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rs80359513

From SNPedia

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


Make rs80359513(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339809
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359513
ebirs80359513
HLIrs80359513
Exacrs80359513
Varsomers80359513
Maprs80359513
PheGenIrs80359513
hapmaprs80359513
1000 genomesrs80359513
hgdprs80359513
ensemblrs80359513
gopubmedrs80359513
geneviewrs80359513
scholarrs80359513
googlers80359513
pharmgkbrs80359513
gwascentralrs80359513
openSNPrs80359513
23andMers80359513
23andMe allrs80359513
SNP Nexus

SNPshotrs80359513
SNPdbers80359513
MSV3drs80359513
GWAS Ctlgrs80359513
Max Magnitude6
rs80359513, also known as 5682delA, c.5454_5454delA and p.Ser1818=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359513(;)
Alt rs80359513(;)
Reference rs80359513(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913946delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044662.2, RCV000113431.1, RCV000132083.2,