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rs80359630

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80359630(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32330933
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359630
ebirs80359630
HLIrs80359630
Exacrs80359630
Varsomers80359630
Maprs80359630
PheGenIrs80359630
hapmaprs80359630
1000 genomesrs80359630
hgdprs80359630
ensemblrs80359630
gopubmedrs80359630
geneviewrs80359630
scholarrs80359630
googlers80359630
pharmgkbrs80359630
gwascentralrs80359630
openSNPrs80359630
23andMers80359630
23andMe allrs80359630
SNP Nexus

SNPshotrs80359630
SNPdbers80359630
MSV3drs80359630
GWAS Ctlgrs80359630
Max Magnitude6
rs80359630, also known as 924delT, c.696_696delT and p.Tyr232=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359630(;)
Alt rs80359630(;)
Reference rs80359630(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32905074delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031661.5, RCV000045101.2,