CDKL5 Proband Entry
Entry ID: cp398
Systematic name: c.2714-47C>T
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: regulatory C-terminal
Pathogenicity class: variant of uncertain significance
Gender: Female
Phenotype: Rett syndrome - not certain
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, MECP2 negative, CDKL5 Ex1-22
Source of DNA: not stated
Familial testing: No
Familial X-inactivation:
Control screening: not found in 200/200 chromosomes
dbSNP ID:
Source: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35
Comments:
Entry last updated on: 2018-06-05 13:45:42
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