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.