Table 6.

HFE Pathogenic Alleles Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_000410​.4
NP_000401​.1 		c.187C>Gp.His63AspAllele that is common in European or derivative populations
c.193A>Tp.Ser65CysHighest prevalence in French populations, although moderately common in other European & derivative populations
c.502G>Tp.Glu168TerAllele frequency of 25% in persons w/HFE HC in 2 regions of northern Italy [Piperno et al 2000]
c.506G>Ap.Trp169TerAllele frequency of 8.4% in persons w/HFE HC in 2 regions of northern Italy [Piperno et al 2000]
c.845G>Ap.Cys282TyrMost common pathogenic allele in European or derivative populations
NM_000410​.4 c.1006+1G>A--Common in Vietnamese populations in persons w/ & w/o evidence of iron overload [Barton et al 2015]
c.-20206_*5753del32745--Whole-gene deletion; most common pathogenic allele in Sardinians [Le Gac et al 2010]

HFE HC = HFE-related hemochromatosis

Alleles listed in the table were provided by the authors. GeneReviews staff have not independently verified the classification of alleles.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: HFE-Related Hemochromatosis

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