Variant information

Systematic Name
c.[834C>T(;) 965C>T]
Protein name
p.[Ala278Ala(;) Pro322Leu]
Alternate systematic Name
Alternate Protein name
Genomic nomenclature
Mutation type silent, missense
Domain TRD, C-term
Pathogenicity Unknown

View proband information

No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.[834C>T(;) 965C>T] p.[Ala278Ala(;) Pro322Leu] Female Rett syndrome-classical 2993 Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype:Chae, J.H., Hwang, H., Hwang, Y.S., Cheong, H.J., Kim, K.J.:Journal of Child Neurology: 15526954 View details