CDKL5 Proband Entry
Entry ID: cp466
Systematic name: c.1675C>T
Protein name: p.Arg559*
Alternate name(s): p.R559X
Mutation type: nonsense
Domain: not specified
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: rs267608395
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.[1675C>T];[=] | p.[Arg559*];[=] | Rett syndrome - early-onset seizures | Male | 19161156 Sartori et al (2009) | cp137 |
c.1675C>T | p.Arg559* | Not Rett syndrome - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp293 |
Displaying a total number of 2 proband entries.