CDKL5 Variant



Variant ID: cm127

Systematic name: c.[3003C>T;3084G>A]

Protein name: p.=

Alternate name(s): p.[H1001H;T1028T]

Mutation type: combination/multiple mutations

Domain: regulatory C-terminal

Pathogenicity class: benign variant

dbSNP ID:

First reference: Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B. (2011) Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. Journal of Human Genetics 56:183-187. Pubmed ID: 21160487

Comments:

Variant last updated on: 2014-03-13 05:51:47

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[3003C>T;3084G>A] p.= Rett syndrome - not certain Female 21160487, Hadzsiev et al (2011) cp279
c.[3003C>T;3084G>A] p.= Not Rett syndrome - developmental delay and seizures Female Directly submitted cp479

Displaying a total number of 2 proband entries matching this variant.