Variant information


Systematic Name c.[=/473C>T];[473C>T]
Protein name p.[=/Thr158Met];[Thr158Met]
Mutation type missense
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood and fibroblast
Detection direct
Extent coding region
Number of chromosomes checked
Carrier status checked Yes
Carrier result de novo
Other mutations NK
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Homozygosity for MECP2 gene in a girl with classical Rett syndrome:Karall, D., Haberlandt, E., Scholl-Bürgi, S., Baumgartner, S., Naudó, M., Martorell, L.:European Journal of Medical Genetics: 17881312

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[=/473C>T];[473C>T] p.[=/Thr158Met];[Thr158Met] missense MBD Mutation associated with disease Female Rett syndrome-classical 3082 Homozygosity for MECP2 gene in a girl with classical Rett syndrome:Karall, D., Haberlandt, E., Scholl-Bürgi, S., Baumgartner, S., Naudó, M., Martorell, L.:European Journal of Medical Genetics: 17881312