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rs80357998

From SNPedia

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


Make rs80357998(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43092732
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357998
ebirs80357998
HLIrs80357998
Exacrs80357998
Varsomers80357998
Maprs80357998
PheGenIrs80357998
hapmaprs80357998
1000 genomesrs80357998
hgdprs80357998
ensemblrs80357998
gopubmedrs80357998
geneviewrs80357998
scholarrs80357998
googlers80357998
pharmgkbrs80357998
gwascentralrs80357998
openSNPrs80357998
23andMers80357998
23andMe allrs80357998
SNP Nexus

SNPshotrs80357998
SNPdbers80357998
MSV3drs80357998
GWAS Ctlgrs80357998
Max Magnitude6
rs80357998, also known as 2918delT, c.2799_2799delT and p.Gly933=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357998(;)
Alt rs80357998(;)
Reference rs80357998(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244749delA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000111941.1,