Details for Combination OLI186

VARIANTS HFE:p.Cys282Tyr in Heterozygous form; HAMP:c.148_150+2delATGGT, p.Met50del in Heterozygous form
GENE COMBINATION HAMP; HFE
OLIGOGENIC EFFECT True Digenic
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Rare hereditary hemochromatosis
REFERENCES 12915468
SCORES
FAMmanual
1

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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