CDKL5 Variant

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Variant ID: cm190
Systematic name: c.2714-47C>T
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: regulatory C-terminal
Pathogenicity class: variant of uncertain significance

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: potential splicing changes? Not tested

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.2714-47C>T p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp398

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