Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003060.3:c.760C>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 212140.6.1 | Lebanon | Dilated cardiomyopathy; Left ventricular systolic dysfunction; Mitral regurgitation; Decreased plasma carnitine | Female | Yes | No | Proband from 'Family A' in the publication |
| 212140.6.3 | Lebanon | Dilated cardiomyopathy; Left ventricular systolic dysfunction; Mitral regurgitation; Decreased plasma carnitine | Female | Yes | No | Affected sibling of 212140.6.1 |
| 212140.6.4 | Lebanon | Male | No | No | Father of 212140.6.1 | |
| 212140.6.5 | Lebanon | Female | No | No | Mother of 212140.6.1 | |
| 212140.6.6 | Lebanon | Female | Yes | No | Sister of 212140.6.1 | |
| 212140.6.7 | Lebanon | Female | Yes | No | Sister of 212140.6.1 | |
| 212140.6.8 | Lebanon | Male | Yes | No | Brother of 212140.6.1 |