CDKL5 Proband Entry
Entry ID: cp373
Systematic name: c.2377-31T>C
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: regulatory C-terminal
Pathogenicity class: benign variant
Gender: Unknown
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: Not known
Method of testing: HRM, DHPLC, MECP2 negative
Source of DNA: blood
Familial testing: inherited from unaffected mother
Familial X-inactivation: carrier mother random XCI
Control screening: No
dbSNP ID: rs267608658
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.2377-31T>C | p.= | Not Rett syndrome - epileptic encephalopathy | Female | 20397747 White et al (2010) | cp188 |
c.2377-31T>C | p.= | Not known - unaffected family member | Female | 20397747 White et al (2010) | cp189 |
c.2377-31T>C | p.= | Not known - unaffected family member | Female | 23064044 Raymond et al (2013) | cp374 |
Displaying a total number of 3 proband entries.