CDKL5 Variant



Variant ID: cm95

Systematic name: c.554+11G>A

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: benign variant

dbSNP ID: rs267608498

First reference: White, R., Ho, G., Schmidt, S., Scheffer, I.E., Fischer, A., Yendle, S.C., Bienvenu, T., Nectoux, J., Ellaway, C.J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, B., Kalra, V., Fullston, T., Gecz, J., Cox, T.C., Christodoulou, J. (2010) Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 13:168-178. Pubmed ID: 20397747

Comments:

Variant last updated on: 2014-03-13 05:45:38

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.554+11G>A p.= Not Rett syndrome - epileptic encephalopathy Female 20397747, White et al (2010) cp144
c.554+11G>A p.= Unaffected - unaffected family member Male 20397747, White et al (2010) cp145
c.554+11G>A p.= Rett syndrome - atypical Female Directly submitted cp472

Displaying a total number of 3 proband entries matching this variant.