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rs80359472

From SNPedia

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


Make rs80359472(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339290
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359472
ebirs80359472
HLIrs80359472
Exacrs80359472
Varsomers80359472
Maprs80359472
PheGenIrs80359472
hapmaprs80359472
1000 genomesrs80359472
hgdprs80359472
ensemblrs80359472
gopubmedrs80359472
geneviewrs80359472
scholarrs80359472
googlers80359472
pharmgkbrs80359472
gwascentralrs80359472
openSNPrs80359472
23andMers80359472
23andMe allrs80359472
SNP Nexus

SNPshotrs80359472
SNPdbers80359472
MSV3drs80359472
GWAS Ctlgrs80359472
Max Magnitude6
rs80359472, also known as 5163delA, c.4935_4935delA and p.Lys1645=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359472(;)
Alt rs80359472(;)
Reference rs80359472(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.32913427delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044526.2, RCV000113360.1,