CDKL5 Proband Entry
Entry ID: cp448
Systematic name: c.890_891dupTT
Protein name: p.Gln298Phefs*53
Alternate name(s): p.Q298fs
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - atypical, early onset seizures
Other mutation:
X-inactivation results: Yes - 56:44
Chromosomal abnormality: Not known
Method of testing: direct, not stated
Source of DNA: blood
Familial testing: variant also found in twin sister, de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
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 7
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.890_891dupTT | p.Gln298Phefs*53 | Rett syndrome - atypical, early onset seizures | Female | 24564546 Zhao et al (2014) | cp447 |
Displaying a total number of 1 proband entries.