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 (email@example.com)
Nomenclature follows the recommendations of the Human Genome Variation Society http://www.hgvs.org
Williams E L et al., 2009 Hum Mutation 30: 910-917