Variant information


Systematic Name c.420delG
Protein name p.Tyr141fs
Mutation type frameshift insertion or deletion
Domain MBD
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 Yes
Carrier result absent in mother
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial
Phenotype-class Rett syndrome-Classical
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.420delG p.Tyr141fs frameshift insertion or deletion MBD Mutation associated with disease Female Rett syndrome-Classical 4362 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