CDKL5 Variant

Variant ID: cm145
Systematic name: c.1455_1460delGGCCAA
Protein name: p.Ala486_Lys487del
Alternate name(s): p.A486_K487del
Mutation type: in-frame insertion and/or deletion
Domain: not specified
Pathogenicity class: likely benign variant
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 unaffected female

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.1455_1460delGGCCAA p.Ala486_Lys487del Not Rett syndrome - infantile-onset seizures Female 22867051, Maortua et al (2012) cp302
c.1455_1460delGGCCAA p.Ala486_Lys487del Unaffected - unaffected family member Female 22867051, Maortua et al (2012) cp303

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