Annotation Detail
Information
- Associated Genes
- POU1F1
- Associated Variants
-
POU1F1 p.Arg198Gln (p.R198Q)
(
ENST00000344265.8,
ENST00000350375.7,
ENST00000560656.1 )
POU1F1 p.Arg198Gln (p.R198Q) ( ENST00000344265.8, ENST00000350375.7, ENST00000560656.1 ) - Associated Disease
- Combined pituitary hormone deficiencies, genetic form
- Source Database
- ClinVar
- Description
- NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) AND Combined pituitary hormone deficiencies, genetic form
- ClinVar Allele ID
- 28653
- ClinVar RefSeq Alternation Syntax
- NM_000306.4:c.515G>A
- ClinVar RefSeq Alternation Syntax
- NM_001122757.3:c.593G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003323359
- ClinVar Disease
- Combined pituitary hormone deficiencies, genetic form
- Observed Origin Sample
- germline
Drugs