Female
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_005957.4:c.665C>T | 1 | |||
| NM_000130.4:c.1601G>A | 1 | |||
| NM_000506.4:c.*97G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614389.2.2 | Lebanon | Recurrent spontaneous abortion; Hypercholesterolemia | Female | Mother of the index patient | ||
| 614389.2.3 | Lebanon | Recurrent spontaneous abortion | Female | Yes | No | Sister of the index patient |