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rs80359438

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359438(-;-)
Make rs80359438(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338631
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359438
ebirs80359438
HLIrs80359438
Exacrs80359438
Varsomers80359438
Maprs80359438
PheGenIrs80359438
hapmaprs80359438
1000 genomesrs80359438
hgdprs80359438
ensemblrs80359438
gopubmedrs80359438
geneviewrs80359438
scholarrs80359438
googlers80359438
pharmgkbrs80359438
gwascentralrs80359438
openSNPrs80359438
23andMers80359438
23andMe allrs80359438
SNP Nexus

SNPshotrs80359438
SNPdbers80359438
MSV3drs80359438
GWAS Ctlgrs80359438
Max Magnitude6
rs80359438, also known as 4504insA, c.4276_4277insA and p.Thr1426?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359438(A;A)
Alt rs80359438(A;A)
Reference rs80359438(;)
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.32912768dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031472.4, RCV000044386.2, RCV000130745.2,