Y27* (p.Tyr27Ter) variant of CYP17A1 (P05093)
Y27* (p.Tyr27Ter) in CYP17A1 (P05093) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y27* (p.Tyr27Ter) variant details
- p.Tyr27Ter
- rs104894152
- ClinGen CA115198
- ClinVar RCV000001874
- Ensembl rs104894152
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene. (PMID 15811924)