Variant #0000002503 (NC_000013.11:g.32337185A>T, NM_000059.3:c.2830A>T (BRCA2))

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.32337185A>T
Published as -
Reference Ava Kwong et al.(2016)
DB-ID BRCA2_000102 See all 3 reported entries
dbSNP ID rs80358533
Frequency -
Variant remarks Mutation type: Nonsense
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
Date created 2021-03-25 09:07:00 +08:00 (CST)
Date last edited 2021-08-01 12:33:01 +08:00 (CST)
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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.2830A>T - r.(?) p.(Lys944*) - Pathogenic



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000596 DNA SEQ BRCA2 21 Nur Aisyah Athirah