CDKL5 Variant
Variant ID: cm229
Systematic name: c.1954C>T
Protein name: p.Gln652*
Alternate name(s): p.Q652X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608647
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.1954C>T | p.Gln652* | Not known | Female | Directly submitted | cp467 |
Displaying a total number of 1 proband entries matching this variant.