CDKL5 Variant

   CSV explantation text

Variant ID: cm425
Systematic name: c.1942C>T
Protein name: p.Gln648*
Alternate name(s): p.G648X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant

First reference: N (2016) New perspective in diagnostics of mitochondrial disorders: two years experience with whole-exome sequencing at a national paediatric centre. J Transl Med 14(1):174. Pubmed ID: 27290639


Variant last updated on: 2019-10-10 10:59:12

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1942C>T p.Gln648* Not Rett syndrome Male 27290639, Pronicka E et al (2016) cp579

Displaying a total number of 1 proband entries matching this variant.