CDKL5 Variant
Variant ID: cm39
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
dbSNP ID: rs75057928
First reference: Archer, H.L., Evans, J., Edwards, S., Colley, J., Newbury-Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., Tolmie, J., Sampson, J., Clarke, A., Osborne, J. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729-734. Pubmed ID: 16611748
Comments: found in unaffected family members, likely to be rare polymorphism; shown in Nemos et al 2009 to have no effect on splicing
Variant last updated on: 2018-06-05 14:40:30
Matching 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.= | Unaffected - unaffected family member | Female | 18790821, Bahi-Buisson et al (2008) | cp87 |
c.555-19C>G | p.= | Unaffected - 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.= | Unaffected - 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.= | 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 20 proband entries matching this variant.