rs180177305

This is a variant in the GRHPR gene that changes a leucine to an proline.

▶

ClinVar annotation

Pathogenic
1 submitter

Primary hyperoxaluria, type II (HP2)

View on ClinVar →

About GRHPR

This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]

View all GRHPR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…