613609.1.1

Country

Lebanon
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Sex

Male

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000410.3:c.187C>G13

Remarks

Group of 13 healthy volunteers. Percent transferrin saturation and serum ferritin were significantly increased in these 13 subjects carrying the H63D mutation compared to 46 subjects with the wild-type.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613609.1.2LebanonFemaleNoGroup of 15 healthy volunteers. No significant differences were found in the percent transferrin saturation and serum ferritin levels between female carriers of the H63D mutation and those with the wild-type.
613609.1.3LebanonFemaleNoGroup of 2 healthy volunteers. No significant differences were found in the percent transferrin saturation and serum ferritin levels between female carriers of the H63D mutation and those with the wild-type.
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