Variant #0000002644 (NC_000013.11:g.32337800A>G, NM_000059.3:c.3445A>G (BRCA2))

Individual ID 00000591
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32337800A>G
Published as -
Reference Mohamed Saleem et al.(2018)
DB-ID BRCA2_000022 See all 3 reported entries
dbSNP ID rs80358589
Frequency -
Variant remarks -
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 2021-04-21 10:35:40 +08:00 (CST)
Date last edited 2021-08-01 12:33:34 +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.3445A>G - r.(?) p.(Met1149Val) - Uncertain significance



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000657 DNA PCR BRCA2 10 Nur Aisyah Athirah