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rs80356989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356989(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43082539
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356989
ebirs80356989
HLIrs80356989
Exacrs80356989
Varsomers80356989
Maprs80356989
PheGenIrs80356989
hapmaprs80356989
1000 genomesrs80356989
hgdprs80356989
ensemblrs80356989
gopubmedrs80356989
geneviewrs80356989
scholarrs80356989
googlers80356989
pharmgkbrs80356989
gwascentralrs80356989
openSNPrs80356989
23andMers80356989
23andMe allrs80356989
SNP Nexus

SNPshotrs80356989
SNPdbers80356989
MSV3drs80356989
GWAS Ctlgrs80356989
Max Magnitude6
rs80356989, also known as Q1408X, c.4222C>T and p.Gln1408Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356989(T;T)
Alt rs80356989(T;T)
Reference rs80356989(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Reversed 1
HGVS NC_000017.10:g.41234556G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000048492.2, RCV000077568.5, RCV000131888.2, RCV000214098.1, RCV000236506.1,