CDKL5 Proband Entry
Entry ID: cp375
Systematic name: c.1341delC
Protein name: p.Phe447Leufs*46
Alternate name(s): p.F447Lfs*46
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - atypical, early onset seizures
Other mutation:
X-inactivation results: Yes - 61:39
Chromosomal abnormality: No
Method of testing: direct, MECP2 negative, CDKL5 Ex1-22
Source of DNA: not stated
Familial testing: de novo
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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