CDKL5 Proband Entry
Entry ID: cp449
Systematic name: c.533G>A
Protein name: p.Arg178Gln
Alternate name(s): p.R178Q
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - infantile spasms
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: direct, not stated
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267606715
Source: Zhao, Y., Zhang, X., Bao, X., Zhang, Q., Zhang, J., Cao, G., Zhang, J., Li, J., Wei, L., Pan, H., Wu, X. (2014) Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Medical Genetics 15:24. Pubmed ID: 24564546
Publication ID: Patient 8
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.533G>A | p.Arg178Gln | Not Rett syndrome - epileptic encephalopathy | Male | 21770923 Liang et al (2011) | cp288 |
c.533G>A | p.Arg178Gln | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp427 |
c.533G>A | p.Arg178Gln | Not Rett syndrome - epileptic encephalopathy | Female | 22678952 Bahi-Buisson et al (2012) | cp454 |
Displaying a total number of 3 proband entries.