CDKL5 Proband Entry
Entry ID: cp479
Systematic name: c.[3003C>T;3084G>A]
Protein name: p.=
Alternate name(s): p.[H1001H;T1028T]
Mutation type: combination/multiple mutations
Domain: regulatory C-terminal
Pathogenicity class: benign variant
Gender: Female
Phenotype: Not Rett syndrome - developmental delay and seizures
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, Exons 2-21
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.[3003C>T;3084G>A] | p.= | Rett syndrome - not certain | Female | 21160487 Hadzsiev et al (2011) | cp279 |
Displaying a total number of 1 proband entries.