Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.386G>T | p.Gly129Val | Female | Not Known | 2137 | :Cardiff, UK:: | |
2 | c.386G>T | p.Gly129Val | Female | de novo | Rett syndrome-not certain | 3528 | MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071 |