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rs80359361

From SNPedia

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


Make rs80359361(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32337254
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359361
ebirs80359361
HLIrs80359361
Exacrs80359361
Varsomers80359361
Maprs80359361
PheGenIrs80359361
hapmaprs80359361
1000 genomesrs80359361
hgdprs80359361
ensemblrs80359361
gopubmedrs80359361
geneviewrs80359361
scholarrs80359361
googlers80359361
pharmgkbrs80359361
gwascentralrs80359361
openSNPrs80359361
23andMers80359361
23andMe allrs80359361
SNP Nexus

SNPshotrs80359361
SNPdbers80359361
MSV3drs80359361
GWAS Ctlgrs80359361
Max Magnitude6
rs80359361, also known as 3127delCT, c.2899_2900delCT and p.Leu967Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359361(;)
Alt rs80359361(;)
Reference rs80359361(CT;CT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32911391_32911392delCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113112.1, RCV000131098.2,