249100.G.1.3

Country

Lebanon

HPO Terms

Recurrent fever

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000243.3:c.442G>C4622.2%

Remarks

Group of patients including 7 homozygotes, 16 compound heterozygotes and 16 heterozygotes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
249100.G.1.1LebanonRecurrent feverGroup of patients including 12 homozygotes, 16 compound heterozygotes and 14 heterozygotes
249100.G.1.2LebanonRecurrent feverGroup of patients including 7 homozygotes, 19 compound heterozygotes and 9 heterozygotes
249100.G.1.4LebanonRecurrent feverGroup of patients including 2 homozygotes, 2 compound heterozygotes and 1 heterozygote
249100.G.1.5LebanonRecurrent feverGroup of patients including 3 homozygotes, 9 compound heterozygotes and 3 heterozygotes
249100.G.1.6LebanonRecurrent feverGroup of patients including 3 homozygotes, 11 compound heterozygotes and 3 heterozygotes
249100.G.1.7LebanonRecurrent feverGroup of patients including 1 homozygote, 3 compound heterozygotes and 1 heterozygote
249100.G.1.8LebanonRecurrent feverGroup of patients including 2 compound heterozygotes and 3 heterozygotes
249100.G.1.9LebanonRecurrent feverGroup of patients including 4 compound heterozygotes and 1 heterozygote
249100.G.1.10LebanonRecurrent feverGroup of 2 heterozygous patients
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