CDKL5 Proband Entry



Entry ID: cp581

Systematic name: c.2152G>A

Protein name: p.Val718Met

Alternate name(s): p.V718M

Mutation type: missense

Domain: not specified

Pathogenicity class: likely pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: NGS

Source of DNA:

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608653

Source: Lilles, S. Talvik, I. Noormets, K. Vaher, U. Ounap, K. Reimand, T. Sander, V. Ilves, P. Talvik, T. (2016) CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. Neuropediatrics. 47(6):361-367. Pubmed ID: 27599155

Publication ID: patient 2

Comments:

Entry last updated on: 2019-10-10 11:03:23

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2152G>A p.Val718Met Not Rett syndrome - X-linked infantile spasm syndrome Female 18790821 Bahi-Buisson et al (2008) cp80

Displaying a total number of 1 proband entries.