Variant information
Systematic Name (NM_004992.3:) |
c.377+11G>C |
---|---|
Protein name (NP_004983) |
intronic variation |
Alternate systematic Name (NM_001110792.1:) |
c.413+11G>C |
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297647C>G |
Mutation type | Intronic variation |
Domain | Intronic |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.377+11G>C | intronic variation | Female | Rett syndrome-Not certain | 208 | Mutations in the MECP2 gene in a cohort of girls with Rett syndrome:Hampson, Kim, Woods, C. Geoffrey, Latif, Farida, Webb, Tessa:Journal of Medical Genetics: 10991689 | View details |