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rs80359399

From SNPedia

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


Make rs80359399(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316496
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359399
ebirs80359399
HLIrs80359399
Exacrs80359399
Varsomers80359399
Maprs80359399
PheGenIrs80359399
hapmaprs80359399
1000 genomesrs80359399
hgdprs80359399
ensemblrs80359399
gopubmedrs80359399
geneviewrs80359399
scholarrs80359399
googlers80359399
pharmgkbrs80359399
gwascentralrs80359399
openSNPrs80359399
23andMers80359399
23andMe allrs80359399
SNP Nexus

SNPshotrs80359399
SNPdbers80359399
MSV3drs80359399
GWAS Ctlgrs80359399
Max Magnitude6
rs80359399, also known as 264delT, c.36_36delT and p.Phe12Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359399(;)
Alt rs80359399(;)
Reference rs80359399(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32890633delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044247.2, RCV000113038.1,