Annotation Detail
Information
- Associated Genes
- AGXT
- Associated Variants
-
AGXT p.Ile340Met (p.I340M)
(
ENST00000307503.4 )
AGXT p.Ile340Met (p.I340M) ( ENST00000307503.4 ) - Associated Disease
- Primary hyperoxaluria, type I
- Source Database
- ClinVar
- Description
- NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) AND Primary hyperoxaluria, type I
- ClinVar Allele ID
- 48085
- ClinVar RefSeq Alternation Syntax
- NM_000030.3:c.1020A>G
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2021-11-17
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032682
- ClinVar Disease
- Primary hyperoxaluria, type I
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 10960483
- Pubmed
- 15464418
Drugs