Variant information

Systematic Name
Protein name
intronic variation
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Intronic variation
Domain Intronic
Pathogenicity Unknown

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.377+2T>G intronic variation Unknown Rett syndrome-Not certain 1356 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 View details