CDKL5 Variant



Variant ID: cm265

Systematic name: c.215T>C

Protein name: p.Ile72Thr

Alternate name(s):

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely 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.215T>C p.Ile72Thr Rett syndrome - atypical Female 19396824, Saletti et al (2009) cp138
c.215T>C p.Ile72Thr Rett syndrome - atypical Female 19396824, Saletti et al (2009) cp138
c.215T>C p.Ile72Thr Not Rett syndrome Female 25657822, Fehr S et al (2015) cp533
c.215T>C p.Ile72Thr Not Rett syndrome Female 25657822, Fehr S et al (2015) cp533

Displaying a total number of 4 proband entries matching this variant.