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rs80357527

From SNPedia

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


Make rs80357527(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094039
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357527
ebirs80357527
HLIrs80357527
Exacrs80357527
Varsomers80357527
Maprs80357527
PheGenIrs80357527
hapmaprs80357527
1000 genomesrs80357527
hgdprs80357527
ensemblrs80357527
gopubmedrs80357527
geneviewrs80357527
scholarrs80357527
googlers80357527
pharmgkbrs80357527
gwascentralrs80357527
openSNPrs80357527
23andMers80357527
23andMe allrs80357527
SNP Nexus

SNPshotrs80357527
SNPdbers80357527
MSV3drs80357527
GWAS Ctlgrs80357527
Max Magnitude6
rs80357527, also known as 1611delC, c.1492_1492delC and p.Leu498Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357527(;)
Alt rs80357527(;)
Reference rs80357527(C;C)
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.41246056delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000047495.2, RCV000111631.1,