CDKL5 Variant



   CSV explantation text


Variant ID: cm247
Systematic name: c.915T>C
Protein name: p.=
Alternate name(s): p.=
Mutation type: silent
Domain:
Pathogenicity class: benign variant
dbSNP ID:

First reference: N (2016) Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy. Folia Biol (Praha) 62(2):67-74. Pubmed ID: 27187038

Comments:

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.915T>C p.= Not Rett syndrome - epileptic encephalopathy Female 27187038, Záhoráková D et al (2016) cp504

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