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
dbSNP ID:
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.