CDKL5 Proband Entry



Entry ID: cp306

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

Gender: Female

Phenotype: Not known - non-RTT control

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: CSGE, MECP2 negative

Source of DNA: not certain

Familial testing: No

Familial X-inactivation:

Control screening: found in 6/200 (3%) of chromosomes

dbSNP ID:

Source: 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

Publication ID:

Comments:

Entry last updated on: 2014-05-09 06:12:32

Similar 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 Not known - unaffected family member Male 22867051 Maortua et al (2012) cp305
c.2389G>A p.Asp797Asn Not known - non-RTT control Female 22867051 Maortua et al (2012) cp307
c.2389G>A p.Asp797Asn Not known - non-RTT control Female 22867051 Maortua et al (2012) cp308
c.2389G>A p.Asp797Asn Not known - non-RTT control Female 22867051 Maortua et al (2012) cp309
c.2389G>A p.Asp797Asn Not known - non-RTT control Female 22867051 Maortua et al (2012) cp310
c.2389G>A p.Asp797Asn Not known - 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 Not known - non-Rett syndrome control Female Roche Martinez et al (2012) cp397

Displaying a total number of 9 proband entries.