CDKL5 Variant



Variant ID: cm4

Systematic name: c.3003C>T

Protein name: p.=

Alternate name(s): p.H1001H

Mutation type: silent

Domain: regulatory C-terminal

Pathogenicity class: benign variant

dbSNP ID: rs36022183

First reference: Tao, J., Van Esch, H., Hage-dorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.-P., Schwinger, E., Gecz, J., Ropers, H.-H., Kalcheuer, V.M. (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149-1154. Pubmed ID: 15499549

Comments: silent mutation, often found in cis with c.145+17A>G and c.3084G>A (p.T1028T)

Variant last updated on: 2014-03-13 05:37:22

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[145+17A>G;3003C>T;3084G>A] p.= Rett syndrome - not certain Female 15499549, Tao et al (2004) cp5
c.[145+17A>G;3003C>T;3084G>A] p.= Unaffected - normal control Unknown 15499549, Tao et al (2004) cp6
c.[145+17A>G;3003C>T;3084G>A] p.= Unaffected - normal control Unknown 15499549, Tao et al (2004) cp7
c.[404-53T>C;3003C>T;3084G>A] p.= Not known Female 19241098, Russo et al (2009) cp127
c.[404-53T>C;3003C>T;3084G>A] p.= Unaffected - unaffected family member Female 19241098, Russo et al (2009) cp128
c.3003C>T p.= Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp255
c.3003C>T p.= Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp256
c.3003C>T p.= Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp257
c.3003C>T p.= Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp258
c.[3003C>T;3084G>A] p.= Rett syndrome - not certain Female 21160487, Hadzsiev et al (2011) cp279
c.[145+17A>G;3003C>T;3084G>A] p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051, Maortua et al (2012) cp328
c.[145+17A>G;3003C>T;3084G>A] p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051, Maortua et al (2012) cp329
c.3003C>T p.= Rett syndrome - not certain Female Roche Martinez et al (2012) cp400
c.3003C>T p.= Unaffected - unaffected family member Female Roche Martinez et al (2012) cp403
c.[3003C>T;3084G>A] p.= Not Rett syndrome - developmental delay and seizures Female Directly submitted cp479
[c.145+17A>G;c.146-98A>G;c.404-57T>C;c.2153-47_2153-38del10; c.3003C>T;c.3084G>A p.= Not Rett syndrome - West syndrome Male 27187038, et al () cp501

Displaying a total number of 16 proband entries matching this variant.