Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016941.4:c.594_598GCGGT[3] | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277300.1.1 | Palestine | Abnormal form of the vertebral bodies; Abnormal intervertebral disk morphology | Male | No | Yes | 1 healthy sister who lacks the mutation. |
| 277300.1.2 | Palestine | Female | No | Yes | Sister of 277300.1.1. Her affected son is deceased and was not tested. | |
| 277300.1.3 | Palestine | Abnormal form of the vertebral bodies; Abnormal intervertebral disk morphology | Female | No | Yes | Sibling of 277300.1.1 |
| 277300.1.4 | Palestine | Abnormal form of the vertebral bodies; Abnormal intervertebral disk morphology | Male | No | Yes | Sibling of 277300.1.1 |
| 277300.1.5 | Palestine | Female | No | Yes | wife of 277300.1.3 | |
| 277300.1.7 | Palestine | Female | No | Yes | Parent of 277300.1.6 | |
| 277300.1.8 | Palestine | Male | No | Yes | Parent of 277300.1.6 | |
| 277300.1.9 | Palestine | Abnormal form of the vertebral bodies; Abnormal intervertebral disk morphology | Female | No | Yes | Fourth cousins once removed to 277300.1.1 |
| 277300.1.10 | Palestine | Female | No | Yes | Parent of 277300.1.9 | |
| 277300.1.11 | Palestine | Male | No | Yes | Parent of 277300.1.9 | |
| 277300.1.12 | Palestine | Abnormal form of the vertebral bodies; Abnormal intervertebral disk morphology | Male | No | Yes | Nephew of 277300.1.1; son of 277300.1.4 and 277300.1.5 |
| 277300.1.13 | Palestine | Male | No | Yes | sibling of 277300.1.12 | |
| 277300.1.14 | Palestine | Male | No | Yes | Husband of 277300.1.2. His affected son is deceased and was not tested. |