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rs80359404

From SNPedia

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


Make rs80359404(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338192
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359404
ebirs80359404
HLIrs80359404
Exacrs80359404
Varsomers80359404
Maprs80359404
PheGenIrs80359404
hapmaprs80359404
1000 genomesrs80359404
hgdprs80359404
ensemblrs80359404
gopubmedrs80359404
geneviewrs80359404
scholarrs80359404
googlers80359404
pharmgkbrs80359404
gwascentralrs80359404
openSNPrs80359404
23andMers80359404
23andMe allrs80359404
SNP Nexus

SNPshotrs80359404
SNPdbers80359404
MSV3drs80359404
GWAS Ctlgrs80359404
Max Magnitude6
rs80359404, also known as 4065delT, c.3837_3837delT and p.Asn1279Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359404(;)
Alt rs80359404(;)
Reference rs80359404(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.32912329delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044277.2, RCV000113223.1,