CDKL5 Variant
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.