CDKL5 Proband Entry



Entry ID: cp567

Systematic name: c.64+2T>C

Protein name: p.?

Alternate name(s):

Mutation type: intronic variant

Domain: ATP binding region

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Fehr S,Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822

Publication ID:

Comments:

Entry last updated on: 2018-10-22 14:41:56

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There are no other entries in the database with a similar genotype.