CDKL5 Variant



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Variant ID: cm251
Systematic name: c.-253-?_*1085del
Protein name: p.?
Alternate name(s):
Mutation type: 5'UTR variation
Domain: 5'UTR
Pathogenicity class: pathogenic variant
dbSNP ID:

First reference: Fehr S,Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822

Comments:

Variant last updated on: 2018-10-23 12:21:11

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Male 20493745, Castren et al (2011) cp196
c.-253-?_*1085del p.? Not Rett syndrome - epileptic encephalopathy Male 20493745, Castren et al (2011) cp196
c.-253-?_*1085del p.Met1? Not Rett syndrome - early onset epileptic encephalopathy Female 19780792, Mei et al (2010) cp202
c.-253-?_*1085del p.? Not Rett syndrome - early onset epileptic encephalopathy Female 19780792, Mei et al (2010) cp202
c.-253-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp296
c.-253-?_*1085del p.? Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp296
c.-253-?_*1085del p.Met1? Not Rett syndrome - early-onset epilepsy Female 22832775, Jahn et al (2013) cp418
c.-253-?_*1085del p.? Not Rett syndrome - early-onset epilepsy Female 22832775, Jahn et al (2013) cp418
c.-253-?_*1085del p.Met1? Rett syndrome - atypical Female 23828526, Ermel et al (2013) cp421
c.-253-?_*1085del p.? Rett syndrome - atypical Female 23828526, Ermel et al (2013) cp421
c.-253-?_*1085del p.Met1? Not Rett syndrome Female 25657822, Fehr S et al (2015) cp543
c.-253-?_*1085del p.? Not Rett syndrome Female 25657822, Fehr S et al (2015) cp543

Displaying a total number of 12 proband entries matching this variant.