CDKL5 Proband Entry



Entry ID: cp514

Systematic name: c.1039C>T

Protein name: p.Gln347*

Alternate name(s): p.Q347X

Mutation type: nonsense

Domain: not specified

Pathogenicity class: 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: rs267608561

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.1039C>T p.Gln347* Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp290
c.1039C>T p.Gln347* Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp290
c.1039C>T p.Gln347* Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp461
c.1039C>T p.Gln347* Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp461

Displaying a total number of 4 proband entries.
Entry ID: cp514

Systematic name: c.1039C>T

Protein name: p.Gln347*

Alternate name(s):

Mutation type: nonsense

Domain: not specified

Pathogenicity class: 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 14:41:56

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1039C>T p.Gln347* Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp290
c.1039C>T p.Gln347* Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp290
c.1039C>T p.Gln347* Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp461
c.1039C>T p.Gln347* Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp461

Displaying a total number of 4 proband entries.