Variant information
Systematic Name (NM_004992.3:) |
c.*363G>C |
---|---|
Protein name (NP_004983) |
3'UTR variation |
Alternate systematic Name (NM_001110792.1:) |
c.*363G>C |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295455C>G |
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.*363G>C | 3'UTR variation | Female | Rett syndrome-Classical | 2643 | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms:Zahorakova, D., Rosipal, R., Hadac, J., Zumrova, A., Bzduch, V., Misovicova, N., Baxova, A., Zeman, J., Martasek, P.:Journal of Human Genetics: 17387578 | View details |