Variant information
Systematic Name (NM_004992.3:) |
c.194C>G |
---|---|
Protein name (NP_004983) |
p.Ser65* |
Alternate systematic Name (NM_001110792.1:) |
c.230C>G |
Alternate Protein name (NP_001104262) |
p.(Ser77*) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153297841G>C |
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.194C>G | p.Ser65* | Female | Not Known | 1732 | :Friez, Michael:: | View details |
2 | c.194C>G | p.Ser65* | Female | Not Known | 4424 | :Das, S., Dempsey, M. U. Chicago:: | View details |