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rs80359329

From SNPedia

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


Make rs80359329(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336790
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359329
ebirs80359329
HLIrs80359329
Exacrs80359329
Varsomers80359329
Maprs80359329
PheGenIrs80359329
hapmaprs80359329
1000 genomesrs80359329
hgdprs80359329
ensemblrs80359329
gopubmedrs80359329
geneviewrs80359329
scholarrs80359329
googlers80359329
pharmgkbrs80359329
gwascentralrs80359329
openSNPrs80359329
23andMers80359329
23andMe allrs80359329
SNP Nexus

SNPshotrs80359329
SNPdbers80359329
MSV3drs80359329
GWAS Ctlgrs80359329
Max Magnitude6
rs80359329, also known as 2663delA, c.2435_2435delA and p.Asn812Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359329(;)
Alt rs80359329(;)
Reference rs80359329(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.32910927delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043992.2, RCV000113042.1, RCV000131948.2,