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rs80357993

From SNPedia

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


Make rs80357993(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091760
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357993
ebirs80357993
HLIrs80357993
Exacrs80357993
Varsomers80357993
Maprs80357993
PheGenIrs80357993
hapmaprs80357993
1000 genomesrs80357993
hgdprs80357993
ensemblrs80357993
gopubmedrs80357993
geneviewrs80357993
scholarrs80357993
googlers80357993
pharmgkbrs80357993
gwascentralrs80357993
openSNPrs80357993
23andMers80357993
23andMe allrs80357993
SNP Nexus

SNPshotrs80357993
SNPdbers80357993
MSV3drs80357993
GWAS Ctlgrs80357993
Max Magnitude6
rs80357993, also known as 3889delAG, c.3770_3771delAG and p.Glu1257Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357993(;)
Alt rs80357993(;)
Reference rs80357993(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41243777_41243778delCT
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000031127.8, RCV000048325.5, RCV000131814.2, RCV000235232.1,