Primary hyperoxaluria mutation database 

Mutations in the AGXT and GRHPR genes give rise to the clinical disorders of primary hyperoxaluria type 1 and type 2 respectively.

These databases contain a record of all published sequence variants that have been described in the AGXT (Williams et al., 2009) and GRHPR genes classified according to variant type. 

Nomenclature follows the recommendations of the Human Genome Variation Society http://www.hgvs.org

Information:


References
Williams E L et al., 2009 Hum Mutation 30: 910-917

Glyoxylate reductase