Variant #0000002497 (NC_000013.11:g.32333251_32333254delTTAT, BRCA2(NM_000059.3):c.1773_1776delTTAT)

Individual ID 00000544
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32333251_32333254delTTAT
Published as -
Reference Ava Kwong et al.(2016)
DB-ID BRCA2_000003 See all 2 reported entries
dbSNP ID rs80359304
Frequency -
Variant remarks Mutation type: Deletion - frameshift
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
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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 +/. 10 c.1773_1776delTTAT - r.(?) p.(Ile591Metfs*22) - Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000596 DNA SEQ BRCA2 21 Nur Aisyah Athirah