OMIM: 235200Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | HFE |
|---|
| 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