Variant information
Systematic Name (NM_004992.3:) |
c.153C>G |
---|---|
Protein name (NP_004983) |
p.His51Gln |
Alternate systematic Name (NM_001110792.1:) |
c.189C>G |
Alternate Protein name (NP_001104262) |
p.(His63Gln) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297882G>C |
Mutation type | missense |
Domain | N-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.153C>G | p.His51Gln | Female | Not Rett synd. | 4393 | :Khajuria, R.:: | View details |
2 | c.153C>G | p.His51Gln | Female | Not Rett synd. | 4788 | Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488 | View details |