CDKL5 Proband Entry
Entry ID: cp407
Systematic name: c.283-3_290del11
Protein name: p.Asn95Ilefs*2
Alternate name(s): p.N95IfsX2
Mutation type: frameshift insertion and/or deletion
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Rett syndrome - atypical
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: not stated, not known
Source of DNA: not stated
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Hagebeuk, E.E.O., van den Bossche, R.A.S., de Weerd, A.W. (2013) Respiratory and sleep disturbances in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. Developmental Medicine & Child Neurology 55:480-484. Pubmed ID: 23151060
Publication ID: 3
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.283-3_290del11 | p.Asn95Ilefs*2 | Not Rett syndrome - early-onset epilepsy with severe intellectual disability | Female | 21765152 Stalpers et al (2012) | cp333 |
Displaying a total number of 1 proband entries.