Variant information
Systematic Name (NM_004992.3:) |
c.-160A>T |
---|---|
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.1A>T |
Alternate Protein name (NP_001104262) |
p.? |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363122T>A |
Mutation type | missense |
Domain | exon 1 |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-160A>T | p.(=) | Female | Rett syndrome-classical | 3865 | Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome:Saunders, C.J., Minassian, B.E., Chow, E.W.C., Zhao, W., Vincent, J.B.:Am J Med Genet Part A: 19365833 | View details |
2 | c.-160A>T | p.(=) | Female | Rett syndrome-classical | 6625 | ::: | View details |