Variant information

Systematic Name MECP2_e1: c.2T>C
Protein name MeCP2_e1: p.M1?
Mutation type missense
Domain N-term
Pathogenicity Mutation associated with disease

Proband information

Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database

No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.2T>C MeCP2_e1: p.M1? missense N-term Mutation associated with disease Female Rett syndrome-classical 6343 :::