Annotation Detail
Information
- Associated Genes
- NAT2
- Associated Variants
-
NAT2 p.Ile114Thr (p.I114T)
(
ENST00000286479.4,
ENST00000520116.1 )
NAT2 p.Ile114Thr (p.I114T) ( ENST00000286479.4, ENST00000520116.1 ) - Source Database
- ClinVar
- Description
- NM_000015.2(NAT2):c.341T>C (p.Ile114Thr) AND Slow acetylator due to N-acetyltransferase enzyme variant
- ClinVar Allele ID
- 15762
- ClinVar RefSeq Alternation Syntax
- NM_000015.3:c.341T>C
- 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/RCV000000759
- Observed Origin Sample
- germline
- Pubmed
- 2068113
- Pubmed
- 18043717
- Pubmed
- 10667461
- Pubmed
- 16416399
- Pubmed
- 12351146
Drugs