CDKL5 Proband Entry
Entry ID: cp357
Systematic name: c.506_507delCA
Protein name: p.Thr169Argfs*36
Alternate name(s): p.T169RfsX36
Mutation type: frameshift insertion and/or deletion
Domain: TEY phosphorylation site
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - early-onset seizures
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: HRM, DHPLC, MECP2 negative
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
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: 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.506_507delCA | p.Thr169Argfs*36 | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp559 |
Displaying a total number of 1 proband entries.
Entry ID: cp357
Systematic name: c.506_507delCA
Protein name: p.Thr168Argfs*36
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: TEY phosphorylation site
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - early-onset seizures
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Not known
Method of testing: HRM, DHPLC, MECP2 negative
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
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: 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.506_507delCA | p.Thr169Argfs*36 | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp559 |
Displaying a total number of 1 proband entries.