CDKL5 Proband Entry



Entry ID: cp552

Systematic name: c.395T>G

Protein name: p.Val132Gly

Alternate name(s): p.V132G

Mutation type: missense

Domain: serine-threonine kinase site

Pathogenicity class: likely pathogenic variant

Gender: Female

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 14:46:44

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.395T>G p.Val132Gly Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp463
c.395T>G p.Val132Gly Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp463

Displaying a total number of 2 proband entries.
Entry ID: cp552

Systematic name: c.395T>G

Protein name: p.Val132Gly

Alternate name(s):

Mutation type: missense

Domain: serine-threonine kinase site

Pathogenicity class: variant of uncertain significance

Gender: Female

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 14:46:44

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.395T>G p.Val132Gly Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp463
c.395T>G p.Val132Gly Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp463

Displaying a total number of 2 proband entries.