Variant information
Systematic Name (NM_004992.3:) |
c.1141C>G |
---|---|
Protein name (NP_004983) |
p.Pro381Ala |
Alternate systematic Name (NM_001110792.1:) |
c.1177C>G |
Alternate Protein name (NP_001104262) |
p.(Pro393Ala) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296138G>C |
Mutation type | missense |
Domain | C-term |
Pathogenicity | Polymorphism not causing disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1141C>G | p.Pro381Ala | Female | Rett syndrome-classical | 3012 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | View details |
2 | c.1141C>G | p.Pro381Ala | Male | Not Rett synd. | 4050 | MECP2 gene mutation analysis in Chinese patients with Rett syndrome:Pan, H., Wang, Y.-P., Bao, X.-H., Meng, H.-D., Zhang, Y., Wu, X.-R-. Shen, Y.:European Journal of Human Genetics: 12111643 | View details |