Variant information

Systematic Name
Protein name
intronic variation
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type Intronic variation
Domain Intronic
Pathogenicity Mutation associated with disease

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.378-2A>C intronic variation Unknown Rett syndrome-Not certain 253 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, CÚcile, Jonveaux, Philippe:Human genetics: 11214906 View details
2 c.378-2A>C intronic variation Female Not Known 1677 :Friez, Michael:: View details
3 c.378-2A>C intronic variation Female Rett syndrome-classical 6603 ::: View details