CDKL5 Proband Entry
Entry ID: cp126
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: Unknown
Phenotype: Not known
Other mutation:
X-inactivation results: Not known
Chromosomal abnormality: Not known
Method of testing: DHPLC, MECP2, CDKL5
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs75057928
Source: Russo, S., Marchi, M., Cogliati, F., Bonati, M.T., Pintaudi, M.,Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L. (2009) Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10:241-250. Pubmed ID: 19241098
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 Rett syndrome - infantile intractable epilepsy | Female | 21775177 Intusoma et al (2011) | cp218 |
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.