M1T (p.Met1Thr) variant of SLC34A3 (Q8N130)
M1T (p.Met1Thr) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive hypophosphatemic bone disease. The record also includes population frequency data and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs748739254
- ClinGen CA5364160
- ClinVar RCV003877530
- ClinVar RCV005040606
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive hypophosphatemic bone disease
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive hypophosphatemic bone disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available