Variant information

Systematic Name
Protein name
intronic variation
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Intronic variation
Domain Intronic
Pathogenicity Polymorphism not causing disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.377+11G>C intronic variation Female Rett syndrome-Not certain 208 Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 View details