CDKL5 Variant



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Variant ID: cm154

Systematic name: c.404-?_554+?del

Protein name: p.(Asp135Alafs*43)

Alternate name(s): p.(D135AfsX43) (deletion of exons 7 and 8)

Mutation type: exonic deletion or duplication

Domain: serine-threonine kinase site

Pathogenicity class: pathogenic variant

dbSNP ID:

First reference: Pini, G., Bigoni, S., Engerstrom, I.W., Calabrese, O., Felloni, B., Scusa, M.F., di Marco, P., Borelli, P., Bonuccelli, U., Julu, P.O.O., Nielsen, J.B., Morin, B., Hansen, S., Gobbi, G., Visconti, P., Pintaudi, M., Edvige, V., Romanelli, A., Bianchi, F., Casarano, M., Battini, R., Cioni, G., Ariani, F., Renieri, A., Benincasa, A., Delamont, R.S., Zappella, M., ESRRA group (2012) Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics 43:37-43. Pubmed ID: 22430159

Comments: protein effect not experimentally verified

Variant last updated on: 2014-03-13 05:52:46

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.404-?_554+?del p.(Asp135Alafs*43) Rett syndrome - Hanefeld Female 22430159, Pini et al (2012) cp337

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