CDKL5 Variant



Variant ID: cm68

Systematic name: c.463+1G>A

Protein name: p.Asp135_Phe154del

Alternate name(s): p.D135_F154del (r.404_463del, exon 7 skipping)

Mutation type: splicing variant

Domain: catalytic domain

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608479

First reference: Nemos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Lyet, V., N'guyen, M.A., Saunier, A., Verneau, F., Jonveaux, P., Philippe, C (2009) Mutation spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical Genetics 76:357-371. Pubmed ID: 19793311

Comments: splice site mutation causing skipping of exon 7

Variant last updated on: 2014-03-13 05:45:19

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.463+1G>A p.Asp135_Phe154del Rett syndrome - atypical Female 19793311, Nemos et al (2009) cp96

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