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rs80359325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359325(-;-)
Make rs80359325(T;T)
ReferenceGRCh38 38.1/142
Chromosome13
Position32336567
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359325
ebirs80359325
HLIrs80359325
Exacrs80359325
Varsomers80359325
Maprs80359325
PheGenIrs80359325
hapmaprs80359325
1000 genomesrs80359325
hgdprs80359325
ensemblrs80359325
gopubmedrs80359325
geneviewrs80359325
scholarrs80359325
googlers80359325
pharmgkbrs80359325
gwascentralrs80359325
openSNPrs80359325
23andMers80359325
23andMe allrs80359325
SNP Nexus

SNPshotrs80359325
SNPdbers80359325
MSV3drs80359325
GWAS Ctlgrs80359325
Max Magnitude6
rs80359325, also known as 2440insT, c.2212_2213insT and p.Cys738?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359325(T;T)
Alt rs80359325(T;T)
Reference rs80359325(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32910704dupT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113022.1, RCV000166781.1,