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rs80359271

From SNPedia

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


Make rs80359271(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332716
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359271
ebirs80359271
HLIrs80359271
Exacrs80359271
Varsomers80359271
Maprs80359271
PheGenIrs80359271
hapmaprs80359271
1000 genomesrs80359271
hgdprs80359271
ensemblrs80359271
gopubmedrs80359271
geneviewrs80359271
scholarrs80359271
googlers80359271
pharmgkbrs80359271
gwascentralrs80359271
openSNPrs80359271
23andMers80359271
23andMe allrs80359271
SNP Nexus

SNPshotrs80359271
SNPdbers80359271
MSV3drs80359271
GWAS Ctlgrs80359271
Max Magnitude6
rs80359271, also known as 1466delT, c.1238_1238delT and p.Leu413Hisfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359271(;)
Alt rs80359271(;)
Reference rs80359271(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32906853delT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031312.5, RCV000043764.3, RCV000131980.2,