Gene Symbol: HFE
OMIM: 613609Chromosome location: 6p22.2
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Hemochromatosis |
|---|
| Dna Change: | c.502G>T |
|---|
| Protein Change: | p.Glu168X |
|---|
| Mutation Type: | Substitution |
|---|
| Mutation Effect: | Nonsense |
|---|
| Location: | exon 3 |
|---|
| Transcript: | NM_000410.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | Northern | 0.58% | NA | Salvioni A et al., 2003Salvioni A, Mariani R, Oberkanins C, Moritz A, Mauri V, Pelucchi S, Riva A, Arosio C, Cerutti P, Piperno A, . Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry.. Haematologica. 2003; 88(3):250-5 |
References
Salvioni A, Mariani R, Oberkanins C, Moritz A, Mauri V, Pelucchi S, Riva A, Arosio C, Cerutti P, Piperno A, Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry.Haematologica. 2003; 88(3):250-5