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: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.