CDKL5 Proband Entry
Entry ID: cp280
Systematic name: c.607G>T
Protein name: p.Glu203*
Alternate name(s): p.E203X
Mutation type: nonsense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - early-onset seizures
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: rs267608505
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/98
Comments:
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.