Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022437.3:c.965-1G>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 210250.1.1 | Tunisia | Xanthomatosis | Male | Yes | No | Proband. The homozygous form of the mutation was associated with generalized cutaneous xanthomatosis while the heterozygous form was linked to isolated xanthelasmas. |
| 210250.1.2 | Tunisia | Xanthomatosis | Female | Yes | No | Sister of 210250.1.1. |
| 210250.1.4 | Tunisia | Xanthelasma | Female | Yes | Mother of 210250.1.1. | |
| 210250.1.5 | Tunisia | Xanthelasma | Female | Yes | Paternal aunt of 210250.1.1. |