Variant information


Systematic Name
(NM_004992.3:)		 c.613G>T
Protein name
(NP_004983)		 p.Glu205*
Alternate systematic Name
(NM_001110792.1:)		 c.649G>T
Alternate Protein name
(NP_001104262)		 p.(Glu217*)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296666C>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.613G>T p.Glu205* Female Rett syndrome-Not certain 276 MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 View details
2 c.613G>T p.Glu205* Unknown Rett syndrome-Not certain 1321 Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 View details