CDKL5 Variant
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: 2018-06-05 14:40:30
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.