CDKL5 Proband Entry
Entry ID: cp504
Systematic name: c.915T>C
Protein name: p.=
Alternate name(s): p.=
Mutation type: silent
Domain:
Pathogenicity class: benign variant
Gender: Female
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: Not known
Chromosomal abnormality: Not known - 200 controls (300 chromosomes)
Method of testing: HRM, sequencing
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: 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
Publication ID:
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
There are no other entries in the database with a similar genotype.