Annotation Detail
Information
- Associated Genes
- HIF1A HIF1A-AS3
- Associated Variants
-
HIF1A p.Ala588Thr (p.A588T)
(
ENST00000337138.9,
ENST00000323441.10,
ENST00000394997.5,
ENST00000539097.2 )
HIF1A p.Ala588Thr (p.A588T) ( ENST00000323441.10, ENST00000337138.9, ENST00000394997.5, ENST00000539097.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001530.4(HIF1A):c.1762G>A (p.Ala588Thr) AND not provided
- ClinVar Allele ID
- 2844278
- ClinVar RefSeq Alternation Syntax
- NM_001530.4:c.1762G>A
- ClinVar RefSeq Alternation Syntax
- NM_001243084.2:c.1834G>A
- ClinVar RefSeq Alternation Syntax
- NM_181054.3:c.1762G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2023-09-18
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003482120
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs