K44* (p.Lys44Ter) variant of SLC19A3 (Thiamine transporter 2)
K44* (p.Lys44Ter) in SLC19A3 (Thiamine transporter 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K44* (p.Lys44Ter) variant details
- p.Lys44Ter
- rs2470580726
- ClinGen CA2739278490
- ClinVar RCV003612849
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)