M28fsX variant of SLC19A3 (Thiamine transporter 2)
For M28fsX in SLC19A3 (Thiamine transporter 2), CATVariant brings together the available evidence for this variant. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
M28fsX variant details
- rs775835429
- Pathogenic
- EBI: ['pathogenic']
- UniProt: Pathogenic
- Structural context available