CDKL5 Variant
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.