CDKL5 Variant

   CSV explantation text

Variant ID: cm242
Systematic name: c.[2372A>C];[2372A>C]
Protein name: p.[Gln791Pro];[Gln791Pro]
Alternate name(s): p.[Q791P];[Q791P]
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: benign variant
dbSNP ID: rs35478150

First reference: Directly submitted

Comments: homozygosity of common p.Q791P polymorphism

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.[2372A>C];[2372A>C] p.[Gln791Pro];[Gln791Pro] Rett syndrome - early-onset seizures Female Directly submitted cp494

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