Variant information


Systematic Name
(NM_004992.3:)		 c.481G>T
Protein name
(NP_004983)		 p.Gly161Trp
Alternate systematic Name
(NM_001110792.1:)		 c.517G>T
Alternate Protein name
(NP_001104262)		 p.(Gly173Trp)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296798C>A
Mutation type Missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.481G>T p.Gly161Trp Unknown Rett syndrome-Not certain 231 A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients:Bourdon, Violaine, Philippe, Christophe, Labrune, Orianne, Amsallem, Daniel, Arnould, Cécile, Jonveaux, Philippe:Human genetics: 11214906 View details