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rs80357872

From SNPedia

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


Make rs80357872(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099808
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357872
ebirs80357872
HLIrs80357872
Exacrs80357872
Varsomers80357872
Maprs80357872
PheGenIrs80357872
hapmaprs80357872
1000 genomesrs80357872
hgdprs80357872
ensemblrs80357872
gopubmedrs80357872
geneviewrs80357872
scholarrs80357872
googlers80357872
pharmgkbrs80357872
gwascentralrs80357872
openSNPrs80357872
23andMers80357872
23andMe allrs80357872
SNP Nexus

SNPshotrs80357872
SNPdbers80357872
MSV3drs80357872
GWAS Ctlgrs80357872
Max Magnitude6
rs80357872, also known as 633delC, c.514_514delC and p.Gln172Asnfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357872(;)
Alt rs80357872(;)
Reference rs80357872(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41251825delG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048817.5, RCV000083216.4, RCV000130785.2, RCV000212158.1,