Variant information
Systematic Name (NM_004992.3:) |
c.463T>A |
---|---|
Protein name (NP_004983) |
p.Phe155Ile |
Alternate systematic Name (NM_001110792.1:) |
c.499T>A |
Alternate Protein name (NP_001104262) |
p.(Phe167Ile) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296816A>T |
Mutation type | Missense |
Domain | MBD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.463T>A | p.Phe155Ile | Unknown | Rett syndrome-Not certain | 867 | Mutation screening in Rett syndrome patients:Xiang, Fengqing, Buervenich, Silvia, Nicolao, Piero, Bailey, Mark E. S., Zhang, Zhiping, Anvret, Maria:Journal of Medical Genetics: 10745042 | View details |