CDKL5 Proband Entry



Entry ID: cp486

Systematic name: c.1612A>G

Protein name: p.Thr538Ala

Alternate name(s): p.T538A

Mutation type: missense

Domain: not specified

Pathogenicity class: variant of uncertain significance

Gender: Male

Phenotype: Rett syndrome - male variant

Other mutation:

X-inactivation results: Not applicable

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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