Annotation Detail
Information
- Associated Genes
- AGXT
- Associated Variants
-
AGXT p.Pro11His (p.P11H)
(
ENST00000307503.4 )
AGXT p.Pro11Arg (p.P11R) ( ENST00000307503.4 )
AGXT p.Pro11Leu (p.P11L) ( ENST00000307503.4 )
AGXT p.Gly170Arg (p.G170R) ( ENST00000307503.4 )
AGXT p.Gly170Arg (p.G170R) ( ENST00000307503.4 )
AGXT p.Ile340Met (p.I340M) ( ENST00000307503.4 )
AGXT p.Pro11His (p.P11H) ( ENST00000307503.4 )
AGXT p.Pro11Arg (p.P11R) ( ENST00000307503.4 )
AGXT p.Pro11Leu (p.P11L) ( ENST00000307503.4 )
AGXT p.Gly170Arg (p.G170R) ( ENST00000307503.4 )
AGXT p.Gly170Arg (p.G170R) ( ENST00000307503.4 )
AGXT p.Ile340Met (p.I340M) ( ENST00000307503.4 ) - Associated Disease
- Primary hyperoxaluria, type I
- Source Database
- DisGeNET
- Description
- The G170R variant of the alanine:glyoxylate aminotransferase (AGT) is the most common pathogenic allele associated to primary hyperoxaluria type I (PH1), leading to mitochondrial mistargeting when combined with the P11L and I340M polymorphisms (minor allele; AGT(LM)).
- Pubmed
- 21103899
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.579000931045621
- Year of publication
- 2011
Drugs