Rs80356708

rs80356708, also known as 103delG, is a mutation in the glyoxylate reductase/hydroxypyruvate reductase GRHPR gene.

Individuals with two defective copies of the GRHPR gene may develop Primary hyperoxaluria type 2. The rs80356708(-) allele is such a defective allele, primarily found in Northern Europeans and their descendents. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.