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