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rs80357945

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;GT) 6 BRCA1 variant considered pathogenic for breast cancer
(GT;GT) 0 Normal


Make rs80357945(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092172
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357945
ebirs80357945
HLIrs80357945
Exacrs80357945
Varsomers80357945
Maprs80357945
PheGenIrs80357945
hapmaprs80357945
1000 genomesrs80357945
hgdprs80357945
ensemblrs80357945
gopubmedrs80357945
geneviewrs80357945
scholarrs80357945
googlers80357945
pharmgkbrs80357945
gwascentralrs80357945
openSNPrs80357945
23andMers80357945
23andMe allrs80357945
SNP Nexus

SNPshotrs80357945
SNPdbers80357945
MSV3drs80357945
GWAS Ctlgrs80357945
Max Magnitude6
rs80357945, also known as 3477delGT, c.3358_3359delGT and p.Val1120Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357945(;)
Alt rs80357945(;)
Reference rs80357945(GT;GT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41244189_41244190delAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031107.5, RCV000048163.2, RCV000218890.1,