{{Rsnum
|rsid=137854493
|Chromosome=X
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=OPHN1
|position=68299067
|Gene_s=OPHN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=300127
|variant=0003
|rsnum=137854493
}}{{ClinVar
|rsid=137854493
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=67518909
|CHROM=X
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=OPHN1:4983
|GENE_NAME=OPHN1
|GENE_ID=4983
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000023.10:g.67518909G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=300127.0003
|CLNSIG=5
|CLNCUI=C1845366
|CLNDBN=Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
|Disease=Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
|CLNACC=RCV000012335.23
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C1845366:300486:137831
}}