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rs80359642

From SNPedia

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


Make rs80359642(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355064
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359642
ebirs80359642
HLIrs80359642
Exacrs80359642
Varsomers80359642
Maprs80359642
PheGenIrs80359642
hapmaprs80359642
1000 genomesrs80359642
hgdprs80359642
ensemblrs80359642
gopubmedrs80359642
geneviewrs80359642
scholarrs80359642
googlers80359642
pharmgkbrs80359642
gwascentralrs80359642
openSNPrs80359642
23andMers80359642
23andMe allrs80359642
SNP Nexus

SNPshotrs80359642
SNPdbers80359642
MSV3drs80359642
GWAS Ctlgrs80359642
Max Magnitude6
rs80359642, also known as 7439delAA, c.7211_7212delAA and p.Lys2404Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359642(;)
Alt rs80359642(;)
Reference rs80359642(AA;AA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32929201_32929202delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045166.2, RCV000113720.1,