Annotation Detail
Information
- Associated Genes
- AHR
- Associated Variants
-
AHR p.Arg554Lys (p.R554K)
(
ENST00000242057.9,
ENST00000642825.1 )
AHR p.Arg554Lys (p.R554K) ( ENST00000242057.9, ENST00000642825.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001621.5(AHR):c.1661G>A (p.Arg554Lys) AND not provided
- ClinVar Allele ID
- 1155652
- ClinVar RefSeq Alternation Syntax
- NM_001621.5:c.1661G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001518339
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs