Variant: rs104894928 

    present in Gene: RS1;CDKL5
    present in Chromosome: X
    Position on Chromosome: 18647303
    Alleles of this Variant: C/G;T

rs104894928 in RS1;CDKL5 gene and RETINOSCHISIS 1, X-LINKED, JUVENILE PMID 10234514 1999 Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

PMID 27798099 2016 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.

PMID 9760195 1998 Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.

PMID 19849666 2009 Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.

PMID 17304551 2007 X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.

PMID 19093009 2008 Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

PMID 9326935 1997 Positional cloning of the gene associated with X-linked juvenile retinoschisis.

PMID 17615541 2007 Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

PMID 10533068 1999 Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

PMID 10079181 1999 Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.

PMID 17631851 2007 Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.

PMID 10220153 1999 Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.

PMID 10450864 1999 Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.