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rs80357572

From SNPedia

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


Make rs80357572(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43090963
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357572
ebirs80357572
HLIrs80357572
Exacrs80357572
Varsomers80357572
Maprs80357572
PheGenIrs80357572
hapmaprs80357572
1000 genomesrs80357572
hgdprs80357572
ensemblrs80357572
gopubmedrs80357572
geneviewrs80357572
scholarrs80357572
googlers80357572
pharmgkbrs80357572
gwascentralrs80357572
openSNPrs80357572
23andMers80357572
23andMe allrs80357572
SNP Nexus

SNPshotrs80357572
SNPdbers80357572
MSV3drs80357572
GWAS Ctlgrs80357572
Max Magnitude6
rs80357572, also known as 4284delAG, c.4165_4166delAG and p.Ser1389Terfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357572(;)
Alt rs80357572(;)
Reference rs80357572(AG;AG)
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.41242980_41242981delCT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048463.5, RCV000077562.3,