CDKL5 Proband Entry

Entry ID: cp469

Systematic name: c.549dupA

Protein name: p.Leu184Thrfs*22

Alternate name(s): p.L184fs

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not known

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, not stated

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No


Source: Directly submitted


Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.549dupA p.Leu184Thrfs*22 Not Rett syndrome - early-onset seizures Female 23828526 Ermel et al (2013) cp420

Displaying a total number of 1 proband entries.