{{Rsnum
|rsid=387906592
|Chromosome=10
|position=88941309
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ACTA2
|Gene_s=ACTA2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=10
|CLNACC=RCV000022437.26; RCV000022438.26; RCV000037196.1
|CLNALLE=1
|CLNDBN=Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5; Congenital aneurysm of ascending aorta
|CLNDSDB=MedGen:OMIM; MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=C3151201:613834; C3279690:614042:2573; NBK1120:C0345050:607086:229:253646008
|CLNHGVS=NC_000010.10:g.90701066C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=102620.0004
|Disease=Multisystemic smooth muscle dysfunction syndrome; Moyamoya disease 5; Congenital aneurysm of ascending aorta
|FwdALT=A
|FwdREF=G
|REF=C
|RSPOS=90701066
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906592
|GENEINFO=ACTA2:59
|GENE_ID=59
|GENE_NAME=ACTA2
}}