Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.378-3C>G | intronic variation | Female | Rett syndrome-Classical | 2102 | :Cardiff, UK:: | |
2 | c.378-3C>G | intronic variation | Female | de novo | Rett syndrome-classical | 3764 | Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms:Fukuda, T., Yamashita, Y., Nagamitsu, S., Miyamoto, K., Jin, J.-J., Ohmori, I., Ohtsuka, Y., Kuwajima, K., Endo, S., Iwai, T., Yamagata, H., Tabara, Y., Miki, T., Matsuishi, T., Kondo, I.:Brain & Development: 15737703 |
3 | c.378-3C>G | intronic variation | Female | Rett syndrome-classical | 6350 | ::: |