{{Rsnum
|rsid=281875327
|Chromosome=17
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=ACTG1
|position=81511382
|Gene_s=ACTG1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=17
|CLNACC=RCV000022425.25; RCV000059727.1
|CLNALLE=1
|CLNDBN=Baraitser-Winter Syndrome 2; not provided
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3281235:614583:2995
|CLNHGVS=NC_000017.10:g.79478408G>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNSRCID=102560.0012; VAR_067817
|Disease=Baraitser-Winter Syndrome 2; not provided
|FwdALT=A
|FwdREF=C
|REF=G
|RSPOS=79478408
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD
|VC=SNV
|VP=0x050368000000000002100100
|WGT=0
|dbSNPBuildID=137
|rsid=281875327
|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
}}