E30* (p.Glu30Ter) variant of ITGA6 (Integrin alpha-6)
E30* (p.Glu30Ter) in ITGA6 (Integrin alpha-6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- rs2468165774
- ClinGen CA349291339
- ClinVar RCV003723488
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available