Proband information
Proband id | 4789 |
---|---|
Systematic Name (NM_004992.3:) |
c.50dupA |
Protein name (NP_004983) |
p.Asp17fs |
Alternate systematic Name (NM_001110792.1:) |
c.86dupA |
Alternate Protein name (NP_001104262) |
p.(Asp29Glufs*13) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297985dupT |
Mutation type | frameshift insertion or deletion |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | 100 chromosomes tested and not found in 100 chromosomes |
Detection | SSCP |
Extent | 80% of MECP2 |
Source of DNA | blood |
Carrier | Y |
Carrier result | not in parents |
Other mutations | N |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-classical |
Reference | Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.50dupA | p.Asp17fs | Female | not in parents | Rett syndrome-classical | 4789 | Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation:Khajuria, R., Gupta, N., Sapra, S., Gulati, S., Ghosh, M., Kalra, V., Kabra, M.:Brain & Development: 21300488 |