Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000527.5:c.1477_1479delinsAGAGACA | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143890.44.01 | Tunisia | Diabetes mellitus; Corneal arcus; Premature coronary artery atherosclerosis | Male | Yes | No | The variant was found to result in a milder phenotype, as patients in this family had a delayed onset of coronary artery disease and prolonged survival beyond the age of 30 in the absence of lipid lowering drugs. |
| 143890.44.02 | Tunisia | Female | Yes | No | Wife and first cousin of 143890.44.01 | |
| 143890.44.03 | Tunisia | Female | Yes | No | First cousin of 143890.44.01. Married to First cousin 143890.44.04 | |
| 143890.44.04 | Tunisia | Diabetes mellitus | Male | Yes | No | Husband and First cousin of 143890.44.03 |
| 143890.44.05 | Tunisia | Hypercholesterolemia; Tendon Xanthomatosis ; Tuberous xanthoma; Corneal arcus; Peripheral arterial stenosis | Female | Yes | Yes | Daughter of 143890.44.01 |
| 143890.44.06 | Tunisia | Hypercholesterolemia; Tendon xanthomatosis; Tuberous xanthoma; Corneal arcus; Premature coronary artery atherosclerosis | Male | Yes | Yes | Son of 143890.44.01 |
| 143890.44.07 | Tunisia | Hypercholesterolemia; Tendon xanthomatosis ; Tuberous xanthoma; Premature coronary artery atherosclerosis | Female | Yes | Yes | Daughter of 143890.44.01 |
| 143890.44.08 | Tunisia | Hypercholesterolemia; Tendon xanthomatosis; Tuberous xanthoma; Corneal arcus; Peripheral arterial stenosis | Female | Yes | Yes | Daughter of 143890.44.03 |
| 143890.44.09 | Tunisia | Hypercholesterolemia; Tuberous xanthoma; Corneal arcus; Premature coronary artery atherosclerosis | Male | Yes | Yes | Son of 143890.44.03 |
| 143890.44.10 | Tunisia | Hypercholesterolemia; Tuberous xanthoma; Corneal arcus; | Male | Yes | Yes | Son of 143890.44.03 |
| 143890.44.11 | Tunisia | Male | Yes | No | First cousin once removed of 143890.44.03. Married to first cousin 143890.44.12 | |
| 143890.44.12 | Tunisia | Obesity | Female | Yes | No | First cousin once removed of 143890.44.03. Married to first cousin 143890.44.11 |
| 143890.44.13 | Tunisia | Female | Yes | Yes | Daughter of 143890.44.11 | |
| 143890.44.14 | Tunisia | Hypercholesterolemia; Tuberous Xanthoma; Corneal arcus | Male | Yes | Yes | Son of 143890.44.11 |
| 143890.44.16 | Tunisia | Female | Yes | Yes | Daughter of 143890.44.11 | |
| 143890.44.17 | Tunisia | Increased LDL cholesterol concentration | Female | Yes | Yes | Daughter of 143890.44.11 |