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rs80359433

From SNPedia

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


Make rs80359433(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338524
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359433
ebirs80359433
HLIrs80359433
Exacrs80359433
Varsomers80359433
Maprs80359433
PheGenIrs80359433
hapmaprs80359433
1000 genomesrs80359433
hgdprs80359433
ensemblrs80359433
gopubmedrs80359433
geneviewrs80359433
scholarrs80359433
googlers80359433
pharmgkbrs80359433
gwascentralrs80359433
openSNPrs80359433
23andMers80359433
23andMe allrs80359433
SNP Nexus

SNPshotrs80359433
SNPdbers80359433
MSV3drs80359433
GWAS Ctlgrs80359433
Max Magnitude6
rs80359433, also known as 4397delT, c.4169_4169delT and p.Leu1390Trpfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359433(;)
Alt rs80359433(;)
Reference rs80359433(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.32912661delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044364.2, RCV000113282.2,