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rs80359428

From SNPedia

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


Make rs80359428(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338485
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359428
ebirs80359428
HLIrs80359428
Exacrs80359428
Varsomers80359428
Maprs80359428
PheGenIrs80359428
hapmaprs80359428
1000 genomesrs80359428
hgdprs80359428
ensemblrs80359428
gopubmedrs80359428
geneviewrs80359428
scholarrs80359428
googlers80359428
pharmgkbrs80359428
gwascentralrs80359428
openSNPrs80359428
23andMers80359428
23andMe allrs80359428
SNP Nexus

SNPshotrs80359428
SNPdbers80359428
MSV3drs80359428
GWAS Ctlgrs80359428
Max Magnitude6
rs80359428, also known as 4358delA, c.4130_4130delA and p.Asn1377Thrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359428(;)
Alt rs80359428(;)
Reference rs80359428(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.32912622delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044355.2, RCV000113275.1,