Male
No
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000129.3:c.782G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613225.3.2 | Syria | Male | No | Unaffected father of 613225.3.1 | ||
613225.3.3 | Syria | Female | No | Yes | Unaffected mother of 613225.3.1 |