Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1151_1188del38 | p.Pro384fs | Unknown | Rett syndrome-Classical | 915 | ::: | |
2 | c.1151_1188del38 | p.Pro384fs | Female | de novo | Rett syndrome-classical | 3870 | Rapid detection of deletions in hotspot c-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin:Khajuria, R., Sapra, S., Ghosh, M., Gupta, N., Gulati, S., Kalra, V., Kabra, M.:Genetic Testing and Molecular Biomarkers: 19371229 |