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rs80357977

From SNPedia

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


Make rs80357977(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082509
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357977
ebirs80357977
HLIrs80357977
Exacrs80357977
Varsomers80357977
Maprs80357977
PheGenIrs80357977
hapmaprs80357977
1000 genomesrs80357977
hgdprs80357977
ensemblrs80357977
gopubmedrs80357977
geneviewrs80357977
scholarrs80357977
googlers80357977
pharmgkbrs80357977
gwascentralrs80357977
openSNPrs80357977
23andMers80357977
23andMe allrs80357977
SNP Nexus

SNPshotrs80357977
SNPdbers80357977
MSV3drs80357977
GWAS Ctlgrs80357977
Max Magnitude6
rs80357977, also known as 4370delGT, c.4251_4252delGT and p.Val1417_Leu1418ValArgfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357977(;)
Alt rs80357977(;)
Reference rs80357977(GT;GT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41234526_41234527delAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031160.4, RCV000048501.2, RCV000162875.1,