CDKL5 Variant



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Variant ID: cm71

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

dbSNP ID: rs144878564

First reference: 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

Comments: identified in unaffect female with random X-inactivation pattern; in silico predictions: SIFT = tolerated, MutationTaster = polymorphism, PolyPhen2 = benign, AlignGVGD = benign (C0)

Variant last updated on: 2014-03-13 05:45:19

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1892T>C p.Ile631Thr Not Rett syndrome - early-onset encephalopathy Female 19793311, Nemos et al (2009) cp102
c.1892T>C p.Ile631Thr Unaffected - unaffected family member Female 19793311, Nemos et al (2009) cp104

Displaying a total number of 2 proband entries matching this variant.