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rs80357385

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357385(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094390
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357385
dbSNP (old)rs80357385
ClinGenrs80357385
ebirs80357385
HLIrs80357385
Exacrs80357385
Varsomers80357385
Maprs80357385
PheGenIrs80357385
Biobankrs80357385
1000 genomesrs80357385
hgdprs80357385
ensemblrs80357385
gopubmedrs80357385
geneviewrs80357385
scholarrs80357385
googlers80357385
pharmgkbrs80357385
gwascentralrs80357385
openSNPrs80357385
23andMers80357385
23andMe allrs80357385
SNP Nexus

SNPshotrs80357385
SNPdbers80357385
MSV3drs80357385
GWAS Ctlgrs80357385
Max Magnitude6
rs80357385, also known as K381X, c.1141A>T and p.Lys381Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357385(T;T)
Alt rs80357385(T;T)
Reference Rs80357385(A;A)
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.41246407T>A
CLNSRC ClinVar
CLNACC RCV000047359.2, RCV000111561.3,