Variant information


Systematic Name c.[=/360T>G]
Protein name p.[=/Tyr120*]
Mutation type nonsense
Domain MBD
Pathogenicity Mutation associated with disease

Proband information


Source of DNA blood, skin
Detection direct
Extent coding region
Number of chromosomes checked
Carrier status checked Yes
Carrier result not in mother
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Male
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-atypical
Reference Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male:Pieras, J.I., Muņoz-cabello, B., Borrego, S., Marcos, I., Sanchez, J., Madruga, M., Antiņolo, G.:Brain & Development: 20970936

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.[=/360T>G] p.[=/Tyr120*] nonsense MBD Mutation associated with disease Male Rett syndrome-atypical 4671 Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male:Pieras, J.I., Muņoz-cabello, B., Borrego, S., Marcos, I., Sanchez, J., Madruga, M., Antiņolo, G.:Brain & Development: 20970936