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: 2018-06-05 13:45:42
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.