S43* (p.Ser43Ter) variant of HNF4A (P41235)
S43* (p.Ser43Ter) in HNF4A (P41235) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S43* (p.Ser43Ter) variant details
- p.Ser43Ter
- rs2515644041
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10029
- ClinVar RCV004574968
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available