CDKL5 Proband Entry
Entry ID: cp19
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: Rett syndrome - early seizure
Other mutation:
X-inactivation results: Yes - 52:48
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 2-21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267608433
Source: Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, C., Longo, I., Meloni I., Giachino, D., Bruttini, M., Hayek, G., Zapella, M., Renieri, A. (2005) CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 42:103-107. Pubmed ID: 15689447
Publication ID: 1
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 | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp200 |
Displaying a total number of 1 proband entries.