Annotation Detail
Information
- Associated Genes
- POU1F1
- Associated Variants
-
POU1F1 p.Arg297Trp (p.R297W)
(
ENST00000350375.7,
ENST00000560656.1,
ENST00000344265.8 )
POU1F1 p.Arg297Trp (p.R297W) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 ) - Associated Disease
- Pituitary hormone deficiency, combined, 1
- Source Database
- ClinVar
- Description
- NM_000306.4(POU1F1):c.811C>T (p.Arg271Trp) AND Pituitary hormone deficiency, combined, 1
- ClinVar Allele ID
- 28642
- ClinVar RefSeq Alternation Syntax
- NM_000306.4:c.811C>T
- ClinVar RefSeq Alternation Syntax
- NM_001122757.3:c.889C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014573
- ClinVar Disease
- Pituitary hormone deficiency, combined, 1
- Observed Origin Sample
- germline
- Pubmed
- 1271194
- Pubmed
- 1509262
- Pubmed
- 9588494
- Pubmed
- 7833912
- Pubmed
- 15928241
- Pubmed
- 9392392
- Pubmed
- 7721104
- Pubmed
- 1472057
Drugs