CDKL5 Variant

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Variant ID: cm1
Systematic name: c.183delT
Protein name: p.Met63Cysfs*13
Alternate name(s): p.M63fs
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID: rs62643608

First reference: Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L.D., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J. (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:1079-1093. Pubmed ID: 15492925

Comments: frameshift mutation in exon 5, leads to a truncated polypeptide with 74 amino acid residues

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.183delT p.Met63Cysfs*13 Not Rett syndrome - sporadic mental retardation Male 15492925, Weaving et al (2004) cp1
c.183delT p.Met63Cysfs*13 Rett syndrome - atypical Female 15492925, Weaving et al (2004) cp2
c.183delT p.Met63Cysfs*13 Not Rett syndrome - autism only Female 15492925, Weaving et al (2004) cp3

Displaying a total number of 3 proband entries matching this variant.