CDKL5 Variant

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Variant ID: cm186
Systematic name: c.2927C>T
Protein name: p.Pro976Leu
Alternate name(s): p.P976L
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: likely benign variant

First reference: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35

Comments: in exon 20, only affects original isoforms; In silico prediction: SIFT = tolerated, MutationTaster = polymorphism, PolyPhen2 = benign, 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.2927C>T p.Pro976Leu Rett syndrome - atypical, late regression Female Roche Martinez et al (2012) cp380

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