CDKL5 Variant

Variant ID: cm76
Systematic name: c.380A>G
Protein name: p.His127Arg
Alternate name(s): p.H127R
Mutation type: missense
Domain: serine-threonine kinase site
Pathogenicity class: likely pathogenic variant
dbSNP ID: rs267608468

First reference: Russo, S., Marchi, M., Cogliati, F., Bonati, M.T., Pintaudi, M.,Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L. (2009) Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10:241-250. Pubmed ID: 19241098

Comments: In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = possibly pathogenic (C25)

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.380A>G p.His127Arg Rett syndrome - not specified Female 19241098, Russo et al (2009) cp111
c.380A>G p.His127Arg Not known Female Directly submitted cp473
c.380A>G p.His127Arg Not Rett syndrome - early onset seizures Female Directly submitted cp483

Displaying a total number of 3 proband entries matching this variant.