CDKL5 Proband Entry
Entry ID: cp417
Systematic name: c.2494C>T
Protein name: p.Gln832*
Alternate name(s): p.Q832X
Mutation type: nonsense
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - ISSX
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: whole exome seq, whole exome at 40x
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs17857094
Source: Veeramah, K.R., Johnstone, L., Karafet, T.M., Wolf, D., Sprissler, R., Salogiannis, J., Barth-Maron, A., Greenberg, M.E., Stuhlmann, T., Weinert, S., Jentsch, T.J., Pazzi, M., Restifo, L.L., Talwar, D., Erickson, R.P., Hammer, M.F. (2013) Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 54:1270-1281. Pubmed ID: 23647072
Publication ID: A
Comments:
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.