CDKL5 Proband Entry



Entry ID: cp107

Systematic name: c.175C>T

Protein name: p.Arg59*

Alternate name(s): p.R59X

Mutation type: nonsense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: not known, not known

Source of DNA: not certain

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs62653623

Source: Ricciardi, S., Kilstrup-Nielsen, C., Bienvenu, T., Jacquette, A., Landsberger, N., Broccoli, V. (2009) CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. Human Molecular Genetics 18:4590-4602. Pubmed ID: 19740913

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:07:05

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.175C>T p.Arg59* Not Rett syndrome - epileptic encephalopathy Female 16611748 Archer et al (2006) cp48
c.175C>T p.Arg59* Rett syndrome - early-onset seizures Female 20493745 Castren et al (2011) cp195
c.175C>T p.Arg59* Not Rett syndrome - early-onset epilepsy Male 23583054 Mirzaa et al (2013) cp413
c.175C>T p.Arg59* Rett syndrome - atypical Female 22678952 Bahi-Buisson et al (2012) cp456

Displaying a total number of 4 proband entries.