Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000410.3:c.187C>G | 4 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613609.1.1 | Lebanon | Male | No | Group of 13 healthy volunteers. Percent transferrin saturation and serum ferritin were significantly increased in these 13 subjects carrying the H63D mutation compared to 46 subjects with the wild-type. | ||
| 613609.1.2 | Lebanon | Female | No | Group of 15 healthy volunteers. No significant differences were found in the percent transferrin saturation and serum ferritin levels between female carriers of the H63D mutation and those with the wild-type. |