Variant information
Systematic Name (NM_004992.3:) |
c.905C>T |
---|---|
Protein name (NP_004983) |
p.Pro302Leu |
Alternate systematic Name (NM_001110792.1:) |
c.941C>T |
Alternate Protein name (NP_001104262) |
p.(Pro314Leu) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296374G>A |
Mutation type | Missense |
Domain | TRD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.905C>T | p.Pro302Leu | Unknown | Rett syndrome-Classical | 910 | ::: | View details |
2 | c.905C>T | p.Pro302Leu | Female | Rett syndrome-Not certain | 1636 | :Bunyan, D.:: | View details |
3 | c.905C>T | p.Pro302Leu | Female | Not Known | 1686 | :Friez, Michael:: | View details |
4 | c.905C>T | p.Pro302Leu | Female | Rett syndrome-Classical | 2174 | :Cardiff, UK:: | View details |
5 | c.905C>T | p.Pro302Leu | Female | Rett syndrome-classical | 3381 | MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with X chromosome inactivation patterm:Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N:European Journal of Human Genetics: 11313756 | View details |
6 | c.905C>T | p.Pro302Leu | Female | Rett syndrome-not certain | 3452 | Spectrum of MECP2 mutations in Rett syndrome:Bienvenu T, Villard L, de Roux N, Bourdon V, Fontes M, Beldjord C, Tardieu M, Jonveaux P, Chelly J:Genetic testing: 12180070 | View details |