Variant information
Systematic Name (NM_004992.3:) |
c.55C>T |
---|---|
Protein name (NP_004983) |
p.Gln19* |
Alternate systematic Name (NM_001110792.1:) |
c.91C>T |
Alternate Protein name (NP_001104262) |
p.(Gln31*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297980G>A |
Mutation type | nonsense |
Domain | N-term |
Pathogenicity | Mutation associated with disease |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.55C>T | p.Gln19* | Female | Rett syndrome-Atypical | 1264 | Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome:Kim, Soo-Jeong, Cook, Edwin H.:Human mutation: 10737989 | View details |
2 | c.55C>T | p.Gln19* | Female | Not Known | 4469 | :Das, S., Dempsey, M. U. Chicago:: | View details |