CDKL5 Variant
Systematic name: c.163_166delGAAA
Protein name: p.Glu55Argfs*20
Alternate name(s): p.E55fs
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608433
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.163_166delGAAA | p.Glu55Argfs*20 | Rett syndrome - early seizure | Female | 15689447, Scala et al (2005) | cp19 |
c.163_166delGAAA | p.Glu55Argfs*20 | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792, Mei et al (2010) | cp200 |
Displaying a total number of 2 proband entries matching this variant.