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 ) - Source Database
- ClinVar
- Description
- NM_000015.3(NAT2):c.590G>A (p.Arg197Gln) AND Slow acetylator due to N-acetyltransferase enzyme variant
- ClinVar Allele ID
- 15761
- ClinVar RefSeq Alternation Syntax
- NM_000015.3:c.590G>A
- Clinical Significance Description
- drug response
- Clinical Significance Last Update
- 2012-10-28
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000758
- Observed Origin Sample
- germline
- Pubmed
- 2068113
- Pubmed
- 18043717
Drugs