CDKL5 Proband Entry



Entry ID: cp505

Systematic name: c.1757_1758delCT

Protein name: p.Ser586Cysfs*24

Alternate name(s): p.Ser586Cysfs*24

Mutation type: frameshift insertion and/or deletion

Domain:

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: HRM, sequencing

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: () . :. Pubmed ID: 27187038

Publication ID:

Comments:

Entry last updated on: 2017-04-28 12:04:22

Similar entries in the proband database

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