CDKL5 Proband Entry
Entry ID: cp279
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: Rett syndrome - not certain
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, MECP2 mutation negative
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B. (2011) Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. Journal of Human Genetics 56:183-187. Pubmed ID: 21160487
Publication ID: R/157
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.= | Not Rett syndrome - developmental delay and seizures | Female | Directly submitted | cp479 |
Displaying a total number of 1 proband entries.