CDKL5 Variant



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

dbSNP ID:

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: 2014-05-15 05:57:52

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.