CDKL5 Variant
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.