CDKL5 Variant

Variant ID: cm43
Systematic name: c.216T>A
Protein name: p.=
Alternate name(s): p.I72I
Mutation type: silent
Domain: catalytic domain
Pathogenicity class: benign variant
dbSNP ID: rs267608439

First reference: 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


Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.216T>A p.= Rett syndrome - atypical Female 17089071, Li et al (2007) cp56

Displaying a total number of 1 proband entries matching this variant.