CDKL5 Variant



   CSV explantation text


Variant ID: cm273
Systematic name: c.514G>A
Protein name: p.Val172Ile
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.514G>A p.Val172Ile Not Rett syndrome Male 25657822, Fehr S et al (2015) cp560

Displaying a total number of 1 proband entries matching this variant.