CDKL5 Variant
Systematic name: c.2200A>G
Protein name: p.Thr734Ala
Alternate name(s): p.T734A
Mutation type: missense
Domain: not specified
Pathogenicity class: variant of uncertain significance
dbSNP ID: rs55803460
First reference: Das, D.K., Mehta, B., Menon, S.T., Raha, S., Udani, V. (2013) Novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromol Med 15:218-225. Pubmed ID: 23242510
Comments: Listed on ESP6500 with an allele frequency of 0.01%; found in heterozygous female, de novo inheritance; in silico predictions: alignGVGD, SIFT, MutationTaster, Polyphen2 all benign
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.2200A>G | p.Thr734Ala | Rett syndrome - atypical | Female | 23242510, Das et al (2013) | cp441 |
Displaying a total number of 1 proband entries matching this variant.