CDKL5 Proband Entry



Entry ID: cp539

Systematic name: c.2413C>T

Protein name: p.Gln805*

Alternate name(s): p.Q805X

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608659

Source: Fehr S,Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822

Publication ID:

Comments:

Entry last updated on: 2018-10-22 14:41:56

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2413C>T p.Gln805* Not Rett syndrome - early-onset epilepsy Male 23583054 Mirzaa et al (2013) cp412
c.2413C>T p.Gln805* Not Rett syndrome - early-onset epilepsy Male 23583054 Mirzaa et al (2013) cp412

Displaying a total number of 2 proband entries.
Entry ID: cp539

Systematic name: c.2413C>T

Protein name: p.Gln805*

Alternate name(s):

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Fehr S,Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822

Publication ID:

Comments:

Entry last updated on: 2018-10-22 14:41:56

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2413C>T p.Gln805* Not Rett syndrome - early-onset epilepsy Male 23583054 Mirzaa et al (2013) cp412
c.2413C>T p.Gln805* Not Rett syndrome - early-onset epilepsy Male 23583054 Mirzaa et al (2013) cp412

Displaying a total number of 2 proband entries.