Variant information



Systematic Name CDKL5: c.119C>T
Protein name CDKL5: p.A40V
Mutation type missense
Domain CDKL5
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 CDKL5: c.119C>T CDKL5: p.A40V missense CDKL5 Mutation associated with disease Female Not Rett synd. 6582