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rs80357774

From SNPedia

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


Make rs80357774(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094513
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357774
ebirs80357774
HLIrs80357774
Exacrs80357774
Varsomers80357774
Maprs80357774
PheGenIrs80357774
hapmaprs80357774
1000 genomesrs80357774
hgdprs80357774
ensemblrs80357774
gopubmedrs80357774
geneviewrs80357774
scholarrs80357774
googlers80357774
pharmgkbrs80357774
gwascentralrs80357774
openSNPrs80357774
23andMers80357774
23andMe allrs80357774
SNP Nexus

SNPshotrs80357774
SNPdbers80357774
MSV3drs80357774
GWAS Ctlgrs80357774
Max Magnitude6
rs80357774, also known as 1137delG, c.1018_1018delG and p.Val340Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357774(;)
Alt rs80357774(;)
Reference rs80357774(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast not provided
Reversed 1
HGVS NC_000017.10:g.41246530delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000030968.6, RCV000047311.2, RCV000236511.1,