Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000244.3:c.789G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
131100.1.2 | United Arab Emirates | Macroprolactinoma; Primary hyperparathyroidism; Neuroendocrine neoplasm | Female | Yes | Maternal grandmother of 131100.1.1 |