{{Rsnum
|rsid=104894928
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RS1
|position=18647303
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CDKL5,RS1
}}{{omim
|id=312700
|rsnum=104894928
|variant=0003
}}{{ClinVar
|rsid=104894928
|Reversed=0
|FwdREF=C
|FwdALT=G,T
|REF=C
|ALT=G,T
|RSPOS=18665423
|CHROM=X
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050360000000000002110100
|GENEINFO=CDKL5:6792; RS1:6247
|GENE_NAME=CDKL5; RS1
|GENE_ID=6792; 6247
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000023.10:g.18665423C>G; NC_000023.10:g.18665423C>T
|CLNORIGIN=1
|CLNSIG=5
|CLNCUI=312700
|CLNDBN=not provided; Juvenile retinoschisis
|Tags=PM;S3D;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000085250.1; RCV000010566.5; RCV000085249.1
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1222:C0271091:312700:792:86923008
|CLNSRC=Retina International; OMIM Allelic Variant
|CLNSRCID=RISN-XLRS:c.214G>C; 300839.0003; RISN-XLRS:c.214G>A
|Disease=not provided; Juvenile retinoschisis
}}