{{Rsnum
|rsid=281875332
|Chromosome=7
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=ACTB
|position=5529331
|Gene_s=ACTB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=7
|CLNACC=RCV000022441.25; RCV000059718.1
|CLNALLE=1
|CLNDBN=Iris coloboma with ptosis, hypertelorism, and mental retardation; not provided
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1855722:243310:2995
|CLNHGVS=NC_000007.13:g.5568962G>C
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=102630.0004; VAR_067811
|Disease=Iris coloboma with ptosis; not provided
|FwdALT=G
|FwdREF=C
|REF=G
|RSPOS=5568962
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050368000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=281875332
|GENEINFO=ACTB:60
|GENE_ID=60
|GENE_NAME=ACTB
}}{{PMID Auto
|PMID=22366783
|Title=De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|OA=1
}}