CDKL5 Proband Entry



Entry ID: cp396

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: Rett syndrome - not certain

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, MECP2 negative, CDKL5 Ex1-22

Source of DNA: not stated

Familial testing: No

Familial X-inactivation:

Control screening: found in 1/200 (0.5%) of chromosomes

dbSNP ID:

Source: Roche Martinez, A., Armstrong, J., Gerotina, E., Fons, C., Campistol, J., Pineda, M. (2012) CDKL5 in different atypical Rett syndrome variants: description of the first eight patients from Spain. Journal of Pediatric Epilepsy 1:27-35

Comments:

Entry last updated on: 2014-05-15 05:58:00

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) cp306
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 Not known - non-Rett syndrome control Female Roche Martinez et al (2012) cp397

Displaying a total number of 9 proband entries.