Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138691.2:c.1939T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600974.4.2 | Morocco | Hearing impairment | Female | Yes | Yes | Sister of 600974.4.1 |
| 600974.4.3 | Morocco | Male | Yes | Unaffected father of 600974.4.1 | ||
| 600974.4.4 | Morocco | Female | Yes | Unaffected mother of 600974.4.1 | ||
| 600974.4.5 | Morocco | Male | Yes | Yes | Unaffected brother of 600974.4.1 | |
| 600974.4.6 | Morocco | Female | Yes | Yes | Unaffected sister of 600974.4.1 | |
| 600974.4.7 | Morocco | Female | Yes | Yes | Unaffected sister of 600974.4.1 |