, NM_000059.3:c.6082_6086del (BRCA2))

Individual ID 00000117
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32340437_32340441del
Published as -
Reference Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar
DB-ID BRCA2_000095 See all 2 reported entries
dbSNP ID rs80359558
Frequency 1/3
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 2020-11-02 14:47:05 +08:00 (CST)
Date last edited 2021-08-22 12:07:28 +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 +/. 22 c.6082_6086del - r.(?) p.(Glu2028Lysfs*19) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000132 DNA PCRm;SEQ BRCA2 3 Nuur Athirah Binti Mohd Daud