Variant information
Systematic Name (NM_004992.3:) |
c.905C>A |
---|---|
Protein name (NP_004983) |
p.Pro302His |
Alternate systematic Name (NM_001110792.1:) |
c.941C>A |
Alternate Protein name (NP_001104262) |
p.(Pro314His) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296374G>T |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.905C>A | p.Pro302His | Unknown | Rett syndrome-Not certain | 144 | Mutational analysis of the Mecp2 gene in Japanese patients with Rett syndrome:Amano, Kenji, Nomura, Yoshiko, Segawa, Masaya, Yamakawa, Kazuhiro:Journal of Human Genetics: 10944854 | View details |
2 | c.905C>A | p.Pro302His | Female | Rett syndrome-classical | 3676 | 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 | View details |
3 | c.905C>A | p.Pro302His | Female | Rett syndrome-classical | 3677 | 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 | View details |