Variant information
Systematic Name (NM_004992.3:) |
c.168C>T |
---|---|
Protein name (NP_004983) |
p.Pro56Pro |
Alternate systematic Name (NM_001110792.1:) |
c.204C>T |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297867G>A |
Mutation type | Silent |
Domain | N-term |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.168C>T | p.Pro56Pro | Unknown | Rett syndrome-Not certain | 147 | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 | View details |
2 | c.168C>T | p.Pro56Pro | Male | Not Known | 1794 | :Friez, Michael:: | View details |
3 | c.168C>T | p.Pro56Pro | Male | Not Known | 2140 | :Cardiff, UK:: | View details |