CDKL5 Proband Entry
Entry ID: cp299
Systematic name: c.2277-2A>G
Protein name: p.?
Alternate name(s): p.K760?
Mutation type: splicing variant
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - infantile-onset seizure
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: not specified, MECP2, UBE3A, SCN1A negative
Source of DNA: not certain
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Paine, S.M.L., Munot, P., Charmichael, J., Das, K., Weber, M.A., Prabhakar, P., Jacques, T.S. (2012) The neuropathological consequences of CDKL5 mutation. Neuropathology and Applied Neurobiology 38:744-747. Pubmed ID: 22812903
Publication ID:
Comments:
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.