CDKL5 Proband Entry



Entry ID: cp56

Systematic name: c.216T>A

Protein name: p.=

Alternate name(s): p.I72I

Mutation type: silent

Domain: catalytic domain

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: DHPLC, not stated

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: not found in 100/100 controls

dbSNP ID: rs267608439

Source: Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R. (2007) MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. J Hum Genet 52:38-47. Pubmed ID: 17089071

Publication ID:

Comments:

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

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