Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_022437.3:c.965-1G>C | 2 |
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. |
210250.1.3 | Tunisia | Xanthelasma | Male | Yes | Father 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. |