Variant information
Systematic Name (NM_004992.3:) |
c.1101_1201del101 |
---|---|
Protein name (NP_004983) |
p.His367fs |
Alternate systematic Name (NM_001110792.1:) |
c.1137_1237del101 |
Alternate Protein name (NP_001104262) |
p.(His379Glnfs*4) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296078_153296178del101 |
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.1101_1201del101 | p.His367fs | Unknown | Rett syndrome-Not certain | 853 | 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 |
2 | c.1101_1201del101 | p.His367fs | Female | Rett syndrome-classical | 5063 | Spectrum of MECP2 mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations:Das, D.K., Raha, S., Sanghavi, D., Maitra, A., Udani, V.:Gene: 23262346 | View details |