Variant information



Systematic Name c.27-2A>G
Protein name intronic variation
Mutation type Intronic variation
Domain Intronic
Pathogenicity Mutation associated with disease

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id
1 c.27-2A>G intronic variation Intronic variation Intronic Mutation associated with disease Female Rett syndrome-Not certain 1859
2 c.27-2A>G intronic variation intronic variation N-term Mutation associated with disease Female Rett syndrome-atypical 2974
3 c.27-2A>G intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 6352
4 c.27-2A>G intronic variation intronic variation intronic Mutation associated with disease Female Rett syndrome-classical 6351