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


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


Entry last updated on: 2019-10-10 11:03:23

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