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rs80359483

From SNPedia

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


Make rs80359483(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316511
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359483
ebirs80359483
HLIrs80359483
Exacrs80359483
Varsomers80359483
Maprs80359483
PheGenIrs80359483
hapmaprs80359483
1000 genomesrs80359483
hgdprs80359483
ensemblrs80359483
gopubmedrs80359483
geneviewrs80359483
scholarrs80359483
googlers80359483
pharmgkbrs80359483
gwascentralrs80359483
openSNPrs80359483
23andMers80359483
23andMe allrs80359483
SNP Nexus

SNPshotrs80359483
SNPdbers80359483
MSV3drs80359483
GWAS Ctlgrs80359483
Max Magnitude6
rs80359483, also known as 279delAC, c.51_52delAC and p.Thr17_Arg18ThrLeufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359483(;)
Alt rs80359483(;)
Reference rs80359483(AC;AC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32890648_32890649delAC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044604.2, RCV000113063.2, RCV000131871.2, RCV000219019.1,