Annotation Detail
Information
- Associated Genes
- HIF1A HIF1A-AS3
- Associated Variants
-
HIF1A p.Pro582Ser (p.P582S)
(
ENST00000337138.9,
ENST00000323441.10,
ENST00000394997.5,
ENST00000539097.2 )
HIF1A p.Pro582Ser (p.P582S) ( ENST00000323441.10, ENST00000337138.9, ENST00000394997.5, ENST00000539097.2 ) - Associated Disease
- cholangiocarcinoma
- Source Database
- ClinVar
- Description
- NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser) AND Cholangiocarcinoma
- ClinVar Allele ID
- 2736349
- ClinVar RefSeq Alternation Syntax
- NM_001530.4:c.1744C>T
- ClinVar RefSeq Alternation Syntax
- NM_181054.3:c.1744C>T
- ClinVar RefSeq Alternation Syntax
- NM_001243084.2:c.1816C>T
- Clinical Significance Description
- other
- Clinical Significance Last Update
- 2022-12-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003312797
- ClinVar Disease
- Cholangiocarcinoma
- Observed Origin Sample
- germline
Drugs