Annotation Detail
Information
- Associated Genes
- NAT2
- Associated Variants
-
NAT2 p.Gly286Glu (p.G286E)
(
ENST00000286479.4,
ENST00000520116.1 )
NAT2 p.Gly286Glu (p.G286E) ( ENST00000286479.4, ENST00000520116.1 ) - Source Database
- ClinVar
- Description
- NM_000015.2(NAT2):c.857G>A (p.Gly286Glu) AND Slow acetylator due to N-acetyltransferase enzyme variant
- ClinVar Allele ID
- 15764
- ClinVar RefSeq Alternation Syntax
- NM_000015.3:c.857G>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/RCV000000761
- Observed Origin Sample
- germline
- Pubmed
- 18043717
- Pubmed
- 8460648
- Pubmed
- 1968463
Drugs