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rs80357727

From SNPedia

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


Make rs80357727(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091489
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357727
ebirs80357727
HLIrs80357727
Exacrs80357727
Varsomers80357727
Maprs80357727
PheGenIrs80357727
hapmaprs80357727
1000 genomesrs80357727
hgdprs80357727
ensemblrs80357727
gopubmedrs80357727
geneviewrs80357727
scholarrs80357727
googlers80357727
pharmgkbrs80357727
gwascentralrs80357727
openSNPrs80357727
23andMers80357727
23andMe allrs80357727
SNP Nexus

SNPshotrs80357727
SNPdbers80357727
MSV3drs80357727
GWAS Ctlgrs80357727
Max Magnitude6
rs80357727, also known as 4160delAG, c.4041_4042delAG and p.Arg1347_Gly1348ArgAsnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357727(;)
Alt rs80357727(;)
Reference rs80357727(AG;AG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided not specified
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided not specified
Reversed 1
HGVS NC_000017.10:g.41243506_41243507delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000074588.5, RCV000077560.4, RCV000131889.2, RCV000235130.1, RCV000238700.1,