CDKL5 Variant



   CSV explantation text


Variant ID: cm230

Systematic name: c.199C>T

Protein name: p.Leu67Phe

Alternate name(s): p.L67F

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: variant of uncertain significance

dbSNP ID: rs267608437

First reference: Directly submitted

Comments: no parental testing done, in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, Polyphen2 = probably damaging, AlignGVGD = C15 (likely 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.199C>T p.Leu67Phe Not known Female Directly submitted cp468

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