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rs80359275

From SNPedia

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


Make rs80359275(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319137
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359275
ebirs80359275
HLIrs80359275
Exacrs80359275
Varsomers80359275
Maprs80359275
PheGenIrs80359275
hapmaprs80359275
1000 genomesrs80359275
hgdprs80359275
ensemblrs80359275
gopubmedrs80359275
geneviewrs80359275
scholarrs80359275
googlers80359275
pharmgkbrs80359275
gwascentralrs80359275
openSNPrs80359275
23andMers80359275
23andMe allrs80359275
SNP Nexus

SNPshotrs80359275
SNPdbers80359275
MSV3drs80359275
GWAS Ctlgrs80359275
Max Magnitude6
rs80359275, also known as 356delA, c.128_128delA and p.Asn43Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359275(;)
Alt rs80359275(;)
Reference rs80359275(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.32893274delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043774.2, RCV000113163.1,