CDKL5 Variant



Variant ID: cm129

Systematic name: c.1708G>T

Protein name: p.Glu570*

Alternate name(s): p.E570X

Mutation type: nonsense

Domain: not specified

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608644

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.1708G>T p.Glu570* Rett syndrome - early-onset seizures Female 21160487, Hadzsiev et al (2011) cp281

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