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

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There are no other entries in the database with a similar genotype.