GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HAMP Q54Kinsufficiently evaluated not reviewedunknown
HAMP R56Xinsufficiently evaluated pathogenicunknown

(20 web hits)

HAMP G71Duncertain pathogenic, f=0.002recessive

In a study from a small family (parent & two children), this variant was reported to have a modifier effect on hereditary haemochromatosis, increasing the severity of iron overload. Individuals were also homozygous or heterozygous for HFE C282Y. The variant was seen heterozygously in three of 1022 control chromosomes.

(68 web hits)

HAMP T84Ainsufficiently evaluated noneunknown
Total results: 4

Gene search

"GENE" or "GENE A123C":

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