CDKL5 Proband Entry
Entry ID: cp99
Systematic name: c.680T>G
Protein name: p.Leu227Arg
Alternate name(s): p.L227R
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early-onset encephalopathy
Other mutation:
X-inactivation results: Yes - 55:45
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: rs267608515
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: 10
Comments:
Entry last updated on: 2018-06-05 13:45:42
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