CDKL5 Proband Entry
Entry ID: cp584
Systematic name: c.530A>G
Protein name: p.Tyr177Cys
Alternate name(s):
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: variant of uncertain significance
Gender: Female
Phenotype: Not Rett syndrome
Other mutation:
X-inactivation results: Yes - random X inactivation
Chromosomal abnormality: Not known
Method of testing: Not stated
Source of DNA:
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Christianto, A. Katayama, S. Kameshita, I. Inazu, T. (2016) A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome . Clin Chim Acta 459:132-136. Pubmed ID: 27265524
Publication ID:
Comments:
Entry last updated on: 2019-10-10 11:03:23
Similar entries in the proband database
There are no other entries in the database with a similar genotype.