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. 

Curator: Dr Gill Rumsby (gill.rumsby@uclh.nhs.uk)

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