CDKL5 Proband Entry
Entry ID: cp218
Systematic name: c.555-19C>G
Protein name: p.=
Alternate name(s): intronic variation (IVS8-19C>G)
Mutation type: intronic variant
Domain: catalytic domain
Pathogenicity class: benign variant
Gender: Female
Phenotype: Not Rett syndrome - infantile intractable epilepsy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, CDKL5 Exon 2-21
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs75057928
Source: Intusoma, U., Hayeeduereh, F., Plong-On, O., Sripo, T., Vasiknanonte, P., Janjindamai, S., Lusawat, A., Thammongkol, S., Visudtibhan, A., Limprasert, P. (2011) Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. European Journal of Paediatric Neurology 15:432-438. Pubmed ID: 21775177
Publication ID:
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.555-19C>G | p.= | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp52 |
c.555-19C>G | p.= | Not Rett syndrome - not certain | Female | 16611748 Archer et al (2006) | cp53 |
c.555-19C>G | p.= | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp81 |
c.555-19C>G | p.= | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp82 |
c.555-19C>G | p.= | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp83 |
c.555-19C>G | p.= | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp84 |
c.555-19C>G | p.= | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp85 |
c.555-19C>G | p.= | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp86 |
c.555-19C>G | p.= | Not known - unaffected family member | Female | 18790821 Bahi-Buisson et al (2008) | cp87 |
c.555-19C>G | p.= | Not known - unaffected family member | Female | 18790821 Bahi-Buisson et al (2008) | cp88 |
c.555-19C>G | p.= | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp101 |
c.555-19C>G | p.= | Not known - unaffected family member | Female | 19793311 Nemos et al (2009) | cp103 |
c.555-19C>G | p.= | Not known | Unknown | 19241098 Russo et al (2009) | cp125 |
c.555-19C>G | p.= | Not known | Unknown | 19241098 Russo et al (2009) | cp126 |
c.555-19C>G | p.= | Rett syndrome - atypical | Female | Directly submitted | cp474 |
c.555-19C>G | p.= | Not Rett syndrome - epileptic encephalopathy | Female | Directly submitted | cp481 |
c.555-19C>G | p.= | Not Rett syndrome - severe mental retardation and early seizures | Female | Directly submitted | cp484 |
c.555-19C>G | p.= | Not Rett syndrome - epileptic encephalopathy | Female | Directly submitted | cp490 |
c.555-19C>G | p.= | Not Rett syndrome - not certain | Female | Directly submitted | cp492 |
Displaying a total number of 19 proband entries.