Variant information


Systematic Name
(NM_004992.3:)		 c.538A>T
Protein name
(NP_004983)		 p.Lys180*
Alternate systematic Name
(NM_001110792.1:)		 c.574A>T
Alternate Protein name
(NP_001104262)		 p.(Lys192*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296741T>A
Mutation type nonsense
Domain inter-domain region
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.538A>T p.Lys180* Female Rett syndrome-not certain 3199 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305 View details