Variant information


Systematic Name
(NM_004992.3:)		 c.720dupC
Protein name
(NP_004983)		 p.Thr241fs
Alternate systematic Name
(NM_001110792.1:)		 c.756dupC
Alternate Protein name
(NP_001104262)		 p.(Thr253Hisfs*18)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296559dupG
Mutation type Frameshift insertion or deletion
Domain TRD
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.720dupC p.Thr241fs Female Rett syndrome-Not certain 285 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