CDKL5 Variant



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Variant ID: cm250
Systematic name: c.-162-?_99+?
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: 2018-10-22 15:48:05

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-162-?_99+?del p.Met1? Rett syndrome - not specified Female 19241098, Russo et al (2009) cp109
c.-162-?_99+?del p.Met1? Not Rett syndrome - early-onset seizures Female 19471977, Erez et al (2009) cp268
c.-162-?_99+? p.? Not Rett syndrome Female 25657822, Fehr S et al (2015) cp525

Displaying a total number of 3 proband entries matching this variant.