CDKL5 Variant

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Variant ID: cm46
Systematic name: c.194G>A
Protein name: p.Arg65Gln
Alternate name(s): p.R65Q
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: benign variant
dbSNP ID: rs267608436

First reference: Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, J., Girard, B., N'Guyen Morel, M.A., Gitiaux, C., Lazaro, L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet 45:172-178. Pubmed ID: 17993579

Comments: reported in paper as c.193C>A, but chromatogram shows c.194G>A; found in unaffected male family member; however, In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C35)

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.194G>A p.Arg65Gln Rett syndrome - atypical (not early-onset seizures) Female 17993579, Rosas-Vargas et al (2008) cp60
c.194G>A p.Arg65Gln Unaffected - unaffected family member Male 17993579, Rosas-Vargas et al (2008) cp61

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