CDKL5 Proband Entry
Entry ID: cp111
Systematic name: c.380A>G
Protein name: p.His127Arg
Alternate name(s): p.H127R
Mutation type: missense
Domain: serine-threonine kinase site
Pathogenicity class: likely 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: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608468
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 6
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.380A>G | p.His127Arg | Not known | Female | Directly submitted | cp473 |
c.380A>G | p.His127Arg | Not Rett syndrome - early onset seizures | Female | Directly submitted | cp483 |
Displaying a total number of 2 proband entries.