Annotation Detail
Information
- Associated Genes
- NAT2
- Associated Variants
-
NAT2 p.Arg197Gln (p.R197Q)
(
ENST00000286479.4,
ENST00000520116.1 )
NAT2 p.Arg197Gln (p.R197Q) ( ENST00000286479.4, ENST00000520116.1 ) - Associated Disease
- NAT2-related disorder
- Source Database
- ClinVar
- Description
- NM_000015.3(NAT2):c.590G>A (p.Arg197Gln) AND NAT2-related disorder
- ClinVar Allele ID
- 15761
- ClinVar RefSeq Alternation Syntax
- NM_000015.3:c.590G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-03-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974784
- ClinVar Disease
- NAT2-related disorder
- Observed Origin Sample
- germline
Drugs