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: 2014-10-31 04:40:12

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.