CDKL5 Proband Entry



Entry ID: cp467

Systematic name: c.1954C>T

Protein name: p.Gln652*

Alternate name(s): p.Q652X

Mutation type: nonsense

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not known

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, not stated

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608647

Source: Directly submitted

Comments:

Entry last updated on: 2015-02-26 03:24:09

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