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rs80359447

From SNPedia

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


Make rs80359447(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338778
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359447
ebirs80359447
HLIrs80359447
Exacrs80359447
Varsomers80359447
Maprs80359447
PheGenIrs80359447
hapmaprs80359447
1000 genomesrs80359447
hgdprs80359447
ensemblrs80359447
gopubmedrs80359447
geneviewrs80359447
scholarrs80359447
googlers80359447
pharmgkbrs80359447
gwascentralrs80359447
openSNPrs80359447
23andMers80359447
23andMe allrs80359447
SNP Nexus

SNPshotrs80359447
SNPdbers80359447
MSV3drs80359447
GWAS Ctlgrs80359447
Max Magnitude6
rs80359447, also known as 4651delA, c.4423_4423delA and p.Met1475Trpfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359447(;)
Alt rs80359447(;)
Reference rs80359447(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.32912915delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044412.2, RCV000113302.1,