CDKL5 Variant
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, Zahorakova D et al (2016) | cp504 |
Displaying a total number of 1 proband entries matching this variant.