Variant information
Systematic Name (NM_004992.3:) |
c.233delC |
---|---|
Protein name (NP_004983) |
p.Ser78fs |
Alternate systematic Name (NM_001110792.1:) |
c.269delC |
Alternate Protein name (NP_001104262) |
p.(Ser90Leufs*47) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297802delG |
Mutation type | frameshift insertion or deletion |
Domain | MBD |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.233delC | p.Ser78fs | Female | Rett syndrome-classical | 3753 | 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 |