R23* (p.Arg23Ter) variant of ATP6V1B1 (P15313)
R23* (p.Arg23Ter) in ATP6V1B1 (P15313) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R23* (p.Arg23Ter) variant details
- p.Arg23Ter
- rs1553415274
- ClinGen CA347176795
- NCI-TCGA Cosmic COSV5226
- cosmic curated COSV52266
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)