Male
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 | ||
272800.10.3 | Palestine | Male | Yes | Yes | Brother of patient with Tay-Sachs Disease |