Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016941.3:c.926G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277300.2.1 | Palestine | Abnormal form of the vertebral bodies; Abnormal intervertebral disk morphology | No details of the family were provided except for a chromatogram indicating a single affected patient and healthy parents who were heterozygous for the mutation. | |||
| 277300.2.3 | Palestine | Male | Healthy father of the proband |