CDKL5 Proband Entry

Entry ID: cp494

Systematic name: c.[2372A>C];[2372A>C]

Protein name: p.[Gln791Pro];[Gln791Pro]

Alternate name(s): p.[Q791P];[Q791P]

Mutation type: missense

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - early-onset seizures

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: rs35478150

Source: Directly submitted


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.