249100.G.3.3

Country

Jordan

HPO Terms

Recurrent fever; Abdominal pain; Arthralgia
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000243.3:c.2040G>C89.5%

Remarks

Group of patients including 1 homozygote and 6 heterozygotes

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
249100.G.3.1JordanRecurrent fever; Abdominal pain; ArthralgiaYesYesGroup of patients including 7 homozygotes and 3 heterozygotes
249100.G.3.2JordanRecurrent fever; Abdominal pain; ArthralgiaYesYesGroup of 12 heterozygote patients
249100.G.3.4JordanRecurrent fever; Abdominal pain; ArthralgiaYesYesGroup of 6 heterozygote patients
249100.G.3.5JordanRecurrent fever; Abdominal pain; ArthralgiaYesYesGroup of 2 heterozygote patients
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