CDKL5 Proband Entry
Entry ID: cp109
Systematic name: c.-162-?_99+?del
Protein name: p.Met1?
Alternate name(s): p.M1? (deletion of exons 2 and 3)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - not specified
Other mutation:
X-inactivation results: Not known
Chromosomal abnormality: Not known
Method of testing: DHPLC, MECP2, CDKL5
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Russo, S., Marchi, M., Cogliati, F., Bonati, M.T., Pintaudi, M.,Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L. (2009) Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10:241-250. Pubmed ID: 19241098
Publication ID: patient 4
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.-162-?_99+?del | p.Met1? | Not Rett syndrome - early-onset seizures | Female | 19471977 Erez et al (2009) | cp268 |
Displaying a total number of 1 proband entries.