CDKL5 Proband Entry
Entry ID: cp478
Systematic name: c.620G>A
Protein name: p.Gly207Glu
Alternate name(s): p.G207E
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - epilepsy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, Exons 2-21
Source of DNA: blood
Familial testing: not found in father or mother
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.620G>A | p.Gly207Glu | Not Rett syndrome - epileptic encephalopathy | Female | 23708187 Carvill et al (2013) | cp428 |
Displaying a total number of 1 proband entries.