CDKL5 Variant



Variant ID: cm246

Systematic name: c.1684A>G

Protein name: p.Thr562Ala

Alternate name(s): p.T562A

Mutation type: missense

Domain:

Pathogenicity class: variant of uncertain significance

dbSNP ID:

First reference: Directly submitted

Comments:

Variant last updated on: 2016-10-25 11:10:39

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1684A>G p.Thr562Ala Not Rett syndrome - infantile spasms, developmental delay ( fine motor, speech), acquired microcephaly Female Directly submitted cp499

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