CDKL5 Variant



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Variant ID: cm10

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: 2014-03-13 05:38:10

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.