Variant information


Systematic Name
(NM_004992.3:)		 c.[=/360T>G]
Protein name
(NP_004983)		 p.[=/Tyr120*]
Alternate systematic Name
(NM_001110792.1:)
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
Mutation type nonsense
Domain MBD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[=/360T>G] p.[=/Tyr120*] 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 View details