Proband information
Proband id | 3761 |
---|---|
Systematic Name (NM_004992.3:) |
c.1132_1202del71 |
Protein name (NP_004983) |
p.Ala378fs |
Alternate systematic Name (NM_001110792.1:) |
c.1168_1238del71 |
Alternate Protein name (NP_001104262) |
p.(Ala390Profs*3) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296077_153296147del71 |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Evidence of Pathogenicity | |
Detection | direct |
Extent | exons 1-4 |
Source of DNA | blood |
Carrier | Y |
Carrier result | de novo |
Other mutations | NK |
X-inactivation results | |
X-inactivation relatives | |
Gender | Female |
Sporadic/Familial | sporadic |
Phenotype-class | Rett syndrome-atypical |
Reference | 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 |
Matching entries in the proband database
No: | Systematic Name | Protein name | Gender | Carrier result | Phenotype | Proband id | Reference |
---|---|---|---|---|---|---|---|
1 | c.1132_1202del71 | p.Ala378fs | Unknown | Rett syndrome-Not certain | 1369 | Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions:Laccone, F., Huppke, P., Hanefeld, F., and Meins, M.:Human Mutation: 11241840 | |
2 | c.1132_1202del71 | p.Ala378fs | Female | de novo | Rett syndrome-atypical | 3761 | 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 |