CDKL5 Variant



Variant ID: cm2

Systematic name: c.2047-1G>A

Protein name: p.Gly683Valfs*101

Alternate name(s): p.G683fs (r.2047delG)

Mutation type: splicing variant

Domain: not specified

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608650

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: acceptor site of intron 13, activates an alternate splice site r.2047delG

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.2047-1G>A p.Gly683Valfs*101 Rett syndrome - atypical Female 15492925, Weaving et al (2004) cp4

Displaying a total number of 1 proband entries matching this variant.