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rs80357919

From SNPedia

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


Make rs80357919(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094685
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357919
ebirs80357919
HLIrs80357919
Exacrs80357919
Varsomers80357919
Maprs80357919
PheGenIrs80357919
hapmaprs80357919
1000 genomesrs80357919
hgdprs80357919
ensemblrs80357919
gopubmedrs80357919
geneviewrs80357919
scholarrs80357919
googlers80357919
pharmgkbrs80357919
gwascentralrs80357919
openSNPrs80357919
23andMers80357919
23andMe allrs80357919
SNP Nexus

SNPshotrs80357919
SNPdbers80357919
MSV3drs80357919
GWAS Ctlgrs80357919
Max Magnitude6
rs80357919, also known as 962del4, c.843_846delCTCA and p.Ser281_Ser282?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357919(;)
Alt rs80357919(;)
Reference rs80357919(CTCA;CTCA)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not specified
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Familial cancer of breast Hereditary cancer-predisposing syndrome not specified
Reversed 1
HGVS NC_000017.10:g.41246702_41246705delTGAG
CLNSRC Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC RCV000019253.5, RCV000049168.3, RCV000131872.2, RCV000238935.1,