CDKL5 Variant
Systematic name: c.2377-31T>C
Protein name: p.=
Alternate name(s): intronic variation
Mutation type: intronic variant
Domain: regulatory C-terminal
Pathogenicity class: benign variant
dbSNP ID: rs267608658
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: 2018-06-05 14:40:30
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.2377-31T>C | p.= | Not Rett syndrome - epileptic encephalopathy | Female | 20397747, White et al (2010) | cp188 |
c.2377-31T>C | p.= | Unaffected - unaffected family member | Female | 20397747, White et al (2010) | cp189 |
c.2377-31T>C | p.= | Not Rett syndrome - epileptic encephalopathy | Unknown | 23064044, Raymond et al (2013) | cp373 |
c.2377-31T>C | p.= | Unaffected - unaffected family member | Female | 23064044, Raymond et al (2013) | cp374 |
Displaying a total number of 4 proband entries matching this variant.