CDKL5 Variant



Variant ID: cm300

Systematic name: c.2377-8T>A

Protein name: p.Val793Leufs*2

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

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

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