Variant information


Systematic Name
(NM_004992.3:)		 c.1061G>T
Protein name
(NP_004983)		 p.Arg354Leu
Alternate systematic Name
(NM_001110792.1:)		 c.1097G>T
Alternate Protein name
(NP_001104262)		 p.(Arg366Leu)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296218C>A
Mutation type Missense
Domain C-term
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1061G>T p.Arg354Leu Male Not Rett synd. 2003 Unusual observations associated with novel C-terminal MECP2 mutations:Konrad Oexle, Barbara Thamm-Mücke, Andrea Bier, Sigrid Tinschert:: View details