CDKL5 Proband Entry
Entry ID: cp469
Systematic name: c.549dupA
Protein name: p.Leu184Thrfs*22
Alternate name(s): p.L184fs
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
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:
Source: Directly submitted
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.549dupA | p.Leu184Thrfs*22 | Not Rett syndrome - early-onset seizures | Female | 23828526 Ermel et al (2013) | cp420 |
Displaying a total number of 1 proband entries.