Unknown
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_004937.3:c.1013T>G | 12 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
219800.G.2.1 | Saudi Arabia | Renal insufficiency; Corneal crystals | Unknown | 5 patients with cystinosis | ||
219800.G.2.2 | Saudi Arabia | Renal insufficiency; Corneal crystals | Unknown | 2 patients with cystinosis | ||
219800.G.2.3 | Saudi Arabia | Renal insufficiency; Corneal crystals | Unknown | 3 patients with cystinosis | ||
219800.G.2.4 | Saudi Arabia | Renal insufficiency; Corneal crystals | Unknown | 2 patients with cystinosis |