Proband information
Proband id | 2790 |
---|---|
Systematic Name (NM_004992.3:) |
c.1336-?_*?del |
Protein name (NP_004983) |
p.? |
Alternate systematic Name (NM_001110792.1:) |
|
Alternate Protein name (NP_001104262) |
|
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
|
Mutation type | frameshift insertion or deletion |
Domain | N-term/MBD/interdomain/TRD/NLS/C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | MLPA |
Extent | Exons1-12 |
Source of DNA | blood |
Carrier | N |
Carrier result | |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | not known |
Phenotype-class | Rett syndrome-classical |
Reference | Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1336-?_*?del | p.? | Female | Rett syndrome-classical | 2790 | Large deletions of the MECP2 gene in Chinese patients with classical Rett syndrome:Pan, H., Li, M.-R., Nelson, P., Bao, X.-H., Wu, X.-R., Yu, S.:Clinical Genetics: 17026625 |