Proband information
Proband id | 285 |
---|---|
Systematic Name (NM_004992.3:) |
c.720dupC |
Protein name (NP_004983) |
p.Thr241fs |
Alternate systematic Name (NM_001110792.1:) |
c.756dupC |
Alternate Protein name (NP_001104262) |
p.(Thr253Hisfs*18) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296559dupG |
Mutation type | Frameshift insertion or deletion |
Domain | TRD |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | |
Extent | |
Source of DNA | |
Carrier | Y |
Carrier result | Neither parent is carrier |
Other mutations | |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | Sporadic |
Phenotype-class | Rett syndrome-Not certain |
Reference | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.720dupC | p.Thr241fs | Female | Neither parent is carrier | Rett syndrome-Not certain | 285 | MECP2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin:Trappe, R., Laccone, F., Cobilanschi, J., Meins, M., Huppke, P., Hanefeld, F., Engel, W.:American Journal of Human Genetics: 11309679 |