E13* (p.Glu13Ter) variant of SLC4A1 (Band 3 anion transport protein)
E13* (p.Glu13Ter) 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.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- rs2144625139
- ClinGen CA399798515
- NCI-TCGA Cosmic COSV5226
- cosmic curated COSV52260
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available