L12R (p.Leu12Arg) variant of REN (Renin)
L12R (p.Leu12Arg) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial juvenile hyperuricemic nephropathy type 2. The record also includes published literature and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- rs2527501173
- ClinGen CA344343057
- ClinVar RCV003991107
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 2
- Missense
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)