CDKL5 Variant
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
Comments:
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.