Variant information
Systematic Name (NM_004992.3:) |
c.1404G>A |
---|---|
Protein name (NP_004983) |
p.Arg468Arg |
Alternate systematic Name (NM_001110792.1:) |
c.1440G>A |
Alternate Protein name (NP_001104262) |
p.(=) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153295875C>T |
Mutation type | Silent |
Domain | C-term |
Pathogenicity | Silent polymorphism |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.1404G>A | p.Arg468Arg | Male | Not Known | 2142 | :Cardiff, UK:: | View details |