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 ) - Associated Disease
- NAT2-related disorder
- Source Database
- ClinVar
- Description
- NM_000015.2(NAT2):c.341T>C (p.Ile114Thr) AND NAT2-related disorder
- ClinVar Allele ID
- 15762
- ClinVar RefSeq Alternation Syntax
- NM_000015.3:c.341T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-12-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974785
- ClinVar Disease
- NAT2-related disorder
- Observed Origin Sample
- germline
Drugs