CDKL5 Proband Entry



Entry ID: cp499

Systematic name: c.1684A>G

Protein name: p.Thr562Ala

Alternate name(s): p.T562A

Mutation type: missense

Domain:

Pathogenicity class: variant of uncertain significance

Gender: Female

Phenotype: Not Rett syndrome - infantile spasms, developmental delay ( fine motor, speech), acquired microcephaly

Other mutation: VOUS: NM_000744 c.1550C>T p.S517L

X-inactivation results: Not known

Chromosomal abnormality: No

Method of testing: PCR with NGS

Source of DNA: Blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Directly submitted

Comments: Submitted by probands parent.

Entry last updated on: 2016-10-25 11:16:21

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