Variant information


Systematic Name
(NM_004992.3:)		 c.1160_1166del7
Protein name
(NP_004983)		 p.Pro387fs
Alternate systematic Name
(NM_001110792.1:)		 c.1196_1202del7
Alternate Protein name
(NP_001104262)		 p.(Pro399Leufs*20)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153296113_153296119del7
Mutation type frameshift insertion or deletion
Domain C-term
Pathogenicity Mutation associated with disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.1160_1166del7 p.Pro387fs Female Rett syndrome-Classical 4344 Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients:Monnerat, L.S., Moreira, A.D.S., Alves,M.C.V., Bonvicino, C.R., Vargas, F.R.:Brain & Development: 20031356 View details
2 c.1160_1166del7 p.Pro387fs Female Rett syndrome-not certain 4711 Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations:Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B.:Journal of Human Genetics: 21160487 View details