rs61752068
|
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 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel clinical manifestation of congenital X-linked retinoschisis.
|
22332228 |
2012 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.
|
21701876 |
2011 |
rs61752068
|
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 |
rs61752068
|
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 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Molecular genetic characteristics of X-linked retinoschisis in Koreans.
|
19390641 |
2009 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.
|
18369700 |
2008 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
|
17987333 |
2008 |
rs61752068
|
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 |
rs61752068
|
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 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel phenotypic and genotypic findings in X-linked retinoschisis.
|
17296904 |
2007 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
|
17615541 |
2007 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.800 |
GeneticVariation |
UNIPROT |
Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
|
17631851 |
2007 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
|
17304551 |
2007 |
rs61752068
|
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 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.
|
15937075 |
2005 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.
|
15932525 |
2005 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.
|
12928282 |
2003 |
rs61752068
|
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 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
[A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene].
|
10589241 |
1999 |
rs61752068
|
RS1;CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
T |
0.800 |
CausalMutation |
CLINVAR |
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
|
10533068 |
1999 |
rs61752068
|
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 |
rs61752068
|
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 |
rs61752068
|
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 |
rs61752068
|
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 |