Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000517.6:c.*94A>G | 6 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613978.1.G.1 | United Arab Emirates | HbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentration | Male | 3 Omani patients | ||
613978.1.G.3 | United Arab Emirates | HbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentration | Male | 2 Emirati brothers | ||
613978.1.G.4 | United Arab Emirates | HbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentration | Male | 9 Emirati patients | ||
613978.1.G.5 | United Arab Emirates | HbH hemoglobin; Decreased mean corpuscular volume; Decreased mean corpuscular hemoglobin concentration | Male | 3 Emirati patients |