CDKL5 Proband Entry

Entry ID: cp502

Systematic name: c.637G>A

Protein name: p.Gly213Arg

Alternate name(s): p.Gly213Arg

Mutation type: missense


Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early-onset seizure

Other mutation:

X-inactivation results: Yes - 74:26

Chromosomal abnormality: Not known - 200 controls (300 chromosomes)

Method of testing: HRM, sequencing

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No


Source: () . :. Pubmed ID: 27187038

Publication ID:


Entry last updated on: 2018-06-26 10:12:46

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There are no other entries in the database with a similar genotype.