Variant #0000000563 (NC_000013.11:g.32379893del, BRCA2(NM_000059.3):c.9097del)

Individual ID 00000102
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32379893del
Published as -
Reference Peter Choon Eng Kang et al. (2014), dbSNP, ClinVar
DB-ID BRCA2_000069 See all 3 reported entries
dbSNP ID rs397507419
Frequency 1/19
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 +/. - c.9097del - r.(?) p.(Thr3033Leufs*29) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000117 DNA ? BRCA2 2 Nuur Athirah Binti Mohd Daud