Variant information


Systematic Name
(NM_004992.3:)
CDKL5: c.119C>T
Protein name
(NP_004983)
CDKL5: p.A40V
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type missense
Domain CDKL5
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 CDKL5: c.119C>T CDKL5: p.A40V Female Not Rett synd. 6582 ::: View details