Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000243.3:c.442G>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249100.G.2.1 | Lebanon | Recurrent fever | Yes | Yes | Group of FMF patients including 1 homozygote and 19 compound heterozygotes belonging to one large family | |
| 249100.G.2.2 | Lebanon | Recurrent fever | Yes | Yes | Group 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.2.3 | Lebanon | Recurrent fever | Yes | Yes | Group of FMF patients including 2 homozygotes and 7 compound heterozygotes belonging to the same large family as 249100.G.2.1 | |
| 249100.G.2.5 | Lebanon | Recurrent fever | Yes | Yes | Group of 2 compound heterozygote FMF patients belonging to the same large family as 249100.G.2.1 | |
| 249100.G.2.6 | Lebanon | Yes | Yes | Group of healthy members including 1 homozygote, 4 compound heterozygotes and 9 heterozygotes belonging to the same large family as 249100.G.2.1 | ||
| 249100.G.2.7 | Lebanon | Yes | Yes | Group of healthy members including 4 compound heterozygotes and 11 heterozygotes belonging to the same large family as 249100.G.2.1 | ||
| 249100.G.2.8 | Lebanon | Yes | Yes | Group of healthy members including 1 compound heterozygote and 3 heterozygotes belonging to the same large family as 249100.G.2.1 | ||
| 249100.G.2.9 | Lebanon | Yes | Yes | Group of healthy members including 3 compound heterozygotes and 1 heterozygote belonging to the same large family as 249100.G.2.1 |