Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000520.5:c.78G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 272800.10.1 | Palestine | Male | Yes | Mother of patient with Tay-Sachs Disease | ||
| 272800.10.2 | Palestine | Male | Yes | Father of patient with Tay-Sachs Disease |