CDKL5 Variant



   CSV explantation text


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: 2015-02-26 03:22:52

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.