Annotation Detail
Information
- Associated Genes
- POU1F1
- Associated Variants
-
NC_000003.12:g.87310484C>T
NC_000003.12:g.87310484C>T - Associated Disease
- Pituitary hormone deficiency, combined, 1
- Source Database
- ClinVar
- Description
- NC_000003.12:g.87310484C>T AND Pituitary hormone deficiency, combined, 1
- ClinVar Allele ID
- 171270
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2011-12-07
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000148937
- ClinVar Disease
- Pituitary hormone deficiency, combined, 1
- Observed Origin Sample
- inherited
Drugs