CDKL5 Variant



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Variant ID: cm237

Systematic name: c.65G>T

Protein name: p.Gly22Val

Alternate name(s): p.G22V

Mutation type: missense

Domain: ATP binding region

Pathogenicity class: variant of uncertain significance

dbSNP ID:

First reference: Directly submitted

Comments: no parental testing done, in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, Polyphen2 = probably damaging, AlignGVGD = C0 (benign)

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.65G>T p.Gly22Val Not Rett syndrome - intractible epilepsy, severe delay Female Directly submitted cp489

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