Variant information
Systematic Name (NM_004992.3:) |
c.542C>T |
---|---|
Protein name (NP_004983) |
p.Ala181Val |
Alternate systematic Name (NM_001110792.1:) |
c.578C>T |
Alternate Protein name (NP_001104262) |
p.(Ala193Val) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296737G>A |
Mutation type | Missense |
Domain | Inter-domain region |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.542C>T | p.Ala181Val | Male | Not Rett synd. | 1564 | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 | View details |
2 | c.542C>T | p.Ala181Val | Female | Not Rett synd. | 1565 | Mutation analysis of the coding sequence of the MECP2 gene in infantile autism:Beyer, Kim S., Blasi, Francesca, Bacchelli, Elena, Klauck, Sabine M., Maestrini, Elena, Poustka, Annemarie, International Molecular Genetic Study of Autism Consortium (IMGSAC):Human genetics: 12384770 | View details |