CDKL5 Variant

Variant ID: cm87
Systematic name: c.215T>C
Protein name: p.Ile72Thr
Alternate name(s): p.I72T
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
dbSNP ID: rs62641235

First reference: Saletti, V., Canafoglia, L., Cambiaso, P., Russo, S., Marchi, M., Riva, D. (2009) A CDKL5 mutated child with precocious puberty. American Journal of Medical Genetics Part A 149A:1046-1051. Pubmed ID: 19396824

Comments: In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, 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.215T>C p.Ile72Thr Rett syndrome - atypical Female 19396824, Saletti et al (2009) cp138
c.215T>C p.Ile72Thr Not Rett syndrome Female 25657822, Fehr S et al (2015) cp533

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