Variant #0000000569 (NC_000013.11:g.32337800A>G, BRCA2(NM_000059.3):c.3445A>G)

Individual ID 00000103
Chromosome 13
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32337800A>G
Published as -
Reference Kah Nyin Lai et al. (2017), dbSNP, ClinVar
DB-ID BRCA2_000022 See all 3 reported entries
dbSNP ID rs80358589
Frequency 7/1215
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.3445A>G - r.(?) p.(Met1149Val) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000118 DNA ? BRCA2 25 Nuur Athirah Binti Mohd Daud