Variant information


Systematic Name MECP2_e1: c.1A>T
Protein name MeCP2_e1: p.M1?
Mutation type missense
Domain N-term
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent exons 1-4
Number of chromosomes checked 498 chromosomes tested and not found in 498 chromosomes
Carrier status checked Yes
Carrier result mother normal, father not available for testing
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense N-term Unknown Female Rett syndrome-classical 3865 Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833
2 MECP2_e1: c.1A>T MeCP2_e1: p.M1? missense exon 1 Mutation associated with disease Female Rett syndrome-classical 6625 :::