Proband information
Proband id | 1366 |
---|---|
Systematic Name (NM_004992.3:) |
c.1030_1195del166insGT |
Protein name (NP_004983) |
p.Arg344fs |
Alternate systematic Name (NM_001110792.1:) |
c.1066_1231delinsGT |
Alternate Protein name (NP_001104262) |
p.(Arg356Valfs*6) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296084_153296249delinsAC |
Mutation type | frameshift combined insertion and deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | NC |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Unknown |
Sporadic/Familial | Sporadic |
Phenotype-class | Rett syndrome-Not certain |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1030_1195del166insGT | p.Arg344fs | Unknown | Rett syndrome-Not certain | 1366 | 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 |