CDKL5 Proband Entry
Entry ID: cp435
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
Gender: Female
Phenotype: Rett syndrome - atypical
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: direct, exons 2-21
Source of DNA: not stated
Familial testing: inherited from healthy father
Familial X-inactivation:
Control screening: No
dbSNP ID: rs200236257
Source: 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
Publication ID:
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.2830C>A | p.Pro944Thr | Not known - unaffected family member | Male | 23756444 Diebold et al (2014) | cp436 |
Displaying a total number of 1 proband entries.