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: 2018-06-05 14:40:30
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.