{{Rsnum
|rsid=281875329
|Chromosome=17
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=ACTG1
|position=81511224
|Gene_s=ACTG1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=17
|CLNACC=RCV000022427.26; RCV000059730.1
|CLNALLE=1
|CLNDBN=Baraitser-Winter Syndrome 2; not provided
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3281235:614583:2995
|CLNHGVS=NC_000017.10:g.79478250G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=102560.0014; VAR_067819
|Disease=Baraitser-Winter Syndrome 2; not provided
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=79478250
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050368000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=281875329
|GENEINFO=ACTG1:71
|GENE_ID=71
|GENE_NAME=ACTG1
}}{{PMID Auto
|PMID=22366783
|Title=De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
|OA=1
}}