CDKL5 Proband Entry
Entry ID: cp31
Systematic name: c.215T>A
Protein name: p.Ile72Asn
Alternate name(s): p.I72N
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - early seizure
Other mutation:
X-inactivation results: Yes - 74:26
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 1-21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: not found in 184/184 chromosomes
dbSNP ID: rs62641235
Source: Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Bieber Nielsen, J., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P.E., Wright, M.J., Pilz, D.T., Lazarou, L., Cooper, D.N., Sampson, J.R., Butler, R., Whatley, S.D., Clarke, A.J. (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13:1113-1120. Pubmed ID: 16015284
Publication ID: 3
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
There are no other entries in the database with a similar genotype.