CDKL5 Variant



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Variant ID: cm11

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: 2014-03-13 05:38:10

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.