CDKL5 Variant



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Variant ID: cm98

Systematic name: c.978-23T>C

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: not specified

Pathogenicity class: benign variant

dbSNP ID: rs267608555

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.978-23T>C p.= Not Rett syndrome - neonatal seizures, severe epilepsy and mental retardation Male 20397747, White et al (2010) cp190
c.978-23T>C p.= Unaffected - unaffected family member Female 20397747, White et al (2010) cp191

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