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rs80357991

From SNPedia

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


Make rs80357991(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092532
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357991
ebirs80357991
HLIrs80357991
Exacrs80357991
Varsomers80357991
Maprs80357991
PheGenIrs80357991
hapmaprs80357991
1000 genomesrs80357991
hgdprs80357991
ensemblrs80357991
gopubmedrs80357991
geneviewrs80357991
scholarrs80357991
googlers80357991
pharmgkbrs80357991
gwascentralrs80357991
openSNPrs80357991
23andMers80357991
23andMe allrs80357991
SNP Nexus

SNPshotrs80357991
SNPdbers80357991
MSV3drs80357991
GWAS Ctlgrs80357991
Max Magnitude6
rs80357991, also known as 3118delA, c.2999_2999delA and p.Glu1000Glyfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357991(;)
Alt rs80357991(;)
Reference rs80357991(A;A)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244549delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048036.3, RCV000083193.4,