CDKL5 Proband Entry



Entry ID: cp129

Systematic name: c.*15C>T

Protein name: p.=

Alternate name(s): 3'UTR variation

Mutation type: 3'UTR variation

Domain: 3'UTR

Pathogenicity class: variant of uncertain significance

Gender: Unknown

Phenotype: Not known

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: DHPLC, MECP2, CDKL5

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608394

Source: Russo, S., Marchi, M., Cogliati, F., Bonati, M.T., Pintaudi, M.,Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L. (2009) Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10:241-250. Pubmed ID: 19241098

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:07:34

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