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rs80359394

From SNPedia

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


Make rs80359394(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337993
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359394
ebirs80359394
HLIrs80359394
Exacrs80359394
Varsomers80359394
Maprs80359394
PheGenIrs80359394
hapmaprs80359394
1000 genomesrs80359394
hgdprs80359394
ensemblrs80359394
gopubmedrs80359394
geneviewrs80359394
scholarrs80359394
googlers80359394
pharmgkbrs80359394
gwascentralrs80359394
openSNPrs80359394
23andMers80359394
23andMe allrs80359394
SNP Nexus

SNPshotrs80359394
SNPdbers80359394
MSV3drs80359394
GWAS Ctlgrs80359394
Max Magnitude6
rs80359394, also known as 3866delA, c.3638_3638delA and p.Glu1213=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359394(;)
Alt rs80359394(;)
Reference rs80359394(A;A)
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.32912130delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044233.2, RCV000113200.1,