CDKL5 Variant



   CSV explantation text


Variant ID: cm138

Systematic name: c.1400A>C

Protein name: p.His467Pro

Alternate name(s): p.H467P

Mutation type: missense

Domain: not specified

Pathogenicity class: variant of uncertain significance

dbSNP ID: rs267608631

First reference: Liang, J.-S., Shimojima, K., Takayama, R., Natsume, J., Shichiji, M., Hirasawa, K., Kimai, K., Okanishi, T., Mizuno, S., Okumura, A., Sugawara, M., Ito, T., Ikeda, H., Takahashi, Y., Oguni, H., Imai, K., Osawa, M., Yamamoto, T. (2011) CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 52:1835-1842. Pubmed ID: 21770923

Comments: de novo, but a nonsense mutation also found in same patient; in silico predictions: SIFT = deleterious, MutationTaster = disease causing, PolyPhen 2 = probably damaging, AlignGVGD = pathogenic (C65)

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.[1238C>G(;)1400A>C] p.[Ser413*(;)His467Pro] Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp292

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