CDKL5 Proband Entry
Entry ID: cp34
Systematic name: c.1400A>G
Protein name: p.His467Arg
Alternate name(s): p.H467R
Mutation type: missense
Domain: not specified
Pathogenicity class: likely benign variant
Gender: Female
Phenotype: Rett syndrome - not certain
Other mutation:
X-inactivation results: Yes - 58:42
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 1-21
Source of DNA: blood
Familial testing: in unaffected mother
Familial X-inactivation: carrier mother with balanced X-inactivation
Control screening: No
dbSNP ID:
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:
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.1400A>G | p.His467Arg | Not known - unaffected family member | Female | 16015284 Evans et al (2005) | cp35 |
Displaying a total number of 1 proband entries.