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rs80357719

From SNPedia

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


Make rs80357719(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094679
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357719
ClinGenrs80357719
ebirs80357719
HLIrs80357719
Exacrs80357719
Varsomers80357719
Maprs80357719
PheGenIrs80357719
hapmaprs80357719
1000 genomesrs80357719
hgdprs80357719
ensemblrs80357719
gopubmedrs80357719
geneviewrs80357719
scholarrs80357719
googlers80357719
pharmgkbrs80357719
gwascentralrs80357719
openSNPrs80357719
23andMers80357719
23andMe allrs80357719
SNP Nexus

SNPshotrs80357719
SNPdbers80357719
MSV3drs80357719
GWAS Ctlgrs80357719
Max Magnitude6
rs80357719, also known as 970delAG, c.851_852delAG and p.Gln284Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk
Alt
Reference Rs80357719(AG;AG)
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.41246696_41246697delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000049174.2, RCV000112805.2,