Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_015627.2:c.406C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
603813.3.1 | Lebanon | Hypercholesterolemia; Xanthomatosis; Coronary artery atherosclerosis | Female | Yes | No | Turkish patient with Lebanese antecedents |
603813.3.2 | Lebanon | Hypercholesterolemia | Female | Yes | No | Sister of 603813.3.1 |
603813.3.3 | Lebanon | Hypercholesterolemia; Xanthomatosis | Male | Yes | No | Cousin of of 603813.3.1 |
603813.3.5 | Lebanon | Male | Yes | No | Father of of 603813.3.1 |