N36* (p.Asn36Ter) variant of PCCB (P05166)
N36* (p.Asn36Ter) in PCCB (P05166) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
N36* (p.Asn36Ter) variant details
- p.Asn36Ter
- rs2108127935
- ClinGen CA2499216492
- ClinVar RCV001384996
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)