{{Rsnum
|rsid=387906702
|Chromosome=X
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SMC1A
|position=53403635
|Gene_s=SMC1A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=G
|CHROM=X
|CLNACC=RCV000022820.1
|CLNALLE=1
|CLNDBN=Congenital muscular hypertrophy-cerebral syndrome
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1104:C1802395:300590:199:55016009
|CLNHGVS=NC_000023.10:g.53430567A>G
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300040.0005
|Disease=Congenital muscular hypertrophy-cerebral syndrome
|FwdALT=C
|FwdREF=T
|REF=A
|RSPOS=53430567
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;NSM;REF;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000a01000002110100
|WGT=1
|dbSNPBuildID=137
|rsid=387906702
}}