CDKL5 Proband Entry



Entry ID: cp496

Systematic name: c.812T>C

Protein name: p.Leu271Pro

Alternate name(s): p.L271P

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: not stated, not known

Source of DNA: not stated

Familial testing: not found in father or mother

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Moseley, B.D., Dhamija, R., Wirrell, E.C., Nickels, K.C. (2012) Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatric Neurology 46:101-105. Pubmed ID: 22264704

Publication ID: F

Comments:

Entry last updated on: 2015-02-26 03:25:13

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There are no other entries in the database with a similar genotype.