S192W (p.Ser192Trp) variant of SLC34A3 (Q8N130)
S192W (p.Ser192Trp) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive hypophosphatemic bone disease. The record also includes population frequency data.
S192W (p.Ser192Trp) variant details
- p.Ser192Trp
- rs199690076
- ClinGen CA375730924
- ClinVar RCV000513261
- ESP rs199690076
- Pathogenic
- Autosomal recessive hypophosphatemic bone disease
- Missense
- ClinVar: Pathogenic (Autosomal recessive hypophosphatemic bone disease)
- EBI: Pathogenic (in HHRH)
- UniProt: Pathogenic (in HHRH)
- Population evidence available