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: 2014-03-13 06:07:05

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.