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rs80356928

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356928(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093784
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356928
ebirs80356928
HLIrs80356928
Exacrs80356928
Varsomers80356928
Maprs80356928
PheGenIrs80356928
hapmaprs80356928
1000 genomesrs80356928
hgdprs80356928
ensemblrs80356928
gopubmedrs80356928
geneviewrs80356928
scholarrs80356928
googlers80356928
pharmgkbrs80356928
gwascentralrs80356928
openSNPrs80356928
23andMers80356928
23andMe allrs80356928
SNP Nexus

SNPshotrs80356928
SNPdbers80356928
MSV3drs80356928
GWAS Ctlgrs80356928
Max Magnitude6
rs80356928, also known as K583X, c.1747A>T and p.Lys583Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356928(G,T;G,T)
Alt rs80356928(G,T;G,T)
Reference rs80356928(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 1
HGVS NC_000017.10:g.41245801T>A; NC_000017.10:g.41245801T>C
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000047576.2, RCV000111673.1, RCV000077079.2, RCV000131990.2, RCV000168342.2,