CDKL5 Variant

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Variant ID: cm36
Systematic name: c.539C>T
Protein name: p.Pro180Leu
Alternate name(s): p.P180L
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID: rs61749704

First reference: Archer, H.L., Evans, J., Edwards, S., Colley, J., Newbury-Ecob, R., O'Callaghan, F., Huyton, M., O'Regan, M., Tolmie, J., Sampson, J., Clarke, A., Osborne, J. (2006) CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet 43:729-734. Pubmed ID: 16611748

Comments: mutation at the highly conserved catalytic domain; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

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.539C>T p.Pro180Leu Not Rett syndrome - epileptic encephalopathy Female 16611748, Archer et al (2006) cp49

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