Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_138691.2:c.1210T>C | 1 | |||
NM_138691.2:c.1939T>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
600974.6.1 | Morocco | Hearing impairment | Female | Yes | No | |
600974.6.3 | Morocco | Hearing impairment | Female | Yes | No | Sister of 600974.6.1 |
600974.6.4 | Morocco | Male | Yes | No | Unaffected father of 600974.6.1 | |
600974.6.5 | Morocco | Female | Yes | No | Unaffected mother of 600974.6.1 | |
600974.6.6 | Morocco | Female | Yes | No | Unaffected sister of 600974.6.1 | |
600974.6.7 | Morocco | Female | Yes | No | Unaffected sister of 600974.6.1 | |
600974.6.8 | Morocco | Male | Yes | No | Unaffected brother of 600974.6.1 |