Variant information

Systematic Name
Protein name
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
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.[423C>G];[=] p.[Tyr141*];[=] Male Rett syndrome-Male variant 1434 Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene:Schwartzman, J. S., Bernardino, Andrea, Nishimura, Agnes, Gomes, Raquel R. and Zatz, Mayana:Neuropediatrics: 11521215 View details