249100.G.2.6

Country

Lebanon
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000243.3:c.2082G>A15

Remarks

Group of healthy members including 1 homozygote, 4 compound heterozygotes and 9 heterozygotes belonging to the same large family as 249100.G.2.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
249100.G.2.1LebanonRecurrent feverYesYesGroup of FMF patients including 1 homozygote and 19 compound heterozygotes belonging to one large family
249100.G.2.2LebanonRecurrent feverYesYesGroup of FMF patients including 1 homozygote, 20 compound heterozygotes and 2 heterozygotes belonging to the same large family as 249100.G.2.1
249100.G.2.3LebanonRecurrent feverYesYesGroup of FMF patients including 2 homozygotes and 7 compound heterozygotes belonging to the same large family as 249100.G.2.1
249100.G.2.4LebanonRecurrent feverYesYesGroup of 2 compound heterozygote FMF patients belonging to the same large family as 249100.G.2.1
249100.G.2.5LebanonRecurrent feverYesYesGroup of 2 compound heterozygote FMF patients belonging to the same large family as 249100.G.2.1
249100.G.2.7LebanonYesYesGroup of healthy members including 4 compound heterozygotes and 11 heterozygotes belonging to the same large family as 249100.G.2.1
249100.G.2.8LebanonYesYesGroup of healthy members including 1 compound heterozygote and 3 heterozygotes belonging to the same large family as 249100.G.2.1
249100.G.2.9LebanonYesYesGroup of healthy members including 3 compound heterozygotes and 1 heterozygote belonging to the same large family as 249100.G.2.1
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