Variant information
Systematic Name (NM_004992.3:) |
c.517C>G |
---|---|
Protein name (NP_004983) |
p.Pro173Ala |
Alternate systematic Name (NM_001110792.1:) |
c.553C>G |
Alternate Protein name (NP_001104262) |
p.(Pro185Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296762G>C |
Mutation type | Missense |
Domain | Inter-domain region |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.517C>G | p.Pro173Ala | Unknown | Rett syndrome-Not certain | 1370 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | View details |