Variant information


Systematic Name
(NM_004992.3:)
c.906C>G
Protein name
(NP_004983)
p.Pro302Pro
Alternate systematic Name
(NM_001110792.1:)
c.942C>G
Alternate Protein name
(NP_001104262)
p.(=)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)
g.153296373G>C
Mutation type silent
Domain TRD
Pathogenicity Silent polymorphism

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.906C>G p.Pro302Pro Male Not Rett synd. 2753 Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males:Campos, M. Jr, Abdalla, C.B., Santos-Reboušas, C.B., dos Santos, A.V., Pestana, C.P., Domingues, M.L., dos Santos, J.M., Pimentel, M.M.G.:Brain & Development: 17084570 View details