CDKL5 Variant

Variant ID: cm239

Systematic name: c.[=/518C>A]

Protein name: p.[=/Ala173Asp]

Alternate name(s): p.[=/A173D]

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant


First reference: Directly submitted

Comments: mosaic mutation (in 46,XY male)

Variant last updated on: 2015-02-26 03:22:52

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[=/518C>A] p.[=/Ala173Asp] Rett syndrome - Rett-like male Male Directly submitted cp491

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