V33E (p.Val33Glu) variant of PTH (Parathyroid hormone)
V33E (p.Val33Glu) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypoparathyroidism, familial isolated 1.
V33E (p.Val33Glu) variant details
- p.Val33Glu
- rs2499939905
- ClinGen CA379724852
- ClinVar RCV003388783
- Uncertain significance
- Hypoparathyroidism, familial isolated 1
- Missense
- ClinVar: Uncertain significance (Hypoparathyroidism, familial isolated 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance