Proband information
Proband id | 1247 |
---|---|
Systematic Name (NM_004992.3:) |
c.531delA |
Protein name (NP_004983) |
p.Lys177fs |
Alternate systematic Name (NM_001110792.1:) |
c.567delA |
Alternate Protein name (NP_001104262) |
p.(Lys189Asnfs*33) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296748delT |
Mutation type | Frameshift insertion or deletion |
Domain | Inter-domain region |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | Exons 2-4 |
Source of DNA | Blood |
Carrier | NC |
Carrier result | |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Not known |
Phenotype-class | Rett syndrome-Not certain |
Reference | Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.531delA | p.Lys177fs | Female | Rett syndrome-Not certain | 1247 | Influence of mutation type and location on phenotype in 123 patients with Rett syndrome:Huppke, P., Held, M., Hanefeld, F., Engel, W., Laccone, F.:Neuropediatrics: 12075485 |