Female
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000410.3:c.187C>G | 15 |
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. | ||
613609.1.3 | Lebanon | Female | No | Group of 2 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. |