CDKL5 Variant
Variant ID: cm146
Systematic name: c.2389G>A
Protein name: p.Asp797Asn
Alternate name(s): p.D797N
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: benign variant
dbSNP ID:
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 male and normal population, In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = possibly damaging, AlignGVGD = benign (C0)
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.2389G>A | p.Asp797Asn | Not Rett syndrome - epilepsy, Rett-like | Female | 22867051, Maortua et al (2012) | cp304 |
c.2389G>A | p.Asp797Asn | Unaffected - unaffected family member | Male | 22867051, Maortua et al (2012) | cp305 |
c.2389G>A | p.Asp797Asn | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp306 |
c.2389G>A | p.Asp797Asn | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp307 |
c.2389G>A | p.Asp797Asn | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp308 |
c.2389G>A | p.Asp797Asn | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp309 |
c.2389G>A | p.Asp797Asn | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp310 |
c.2389G>A | p.Asp797Asn | Unaffected - non-RTT control | Female | 22867051, Maortua et al (2012) | cp311 |
c.2389G>A | p.Asp797Asn | Rett syndrome - not certain | Female | Roche Martinez et al (2012) | cp396 |
c.2389G>A | p.Asp797Asn | Unaffected - non-Rett syndrome control | Female | Roche Martinez et al (2012) | cp397 |
Displaying a total number of 10 proband entries matching this variant.