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rs80359638

From SNPedia

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


Make rs80359638(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32354961
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359638
ebirs80359638
HLIrs80359638
Exacrs80359638
Varsomers80359638
Maprs80359638
PheGenIrs80359638
hapmaprs80359638
1000 genomesrs80359638
hgdprs80359638
ensemblrs80359638
gopubmedrs80359638
geneviewrs80359638
scholarrs80359638
googlers80359638
pharmgkbrs80359638
gwascentralrs80359638
openSNPrs80359638
23andMers80359638
23andMe allrs80359638
SNP Nexus

SNPshotrs80359638
SNPdbers80359638
MSV3drs80359638
GWAS Ctlgrs80359638
Max Magnitude6
rs80359638, also known as 7336delAA, c.7108_7109delAA and p.Lys2370Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359638(;)
Alt rs80359638(;)
Reference rs80359638(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.32929098_32929099delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045144.2, RCV000113709.1,