Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
"Lebanese Allele" NM_000527.4:c.2043C>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
143890.48.1 | Lebanon | Corneal arcus; Xanthelasma; Tendon xanthomatosis; Tuberous xanthoma; Hypercholesterolemia; Respiratory distress; Angina pectoris | Female | Yes | Yes | Proband |
143890.48.2 | Lebanon | Premature coronary artery atherosclerosis; Hypercholesterolemia | Male | Yes | Father of 143890.48.1 | |
143890.48.3 | Lebanon | Hypercholesterolemia | Female | Yes | Yes | Sister of 143890.48.1 |
143890.48.4 | Lebanon | Hypercholesterolemia | Female | Yes | Yes | Sister of 143890.48.1 |