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.