CDKL5 Proband Entry
Entry ID: cp102
Systematic name: c.1892T>C
Protein name: p.Ile631Thr
Alternate name(s): p.I631T
Mutation type: missense
Domain: not specified
Pathogenicity class: likely benign variant
Gender: Female
Phenotype: Not Rett syndrome - early-onset encephalopathy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, exons 1-21
Source of DNA: blood
Familial testing: mother carrier
Familial X-inactivation: carrier mother with balanced X-inactivation
Control screening: No
dbSNP ID: rs144878564
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:
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.1892T>C | p.Ile631Thr | Not known - unaffected family member | Female | 19793311 Nemos et al (2009) | cp104 |
Displaying a total number of 1 proband entries.