Variant information


Systematic Name
(NM_004992.3:)		 c.467A>G
Protein name
(NP_004983)		 p.Asp156Gly
Alternate systematic Name
(NM_001110792.1:)		 c.503A>G
Alternate Protein name
(NP_001104262)		 p.(Asp168Gly)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296812T>C
Mutation type Missense
Domain MBD
Pathogenicity Unknown

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.467A>G p.Asp156Gly Female Rett syndrome-Not certain 266 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.467A>G p.Asp156Gly Unknown Rett syndrome-Not certain 1292 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