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rs80357511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 Normal
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357511(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092337
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357511
ebirs80357511
HLIrs80357511
Exacrs80357511
Varsomers80357511
Maprs80357511
PheGenIrs80357511
hapmaprs80357511
1000 genomesrs80357511
hgdprs80357511
ensemblrs80357511
gopubmedrs80357511
geneviewrs80357511
scholarrs80357511
googlers80357511
pharmgkbrs80357511
gwascentralrs80357511
openSNPrs80357511
23andMers80357511
23andMe allrs80357511
SNP Nexus

SNPshotrs80357511
SNPdbers80357511
MSV3drs80357511
GWAS Ctlgrs80357511
Max Magnitude6
rs80357511, also known as 3312insG, c.3193_3194insG and p.Asp1065?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357511(G;G)
Alt rs80357511(G;G)
Reference rs80357511(;)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 1
HGVS NC_000017.10:g.41244355dupC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031095.4, RCV000048099.2, RCV000216425.1, RCV000235794.1,