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rs80357992

From SNPedia

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


Make rs80357992(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092238
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357992
ebirs80357992
HLIrs80357992
Exacrs80357992
Varsomers80357992
Maprs80357992
PheGenIrs80357992
hapmaprs80357992
1000 genomesrs80357992
hgdprs80357992
ensemblrs80357992
gopubmedrs80357992
geneviewrs80357992
scholarrs80357992
googlers80357992
pharmgkbrs80357992
gwascentralrs80357992
openSNPrs80357992
23andMers80357992
23andMe allrs80357992
SNP Nexus

SNPshotrs80357992
SNPdbers80357992
MSV3drs80357992
GWAS Ctlgrs80357992
Max Magnitude6
rs80357992, also known as 3411delCT, c.3292_3293delCT and p.Leu1098Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357992(;)
Alt rs80357992(;)
Reference rs80357992(CT;CT)
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.41244255_41244256delAG
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048127.2, RCV000112050.1,