Variant information
Systematic Name (NM_004992.3:) |
c.911A>G |
---|---|
Protein name (NP_004983) |
p.Lys304Arg |
Alternate systematic Name (NM_001110792.1:) |
c.947A>G |
Alternate Protein name (NP_001104262) |
p.(Lys316Arg) |
Genomic nomenclature (ChrX(GRCh37))(NC_000023.10:) |
g.153296368T>C |
Mutation type | missense |
Domain | TRD |
Pathogenicity | Unknown |
View proband information
No: | Systematic Name | Protein name | Gender | Phenotype | Proband id | References | View |
---|---|---|---|---|---|---|---|
1 | c.911A>G | p.Lys304Arg | Female | Not Known | 4506 | :Das, S., Dempsey, M. U. Chicago:: | View details |