Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1430G>C p.Ser477Thr Male Not Rett synd. 394 ::: View details
2 c.1430G>C p.Ser477Thr Female Not Rett synd. 395 ::: View details
3 c.1430G>C p.Ser477Thr Unknown Not Rett synd. 2658 Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation:Lesca, G., Bernard, V., Bozon, M., Touraine, R., Gérard, D., Edery, P., Calender, A.:European Journal of Medical Genetics: 17383248 View details