CDKL5 Proband Entry
Entry ID: cp169
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: 2018-06-05 13:45:42
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) | cp168 |
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.