CDKL5 Proband Entry



Entry ID: cp475

Systematic name: c.2564C>G

Protein name: p.Ser855*

Alternate name(s): p.S855X

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early onset seizures

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, Exons 2-21

Source of DNA: blood

Familial testing: not found in father or mother

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Directly submitted

Comments:

Entry last updated on: 2015-02-26 03:24:09

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2564C>G p.Ser855* Not Rett syndrome - infantile spasms Female 23708187 Carvill et al (2013) cp425

Displaying a total number of 1 proband entries.