CDKL5 Proband Entry



Entry ID: cp489

Systematic name: c.65G>T

Protein name: p.Gly22Val

Alternate name(s): p.G22V

Mutation type: missense

Domain: ATP binding region

Pathogenicity class: variant of uncertain significance

Gender: Female

Phenotype: Not Rett syndrome - intractible epilepsy, severe delay

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, exons 2-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Directly submitted

Comments:

Entry last updated on: 2015-02-26 03:25:13

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