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* | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp461 |
Displaying a total number of 2 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* | Rett syndrome - early-onset seizure | Female | 19362436 Artuso et al (2010) | cp461 |
Displaying a total number of 2 proband entries.