Variant information
Systematic Name (NM_004992.3:) |
c.1159_1201del43 |
---|---|
Protein name (NP_004983) |
p.Pro387fs |
Alternate systematic Name (NM_001110792.1:) |
c.1195_1237del43 |
Alternate Protein name (NP_001104262) |
p.(Pro399Alafs*8) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296078_153296120del43 |
Mutation type | Frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1159_1201del43 | p.Pro387fs | Unknown | Rett syndrome-Not certain | 851 | 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 |