Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense
Domain TRD
Pathogenicity Unknown

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.674C>T p.Pro225Leu Male Rett syndrome-Male variant 1659 Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2):Moog, Ute, Smeets, Eric E. J., Van Roozendaal, Kees E. P., Schoenmakers, Sam, Herbergs, Jos, Schoonbrood-Lessen, Anneke M. J., Schrander-Stumpel, Connie T. R. M.:European Journal of Paediatric Neurology: 12615169 View details
2 c.674C>T p.Pro225Leu Female Rett syndrome-Classical 2429 Rett syndrome in Spain: mutation analysis and clinical correlations:Monros, E., Armstrong J., Aibar, E., Poo, P., Canůs, I., Pineda, M.:Brain and Development: 11738885 View details