Annotation Detail
Information
- Associated Genes
- AGXT
- Associated Variants
-
AGXT p.Pro11Arg (p.P11R)
(
ENST00000307503.4 )
AGXT p.Pro11Arg (p.P11R) ( ENST00000307503.4 ) - Associated Disease
- Primary hyperoxaluria, type I
- Source Database
- ClinVar
- Description
- NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) AND Primary hyperoxaluria, type I
- ClinVar Allele ID
- 200424
- ClinVar RefSeq Alternation Syntax
- NM_000030.3:c.32C>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-03-25
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000186275
- ClinVar Disease
- Primary hyperoxaluria, type I
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs