249100.G.1.4 - CAGS

249100.G.1.4

Country

Lebanon

HPO Terms

Recurrent fever

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Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000243.3:c.2230G>T	7	3.4%	Familial Mediterranean Fever

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Remarks

Group of patients including 2 homozygotes, 2 compound heterozygotes and 1 heterozygote

References

Sabbagh et al, 2008

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
249100.G.1.1	Lebanon	Recurrent fever				Group of patients including 12 homozygotes, 16 compound heterozygotes and 14 heterozygotes
249100.G.1.2	Lebanon	Recurrent fever				Group of patients including 7 homozygotes, 19 compound heterozygotes and 9 heterozygotes
249100.G.1.3	Lebanon	Recurrent fever				Group of patients including 7 homozygotes, 16 compound heterozygotes and 16 heterozygotes
249100.G.1.5	Lebanon	Recurrent fever				Group of patients including 3 homozygotes, 9 compound heterozygotes and 3 heterozygotes
249100.G.1.6	Lebanon	Recurrent fever				Group of patients including 3 homozygotes, 11 compound heterozygotes and 3 heterozygotes
249100.G.1.7	Lebanon	Recurrent fever				Group of patients including 1 homozygote, 3 compound heterozygotes and 1 heterozygote
249100.G.1.8	Lebanon	Recurrent fever				Group of patients including 2 compound heterozygotes and 3 heterozygotes
249100.G.1.9	Lebanon	Recurrent fever				Group of patients including 4 compound heterozygotes and 1 heterozygote
249100.G.1.10	Lebanon	Recurrent fever				Group of 2 heterozygous patients

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.