CDKL5 Variant



   CSV explantation text


Variant ID: cm48

Systematic name: c.145+2T>C

Protein name: p.?

Alternate name(s): intronic variation (predicted effect p.E49fs)

Mutation type: splicing variant

Domain: catalytic domain

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608430

First reference: Pintaudi, M., Giuseppina Baglietto, M., Gaggero, R., Parodi, E., Pessagno, A., Marchi, M., Russo, S., Veneselli, E. (2008) Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature. Epilepsy Behav 12:326-331. Pubmed ID: 18063413

Comments: Bahi-Buisson et al 2008 suggested transcript unstable

Variant last updated on: 2014-03-13 05:43:05

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.145+2T>C p.? Rett syndrome - early-onset seizure Female 18063413, Pintaudi et al (2008) cp63
c.145+2T>C p.? Rett syndrome - atypical Female 18790821, Bahi-Buisson et al (2008) cp79

Displaying a total number of 2 proband entries matching this variant.