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rs80359713

From SNPedia

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


Make rs80359713(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370973
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359713
ebirs80359713
HLIrs80359713
Exacrs80359713
Varsomers80359713
Maprs80359713
PheGenIrs80359713
hapmaprs80359713
1000 genomesrs80359713
hgdprs80359713
ensemblrs80359713
gopubmedrs80359713
geneviewrs80359713
scholarrs80359713
googlers80359713
pharmgkbrs80359713
gwascentralrs80359713
openSNPrs80359713
23andMers80359713
23andMe allrs80359713
SNP Nexus

SNPshotrs80359713
SNPdbers80359713
MSV3drs80359713
GWAS Ctlgrs80359713
Max Magnitude6
rs80359713, also known as 8733delA, c.8505_8505delA and p.Ser2835=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359713(;)
Alt rs80359713(;)
Reference rs80359713(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.32945110delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045542.2, RCV000113952.1, RCV000164732.1,