Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004425.4:c.1300_1301delAA | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
247100.6.2 | Saudi Arabia | Hoarse voice ; Yellow papule | Female | Yes | Yes | Sister of 247100.6.1 |
247100.6.3 | Saudi Arabia | Female | Yes | Yes | Unaffected sister of 247100.6.1 | |
247100.6.4 | Saudi Arabia | Male | Yes | Unaffected father of 247100.6.1 | ||
247100.6.5 | Saudi Arabia | Female | Yes | Unaffected mother of 247100.6.1 |