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: 2018-06-05 14:40:30

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.