CDKL5 Variant



   CSV explantation text


Variant ID: cm85

Systematic name: c.1196A>C

Protein name: p.Asn399Thr

Alternate name(s): p.N399T

Mutation type: missense

Domain: not specified

Pathogenicity class: variant of uncertain significance

dbSNP ID: rs267608611

First reference: Sprovieri, T., Conforti, F.L., Fiumara, A., Mazzei, R., Ungaro, C., Citrigno, L., Muglia, M., Arena, A., Quattrone, A. (2009) A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. American Journal of Medical Genetics Part A 149A:722-725. Pubmed ID: 19253388

Comments: in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, 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.1196A>C p.Asn399Thr Rett syndrome - early-onset seizures Female 19253388, Sprovieri et al (2009) cp136

Displaying a total number of 1 proband entries matching this variant.