CDKL5 Proband Entry



Entry ID: cp349

Systematic name: c.214_216del

Protein name: p.Ile72del

Alternate name(s): p.I72del

Mutation type: in-frame insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Not known

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, MECP2 negative

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:14:38

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