CDKL5 Proband Entry
Entry ID: cp364
Systematic name: c.1330C>T
Protein name: p.Arg444Cys
Alternate name(s): p.R444C
Mutation type: missense
Domain: not specified
Pathogenicity class: benign variant
Gender: Female
Phenotype: Not known - unaffected family member
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: Not known
Method of testing: HRM, DHPLC, MECP2 negative
Source of DNA: blood
Familial testing: also in affected child
Familial X-inactivation:
Control screening: No
dbSNP ID: rs61753977
Source: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044
Publication ID:
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.1330C>T | p.Arg444Cys | Rett syndrome - not certain | Female | 16015284 Evans et al (2005) | cp32 |
c.1330C>T | p.Arg444Cys | Not known - unaffected family member | Male | 16015284 Evans et al (2005) | cp33 |
c.1330C>T | p.Arg444Cys | Not Rett syndrome - epileptic encephalopathy | Unknown | 23064044 Raymond et al (2013) | cp363 |
Displaying a total number of 3 proband entries.