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rs121434528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7.1 Thoracic aortic aneurysm and dissection (TAAD) mutation
Make rs121434528(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position88939543
GeneACTA2, ACTA2-AS1
is asnp
is mentioned by
dbSNPrs121434528
dbSNP (old)rs121434528
ClinGenrs121434528
ebirs121434528
HLIrs121434528
Exacrs121434528
Varsomers121434528
Maprs121434528
PheGenIrs121434528
Biobankrs121434528
1000 genomesrs121434528
hgdprs121434528
ensemblrs121434528
gopubmedrs121434528
geneviewrs121434528
scholarrs121434528
googlers121434528
pharmgkbrs121434528
gwascentralrs121434528
openSNPrs121434528
23andMers121434528
23andMe allrs121434528
SNP Nexus

SNPshotrs121434528
SNPdbers121434528
MSV3drs121434528
GWAS Ctlgrs121434528
Max Magnitude7.1

rs121434528, also known as c.772C>T, p.Arg258Cys and R258C, represents a rare mutation in the ACTA2 gene on chromosome 10.

The R258C mutation is one of several dominant mutations in the ACTA2 gene associated with significantly greater risk and early onset of familial thoracic aortic aneurysm and dissection (TAAD) and moyamoya-like cerebrovascular disease. Moyamoya, a rare disease in which arteries at the base of the brain are blocked, usually strikes in childhood but can occur in adults. Strokes or ministrokes (transient ischemic attacks) are often the first symptoms of the condition.

OMIM102620
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434528(T;T)
Alt rs121434528(T;T)
Reference Rs121434528(C;C)
Significance Pathogenic
Disease Aortic aneurysm Moyamoya disease 5 Thoracic aortic aneurysm and aortic dissection
Variation info
Gene ACTA2 STAMBPL1 ACTA2-AS1
CLNDBN Aortic aneurysm, familial thoracic 6 Moyamoya disease 5 Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000010.10:g.90699300G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019940.27, RCV000022436.27, RCV000252066.1,