Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000137.4:c.1A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 276700.3.1 | Saudi Arabia | Dehydration; Hypovolemic shock; Jaundice; Hepatomegaly; Elevated hepatic transaminase; Hypertrophic cardiomyopathy | Male | Yes | Yes | |
| 276700.3.3 | Saudi Arabia | Male | Yes | Father of 276700.3.1 | ||
| 276700.3.4 | Saudi Arabia | Female | Yes | Mother of 276700.3.1 |