CDKL5 Variant



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Variant ID: cm212

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: 2014-10-31 04:29:20

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.