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: 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.