CDKL5 Variant
Variant ID: cm147
Systematic name: c.-426C>G
Protein name: p.=
Alternate name(s): 5'UTR variation
Mutation type: 5'UTR variation
Domain: 5'UTR
Pathogenicity class: benign variant
dbSNP ID: rs184407021
First reference: Maortua, H., Martinez-Bouzas, C., Calvo, M.-T., Domingo, M.-R., Ramos, F., Garcia-Ribes, A., Martinez, M.-J., Lopez-Ariztegui, M.-A., Puente, N., Rubio, I., Tejada, M.-I. (2012) CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC Medical Genetics 13:68. Pubmed ID: 22867051
Comments: found in normal population
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.-426C>G | p.= | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051, Maortua et al (2012) | cp312 |
c.-426C>G | p.= | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp313 |
c.-426C>G | p.= | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp314 |
c.-426C>G | p.= | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp315 |
c.-426C>G | p.= | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp316 |
c.-426C>G | p.= | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp317 |
Displaying a total number of 6 proband entries matching this variant.