Variant information
Systematic Name (NM_004992.3:) |
c.-156C>T |
---|---|
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.5C>T |
Alternate Protein name (NP_001104262) |
p.(Ala2Val) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363118G>A |
Mutation type | missense |
Domain | N-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.-156C>T | p.(=) | Female | Rett syndrome-classical | 3864 | The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform:Fichou, Y., Nectoux, J., Bahi-Buisson, N., Rosas-Vargas, H., Girard, B., Chelly, J., Bienvenu, T.:Neurogenetics: 19034540 | View details |
2 | c.-156C>T | p.(=) | Female | Rett syndrome-not certain | 3867 | 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 |
3 | c.-156C>T | p.(=) | Female | Rett syndrome-classical | 6623 | ::: | View details |
4 | c.-156C>T | p.(=) | Female | Not Rett synd. | 6622 | ::: | View details |