CDKL5 Proband Entry
Entry ID: cp558
Systematic name: c.464-2A>G
Protein name: p.Gly155Alafs*43
Alternate name(s): p.G155fs (IVS7-2A>G)
Mutation type: splicing variant
Domain: catalytic domain
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: rs267608480
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.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome - severe epileptic encephalopathy | Female | 16015284 Evans et al (2005) | cp29 |
c.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp422 |
Displaying a total number of 2 proband entries.
Entry ID: cp558
Systematic name: c.464-2A>G
Protein name: p.Gly155Alafs*43
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
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.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome - severe epileptic encephalopathy | Female | 16015284 Evans et al (2005) | cp29 |
c.464-2A>G | p.Gly155Alafs*43 | Not Rett syndrome - early-onset epileptic encephalopathy | Male | 23708187 Carvill et al (2013) | cp422 |
Displaying a total number of 2 proband entries.