rs121434528

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	7.1	Thoracic aortic aneurysm and dissection (TAAD) mutation

Make rs121434528(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

88939543

Gene	ACTA2, ACTA2-AS1

is a	snp
is	mentioned by
dbSNP	rs121434528
dbSNP (classic)	rs121434528
ClinGen	rs121434528
ebi	rs121434528
HLI	rs121434528
Exac	rs121434528
Gnomad	rs121434528
Varsome	rs121434528
LitVar	rs121434528
Map	rs121434528
PheGenI	rs121434528
Biobank	rs121434528
1000 genomes	rs121434528
hgdp	rs121434528
ensembl	rs121434528
geneview	rs121434528
scholar	rs121434528
google	rs121434528
pharmgkb	rs121434528
gwascentral	rs121434528
openSNP	rs121434528
23andMe	rs121434528
SNPshot	rs121434528
SNPdbe	rs121434528
MSV3d	rs121434528
GWAS Ctlg	rs121434528

Max Magnitude

7.1

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.

OMIM	102620
Desc
Variant	0003
Related	also

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,