Variant information



Systematic Name MECP2_e1: c.5C>T
Protein name MeCP2_e1: p.A2V
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.5C>T MeCP2_e1: p.A2V missense N-term Unknown Female Rett syndrome-classical 3864
2 MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense N-term Unknown Female Rett syndrome-not certain 3867
3 MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Female Rett syndrome-classical 6623
4 MECP2_e1: c.5C>T MeCP2_e1: p.A2V missense exon 1 Mutation associated with disease Female Not Rett synd. 6622