CDKL5 Variant
Systematic name: c.2830C>A
Protein name: p.Pro944Thr
Alternate name(s): p.P944T
Mutation type: missense
Domain: regulatory C-terminal
Pathogenicity class: likely benign variant
dbSNP ID: rs200236257
First reference: Diebold, B., Delepine, C., Gataullina, S., Delahaye, A., Nectoux, J., Bienvenu, T. (2014) Mutations in the C-terminus of CDKL5: proceed with caution. European Journal of Human Genetics 22:270-272. Pubmed ID: 23756444
Comments: identified in unaffected male, located in exon 20, unlikely to be pathogenic
Variant last updated on: 2018-06-05 14:40:30
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.2830C>A | p.Pro944Thr | Rett syndrome - atypical | Female | 23756444, Diebold et al (2014) | cp435 |
c.2830C>A | p.Pro944Thr | Unaffected - unaffected family member | Male | 23756444, Diebold et al (2014) | cp436 |
Displaying a total number of 2 proband entries matching this variant.