CDKL5 Proband Entry



Entry ID: cp94

Systematic name: c.100-2A>G

Protein name: p.Glu34Lysfs*27

Alternate name(s): p.E34KfsX27 (r.100_145del, exon 4 skipping)

Mutation type: splicing variant

Domain: ATP binding region

Pathogenicity class: 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: rs267608423

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: 3

Comments:

Entry last updated on: 2014-03-13 06:06:39

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