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rs80357444

From SNPedia

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


Make rs80357444(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093200
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357444
ebirs80357444
HLIrs80357444
Exacrs80357444
Varsomers80357444
Maprs80357444
PheGenIrs80357444
hapmaprs80357444
1000 genomesrs80357444
hgdprs80357444
ensemblrs80357444
gopubmedrs80357444
geneviewrs80357444
scholarrs80357444
googlers80357444
pharmgkbrs80357444
gwascentralrs80357444
openSNPrs80357444
23andMers80357444
23andMe allrs80357444
SNP Nexus

SNPshotrs80357444
SNPdbers80357444
MSV3drs80357444
GWAS Ctlgrs80357444
Max Magnitude6
rs80357444, also known as Y777X, c.2331T>A and p.Tyr777Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357444(A;A)
Alt rs80357444(A;A)
Reference rs80357444(T;T)
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.41245217A>T
CLNSRC ClinVar
CLNACC RCV000047803.2, RCV000111827.2,