Q62* (p.Gln62Ter) variant of SLC4A1 (Band 3 anion transport protein)
Q62* (p.Gln62Ter) 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.
Q62* (p.Gln62Ter) variant details
- p.Gln62Ter
- rs2509971425
- ClinGen CA399796603
- ClinVar RCV003131487
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available