CDKL5 Proband Entry

Entry ID: cp479

Systematic name: c.[3003C>T;3084G>A]

Protein name: p.=

Alternate name(s): p.[H1001H;T1028T]

Mutation type: combination/multiple mutations

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not Rett syndrome - developmental delay and seizures

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, Exons 2-21

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.[3003C>T;3084G>A] p.= Rett syndrome - not certain Female 21160487 Hadzsiev et al (2011) cp279

Displaying a total number of 1 proband entries.