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rs80357670

From SNPedia

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


Make rs80357670(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094635
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357670
ebirs80357670
HLIrs80357670
Exacrs80357670
Varsomers80357670
Maprs80357670
PheGenIrs80357670
hapmaprs80357670
1000 genomesrs80357670
hgdprs80357670
ensemblrs80357670
gopubmedrs80357670
geneviewrs80357670
scholarrs80357670
googlers80357670
pharmgkbrs80357670
gwascentralrs80357670
openSNPrs80357670
23andMers80357670
23andMe allrs80357670
SNP Nexus

SNPshotrs80357670
SNPdbers80357670
MSV3drs80357670
GWAS Ctlgrs80357670
Max Magnitude6
rs80357670, also known as 1014delGT, c.895_896delGT and p.Val299Argfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357670(;)
Alt rs80357670(;)
Reference rs80357670(GT;GT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41246652_41246653delAC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049179.3, RCV000111504.3,