Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000527.4:c.272del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143890.48 | Oman | Hypercholesterolemia | Unknown | |||
| 143890.48.1 | Oman | Corneal arcus; Xanthelasma; Tendon xanthomatosis; Tuberous xanthoma; Hypercholesterolemia; Respiratory distress; Angina pectoris | Female | Yes | Yes | Proband |
| 143890.48.3 | Oman | Hypercholesterolemia | Female | Yes | Yes | Sister of 143890.48.1 |
| 143890.48.4 | Oman | Hypercholesterolemia | Female | Yes | Yes | Sister of 143890.48.1 |