Variant information



Systematic Name MECP2_e1: c.1A>T
Protein name MeCP2_e1: p.M1?
Mutation type missense
Domain exon 1
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 MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense N-term Unknown Female Rett syndrome-classical 3865
2 MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense exon 1 Mutation associated with disease Female Rett syndrome-classical 6625