CDKL5 Proband Entry



Entry ID: cp112

Systematic name: c.2376+5G>A

Protein name: p.?

Alternate name(s): intronic variation

Mutation type: splicing variant

Domain: regulatory C-terminal

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Rett syndrome - not specified

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: DHPLC, MECP2, CDKL5

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 100/100 controls

dbSNP ID: rs267608657

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: patient 7

Comments:

Entry last updated on: 2014-03-13 06:07:05

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