Variant information


Systematic Name c.[473C>T(;)*14G>A]
Protein name "p.Thr158Met, 3'UTR variation"
Mutation type missense, 3'UTR variation
Domain MBD, 3'UTR
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood
Detection direct
Extent exons 2-4
Number of chromosomes checked 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked N
Carrier result
Other mutations Y
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Atypical
Reference Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[473C>T(;)*14G>A] "p.Thr158Met, 3'UTR variation" missense, 3'UTR variation MBD, 3'UTR Mutation associated with disease Female Rett syndrome-Atypical 4340 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356