rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
|
27798099 |
2016 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
|
23847049 |
2013 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
|
20061330 |
2010 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
|
18834580 |
2009 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
|
19849666 |
2009 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
|
17631851 |
2007 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
|
17304551 |
2007 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
|
17615541 |
2007 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
|
16361673 |
2006 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.
|
12417531 |
2002 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
|
10234514 |
1999 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
|
10220153 |
1999 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
|
10079181 |
1999 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
|
10533068 |
1999 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
|
10450864 |
1999 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
|
9618178 |
1998 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.
|
9760195 |
1998 |
rs62645894
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Positional cloning of the gene associated with X-linked juvenile retinoschisis.
|
9326935 |
1997 |