Variant information
Systematic Name (NM_004992.3:) |
c.302C>G |
---|---|
Protein name (NP_004983) |
p.Pro101Arg |
Alternate systematic Name (NM_001110792.1:) |
c.338C>G |
Alternate Protein name (NP_001104262) |
p.(Pro113Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297733G>C |
Mutation type | missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.302C>G | p.Pro101Arg | Female | Rett syndrome-Not certain | 190 | 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 |
2 | c.302C>G | p.Pro101Arg | Female | Not Rett synd. | 1152 | Angelman syndrome phenotype associated with mutations in MeCP2, a gene encoding a methyl CpG binding protein:Watson, Pamela, Black, Graeme, Ramsden, Simon, Barrow, Margaret, Super, Maurice, Kerr, Bronwyn, Clayton-Smith, Jill:Journal of Medical Genetics: 11283202 | View details |
3 | c.302C>G | p.Pro101Arg | Female | Not Known | 4426 | :Das, S., Dempsey, M. U. Chicago:: | View details |
4 | c.302C>G | p.Pro101Arg | Female | Rett syndrome-classical | 6598 | ::: | View details |
5 | c.302C>G | p.Pro101Arg | Female | Rett syndrome-classical | 6597 | ::: | View details |