CDKL5 Proband Entry



Entry ID: cp168

Systematic name: c.2376+118T>A

Protein name: p.=

Alternate name(s): intronic variation (IVS16+118T>A)

Mutation type: intronic variant

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Male

Phenotype: Not Rett syndrome - West syndrome

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Not known

Method of testing: direct, exons 2-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs3752484

Source: 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

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:08:03

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2376+118T>A p.= Not known Unknown 16015284 Evans et al (2005) cp42
c.2376+118T>A p.= Not Rett syndrome - West syndrome Male 20397747 White et al (2010) cp167
c.2376+118T>A p.= Not Rett syndrome - West syndrome Male 20397747 White et al (2010) cp169
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp170
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp171
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp172
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp173
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp174
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp175
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp176
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp177
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp178
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp179
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp180
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp181
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp182
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp183
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp184
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp185
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp186
c.2376+118T>A p.= Rett syndrome - not certain Female 20397747 White et al (2010) cp187

Displaying a total number of 21 proband entries.