Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000085.5:c.490G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 607364.1.1 | United Arab Emirates | Hypokalemic metabolic alkalosis | Female | Yes | Yes | Patients from this Emirati family were considered to have a mild manifestation of mixed Bartter and Gitelman syndromes. |
| 607364.1.2 | United Arab Emirates | Hypokalemic metabolic alkalosis | Male | Yes | Yes | Brother of 607364.1.1. Patients from this Emirati family were considered to have a mild manifestation of mixed Bartter and Gitelman syndromes. |
| 607364.1.4 | United Arab Emirates | Hypokalemic metabolic alkalosis | Female | Yes | Yes | Cousin of 607364.1.1. Patients from this Emirati family were considered to have a mild manifestation of mixed Bartter and Gitelman syndromes. |
| 607364.1.5 | United Arab Emirates | Male | Father of 607364.1.1 | |||
| 607364.1.6 | United Arab Emirates | Female | Mother of 607364.1.1 | |||
| 607364.1.7 | United Arab Emirates | Male | Father of 607364.1.3 | |||
| 607364.1.8 | United Arab Emirates | Female | Mother of 607364.1.3 |