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rs80357789

From SNPedia

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


Make rs80357789(-;-)
ReferenceGRCh38 38.1/142
Chromosome17
Position43094733
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357789
ebirs80357789
HLIrs80357789
Exacrs80357789
Varsomers80357789
Maprs80357789
PheGenIrs80357789
hapmaprs80357789
1000 genomesrs80357789
hgdprs80357789
ensemblrs80357789
gopubmedrs80357789
geneviewrs80357789
scholarrs80357789
googlers80357789
pharmgkbrs80357789
gwascentralrs80357789
openSNPrs80357789
23andMers80357789
23andMe allrs80357789
SNP Nexus

SNPshotrs80357789
SNPdbers80357789
MSV3drs80357789
GWAS Ctlgrs80357789
Max Magnitude6
rs80357789, also known as 916delTT, c.797_798delTT and p.Val266=fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357789(;)
Alt rs80357789(;)
Reference rs80357789(TT;TT)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41246749_41246750delAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000031279.7, RCV000049141.5, RCV000131867.2, RCV000167858.1,