CDKL5 Proband Entry



Entry ID: cp346

Systematic name: c.2046+1G>A

Protein name: p.?

Alternate name(s): intronic variation

Mutation type: splicing variant

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early-onset seizure

Other mutation:

X-inactivation results: Yes - 63:37

Chromosomal abnormality: Not known

Method of testing: direct, MECP2-negative, including MLPA

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Zhang, Z., Bao, X., Zhang, J., Zhao, Y., Cao, G., Pan, H., Zhang, J., Wei, L., Wu, X. (2012) Molecular characteristics of Chinese patients with Rett syndrome. European Journal of Medical Genetics 55:677-681. Pubmed ID: 22982301

Publication ID:

Comments: X-chromosome inactivation results from Zhao et al 2014. PMID: 24564546

Entry last updated on: 2014-10-13 02:26:42

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