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: 2014-03-13 06:16:41

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