Variant information
Systematic Name (NM_004992.3:) |
c.140dupA |
---|---|
Protein name (NP_004983) |
p.Pro48fs |
Alternate systematic Name (NM_001110792.1:) |
c.176dupA |
Alternate Protein name (NP_001104262) |
p.(Pro60Alafs*8) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297895dupT |
Mutation type | frameshift insertion or deletion |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.140dupA | p.Pro48fs | Female | Rett syndrome-classical | 3035 | MECP2 mutations in Israel: implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome:Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A:Human Mutation: 12325033 | View details |