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rs80356898

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 Normal
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356898(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093844
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356898
ebirs80356898
HLIrs80356898
Exacrs80356898
Varsomers80356898
Maprs80356898
PheGenIrs80356898
hapmaprs80356898
1000 genomesrs80356898
hgdprs80356898
ensemblrs80356898
gopubmedrs80356898
geneviewrs80356898
scholarrs80356898
googlers80356898
pharmgkbrs80356898
gwascentralrs80356898
openSNPrs80356898
23andMers80356898
23andMe allrs80356898
SNP Nexus

SNPshotrs80356898
SNPdbers80356898
MSV3drs80356898
GWAS Ctlgrs80356898
Max Magnitude6
rs80356898, also known as Q563X, c.1687C>T and p.Gln563Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356898(T;T)
Alt rs80356898(T;T)
Reference rs80356898(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Ovarian cancer
Reversed 1
HGVS NC_000017.10:g.41245861G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031007.8, RCV000047559.5, RCV000131897.2, RCV000159956.2, RCV000238721.1,