CDKL5 Proband Entry
Entry ID: cp475
Systematic name: c.2564C>G
Protein name: p.Ser855*
Alternate name(s): p.S855X
Mutation type: nonsense
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early onset seizures
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.2564C>G | p.Ser855* | Not Rett syndrome - infantile spasms | Female | 23708187 Carvill et al (2013) | cp425 |
Displaying a total number of 1 proband entries.