Variant information
Systematic Name (NM_004992.3:) |
c.1161_1400del240 |
---|---|
Protein name (NP_004983) |
p.Pro388_Pro467del |
Alternate systematic Name (NM_001110792.1:) |
c.1197_1436del240 |
Alternate Protein name (NP_001104262) |
p.(Pro400_Pro479del) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295879_153296118del240 |
Mutation type | In-frame insertion or deletion |
Domain | C-term |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1161_1400del240 | p.Pro388_Pro467del | Female | Not Rett synd. | 837 | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 | View details |
2 | c.1161_1400del240 | p.Pro388_Pro467del | Male | Not Rett synd. | 836 | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 | View details |
3 | c.1161_1400del240 | p.Pro388_Pro467del | Female | Not Rett synd. | 835 | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 | View details |
4 | c.1161_1400del240 | p.Pro388_Pro467del | Male | Not Rett synd. | 834 | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 | View details |
5 | c.1161_1400del240 | p.Pro388_Pro467del | Male | Not Rett synd. | 833 | In-frame deletion in MeCP2 causes mild nonspecific mental retardation:Yntema, Helger G., Oudakker, Astrid R., Kleefstra, Tjitske, Hamel, Ben C.J., van Bokhoven, Hans:American Journal of Medical Genetics: 11807877 | View details |