CDKL5 Proband Entry

Entry ID: cp466

Systematic name: c.1675C>T

Protein name: p.Arg559*

Alternate name(s): p.R559X

Mutation type: nonsense

Domain: not specified

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

dbSNP ID: rs267608395

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.[1675C>T];[=] p.[Arg559*];[=] Rett syndrome - early-onset seizures Male 19161156 Sartori et al (2009) cp137
c.1675C>T p.Arg559* Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp293

Displaying a total number of 2 proband entries.