CDKL5 Variant



Variant ID: cm130

Systematic name: c.*130_*131delinsAT

Protein name: p.=

Alternate name(s): 3'UTR variation

Mutation type: 3'UTR variation

Domain: 3'UTR

Pathogenicity class: benign variant

dbSNP ID:

First reference: Rajaei, S., Erlandson, A., Kyllerman, M., Albage, M., Lundstrom, I., Karrstedt, E.-L., Hagberg, B. (2011) Early infantile onset "congenital" Rett syndrome variants: Swedish experience through four decades and mutation analysis. Journal of Child Neurology 26:65-71. Pubmed ID: 21212452

Comments:

Variant last updated on: 2014-03-13 05:51:47

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.*130_*131delinsAT p.= Rett syndrome - congenital onset Female 21212452, Rajaei et al (2011) cp282
c.*130_*131delinsAT p.= Rett syndrome - congenital onset Female 21212452, Rajaei et al (2011) cp283
c.*130_*131delinsAT p.= Rett syndrome - congenital onset Female 21212452, Rajaei et al (2011) cp284
c.*130_*131delinsAT p.= Rett syndrome - congenital onset Female 21212452, Rajaei et al (2011) cp285

Displaying a total number of 4 proband entries matching this variant.