W15G (p.Trp15Gly) variant of CASR (P41180)
W15G (p.Trp15Gly) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia 1. The record also includes structural context.
W15G (p.Trp15Gly) variant details
- p.Trp15Gly
- rs2473205110
- ClinGen CA354362008
- ClinVar RCV003991523
- ClinVar RCV004371922
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hypercalcemia 1
- Missense
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis; Familial hypocalciuric hyperca)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available