RS1

Retinoschisin 1
Diseases associated with this gene: RS1
LOVD Gene: RS1
NCBI Gene: RS1
Gene Home Reference: RS1
Ensembl gene: ENSG00000102104
Ensembl location: ENSG00000102104

OMIM gene: 300839
Curator: Johan den Dunnen, Markus Preising
Download Finnish RS1 variants in tab-separated format.

 Finnish Variants

Path.
Exon
DNA change  
Var_pub_as
RNA change
Protein
DB-ID
Variant remarks
Origin
Reference
Detection/Template
Detection/Technique
Frequency
RE-site
Protein_data
Disease
Phenotype additional
Remarks
Reference
Inheritance
Consanguinity
Families/Patients
# Reported
Geographic origin
Ethnic origin
Gender
Age_onset
Phenotype_onset
+/? 1_6 c.0    + c.325G>C - r.0 p.0 RS1_00000 no paternal X-chromosome germline (inherited) - DNA ? - - - retinoschisis, X-linked, type-1 (RS-1) - 19% of Finnish RS mutations JdD familial - - 1 Finland - M - -
+/? 1_6 c.0    + c.325G>C - r.0 p.0 RS1_00000 no paternal X-chromosome germline (inherited) - DNA ? - - - retinoschisis, X-linked, type-1 (RS-1) - - JdD familial - - 1 Finland - ? - -
+/? 1_6 c.0    + c.214G>A - r.0 p.0 RS1_00000 no paternal X-chromosome germline (inherited) - DNA ? - - - retinoschisis, X-linked, type-1 (RS-1) - 70% of Finnish RS mutations JdD familial - - 1 Finland - M - -
+/? 1_6 c.0    + c.221G>T - r.0 p.0 RS1_00000 no paternal X-chromosome germline (inherited) - DNA ? - - - retinoschisis, X-linked, type-1 (RS-1) - 6% of Finnish RS mutations JdD familial - - 1 Finland - M - -
+/? 1_6 c.0    + c.608C>T - r.0 p.0 RS1_00000 no paternal X-chromosome germline (inherited) - DNA ? - - - retinoschisis, X-linked, type-1 (RS-1) - - JdD familial - - 1 Finland - ? - -
+/? 1_6 c.0    + c.554C>A - r.0 p.0 RS1_00000 no paternal X-chromosome germline (inherited) - DNA ? - - - retinoschisis, X-linked, type-1 (RS-1) - - JdD familial - - 1 Finland - ? - -
+/? 1_6 c.0    + c.625C>G - r.0 p.0 RS1_00000 no paternal X-chromosome germline (inherited) - DNA ? - - - retinoschisis, X-linked, type-1 (RS-1) - - JdD familial - - 1 Finland - ? - -
+/? 4 c.214G>A    + c.0 - r.(?) p.(Glu72Lys) RS1_00029 - germline (inherited) Huopaniemi 1999 DNA SSCA - TaqI- - retinoschisis, X-linked, type-1 (RS-1) - 70% of Finnish RS mutations JdD familial - - 1 Finland - M - -
+/? 4 c.221G>T    + c.0 - r.(?) p.(Gly74Val) RS1_00031 - germline (inherited) Huopaniemi 1999, (OMIM 0005) DNA SSCA - -MnlI - retinoschisis, X-linked, type-1 (RS-1) - 6% of Finnish RS mutations JdD familial - - 1 Finland - M - -
+/? 4 c.325G>C    + c.0 - r.(?) p.(Gly109Arg) RS1_00006 - germline (inherited) Huopaniemi 1999, (OMIM 0006) DNA SSCA - - - retinoschisis, X-linked, type-1 (RS-1) - 19% of Finnish RS mutations JdD familial - - 1 Finland - M - -
+/? 4 c.325G>C    + c.0 - r.(?) p.(Gly109Arg) RS1_00006 - germline (inherited) RS-consortium 1998, group 4 DNA SSCA - - - retinoschisis, X-linked, type-1 (RS-1) - - JdD familial - - 1 Finland - ? - -
+/? 6 c.554C>A    + c.0 - r.(?) p.(Thr185Lys) RS1_00098 - germline (inherited) Huopaniemi 1999 DNA SSCA - +DsaI, -StyI - retinoschisis, X-linked, type-1 (RS-1) - - JdD familial - - 1 Finland - ? - -
+/? 6 c.608C>T    + c.0 - r.(?) p.(Pro203Leu) RS1_00077 - germline (inherited) Huopaniemi 1999 DNA SSCA - -MspA1I - retinoschisis, X-linked, type-1 (RS-1) - - JdD familial - - 1 Finland - ? - -
+/? 6 c.625C>G    + c.0 - r.(?) p.(Arg209Gly) RS1_00099 - germline (inherited) Huopaniemi 1999 DNA SSCA - -AciI - retinoschisis, X-linked, type-1 (RS-1) - - JdD familial - - 1 Finland - ? - -


 All Variants

 RS1 - All Variants





FinDis has received funding from the Academy of Finland, Center of Excellence in Disease Genetics
and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.