{{Rsnum
|rsid=397515470
|Chromosome=7
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=ACTB
|position=5529175
|Gene_s=ACTB
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=7
|CLNACC=RCV000056289.26
|CLNALLE=1
|CLNDBN=Iris coloboma with ptosis, hypertelorism, and mental retardation
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1855722:243310:2995
|CLNHGVS=NC_000007.13:g.5568806C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=102630.0006
|Disease=Iris coloboma with ptosis
|FwdALT=A
|FwdREF=G
|GENEINFO=ACTB:60
|GENE_ID=60
|GENE_NAME=ACTB
|REF=C
|RSPOS=5568806
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397515470
}}