rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
|
20061330 |
2010 |
rs104894930
|
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 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
CausalMutation |
CLINVAR |
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 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
CausalMutation |
CLINVAR |
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
|
10234514 |
1999 |
rs104894930
|
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 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
CausalMutation |
CLINVAR |
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.
|
18541843 |
2008 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Positional cloning of the gene associated with X-linked juvenile retinoschisis.
|
9326935 |
1997 |
rs104894930
|
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 |
rs104894930
|
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 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
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 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
|
17631851 |
2007 |
rs104894930
|
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 |
rs104894930
|
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 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
CausalMutation |
CLINVAR |
Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis.
|
16167295 |
2005 |
rs104894930
|
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 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
|
17515881 |
2007 |
rs104894930
|
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 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
CausalMutation |
CLINVAR |
Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera.
|
26356828 |
2015 |
rs104894930
|
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 |
rs104894930
|
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 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.
|
9760195 |
1998 |
rs104894930
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
A |
0.800 |
CausalMutation |
CLINVAR |
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.
|
10636740 |
1999 |