CDKL5 Proband Entry
Entry ID: cp191
Systematic name: c.978-23T>C
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: not specified
Pathogenicity class: benign variant
Gender: Female
Phenotype: Not known - unaffected family member
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: direct, exons 2-21
Source of DNA: blood
Familial testing: found in son with seizures and mental retardation
Familial X-inactivation:
Control screening: not found in 306/306 chromosomes
dbSNP ID: rs267608555
Source: White, R., Ho, G., Schmidt, S., Scheffer, I.E., Fischer, A., Yendle, S.C., Bienvenu, T., Nectoux, J., Ellaway, C.J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, B., Kalra, V., Fullston, T., Gecz, J., Cox, T.C., Christodoulou, J. (2010) Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 13:168-178. Pubmed ID: 20397747
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.978-23T>C | p.= | Not Rett syndrome - neonatal seizures, severe epilepsy and mental retardation | Male | 20397747 White et al (2010) | cp190 |
Displaying a total number of 1 proband entries.