CDKL5 Proband Entry
Entry ID: cp579
Systematic name: c.1942C>T
Protein name: p.Gln648*
Alternate name(s): p.G648X
Mutation type: nonsense
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Male
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: maternal
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: N (2016) New perspective in diagnostics of mitochondrial disorders: two years experience with whole-exome sequencing at a national paediatric centre. J Transl Med 14(1):174. Pubmed ID: 27290639
Publication ID: Patient ID 65
Comments:
Entry last updated on: 2019-10-10 11:03:23
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There are no other entries in the database with a similar genotype.