D15G (p.Asp15Gly) variant of VDR (Vitamin D3 receptor)
D15G (p.Asp15Gly) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets type II with alopecia. The record also includes structural context.
D15G (p.Asp15Gly) variant details
- p.Asp15Gly
- TOPMed rs1466047868
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available