Proband information
Proband id | 2802 |
---|---|
Systematic Name (NM_004992.3:) |
c.-138_-134dupCGCCG |
Protein name (NP_004983) |
p.(=) |
Alternate systematic Name (NM_001110792.1:) |
c.23_27dupCGCCG |
Alternate Protein name (NP_001104262) |
p.(Ser10Argfs*36) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153363096_153363100dupCGGCG |
Mutation type | frameshift insertion or deletion |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | promoter and exon 1 |
Source of DNA | NK |
Carrier | Y |
Carrier result | de novo |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome:Ravn, K., Nielsen, J.B., Schwartz, M.:Clinical Genetics: 15857422 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.-138_-134dupCGCCG | p.(=) | Female | de novo | Rett syndrome-classical | 2802 | Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome:Ravn, K., Nielsen, J.B., Schwartz, M.:Clinical Genetics: 15857422 |