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: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.