Variant information


Systematic Name
(NM_004992.3:)		 c.*1134G>A
Protein name
(NP_004983)		 3'UTR variation
Alternate systematic Name
(NM_001110792.1:)		 c.*1134G>A
Alternate Protein name
(NP_001104262)
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.153294684C>T
Mutation type 3'UTR variation
Domain 3'UTR
Pathogenicity Polymorphism not causing disease

View proband information


No: Systematic Name Protein name Gender Phenotype Proband id References View
1 c.*1134G>A 3'UTR variation Female Rett syndrome-congenital 3860 Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation:Santos, M., Yan, J., Temudo, T., Oliveira, G., Vieira, J.P., Fen, J., Sommer, S., Maciel, P.:Disease Markers: 18688080 View details