CDKL5 Variant
Systematic name: c.2635_2636delCT
Protein name: p.Leu879Glufs*30
Alternate name(s): p.L879fs
Mutation type: frameshift insertion and/or deletion
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
dbSNP ID: rs61753251
First reference: Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, C., Longo, I., Meloni I., Giachino, D., Bruttini, M., Hayek, G., Zapella, M., Renieri, A. (2005) CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 42:103-107. Pubmed ID: 15689447
Comments:
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.2635_2636delCT | p.Leu879Glufs*30 | Rett syndrome - early seizure | Female | 15689447, Scala et al (2005) | cp20 |
c.2635_2636delCT | p.Leu879Glufs*30 | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821, Bahi-Buisson et al (2008) | cp75 |
c.2635_2636delCT | p.Leu879Glufs*30 | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821, Bahi-Buisson et al (2008) | cp76 |
c.2635_2636delCT | p.Leu879Glufs*30 | Rett syndrome - atypical | Female | 23151060, Hagebeuk et al (2013) | cp408 |
c.2635_2636delCT | p.Leu879Glufs*30 | Not Rett syndrome - epileptic encephalopathy | Female | 22678952, Bahi-Buisson et al (2012) | cp459 |
c.2635_2636delCT | p.Leu879Glufs*30 | Not Rett syndrome - ISSX | Female | 22678952, Bahi-Buisson et al (2012) | cp460 |
Displaying a total number of 6 proband entries matching this variant.