CDKL5 Proband Entry
Entry ID: cp200
Systematic name: c.163_166delGAAA
Protein name: p.Glu55Argfs*20
Alternate name(s): p.E55fs
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early onset epileptic encephalopathy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: direct, CDKL5
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608433
Source: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792
Publication ID: D
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.163_166delGAAA | p.Glu55Argfs*20 | Rett syndrome - early seizure | Female | 15689447 Scala et al (2005) | cp19 |
Displaying a total number of 1 proband entries.