Q124* (p.Gln124Ter) variant of SLC4A1 (Band 3 anion transport protein)
Q124* (p.Gln124Ter) in SLC4A1 (Band 3 anion transport protein) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q124* (p.Gln124Ter) variant details
- p.Gln124Ter
- rs1162787335
- ClinGen CA399795348
- ClinVar RCV002291016
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available