CDKL5 Proband Entry
Entry ID: cp100
Systematic name: c.1311dupC
Protein name: p.Ser438Glnfs*25
Alternate name(s): p.S438QfsX25 (p.S438fs)
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - atypical
Other mutation:
X-inactivation results: Yes - 70:30
Chromosomal abnormality: Not known
Method of testing: direct, exons 1-21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608623
Source: Nemos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Lyet, V., N'guyen, M.A., Saunier, A., Verneau, F., Jonveaux, P., Philippe, C (2009) Mutation spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical Genetics 76:357-371. Pubmed ID: 19793311
Publication ID: 11
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.1311dupC | p.Ser438Glnfs*25 | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp70 |
Displaying a total number of 1 proband entries.