Gene: hemochromatosis; HFE


Gene Symbol: HFE
OMIM: 613609
Chromosome location: 6p22.2

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Hemochromatosis || c.502G>T

Phenotype:    Hemochromatosis
Dna Change:    c.502G>T
Protein Change:    p.Glu168X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 3
Transcript:    NM_000410.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANorthern0.58%NASalvioni 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