Variant #0000000645 (NC_000013.11:g.32339428dup, BRCA2(NM_000059.3):c.5073dup)

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.32339428dup
Published as -
Reference Hanis Nazihah Hasmad et al. (2016), dbSNP, ClinVar
DB-ID BRCA2_000094 See all 2 reported entries
dbSNP ID rs80359479
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
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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.5073dup - r.(?) p.(Trp1692Metfs*3) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

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