S114* (p.Ser114Ter) variant of FERMT1 (Fermitin family homolog 1)
S114* (p.Ser114Ter) in FERMT1 (Fermitin family homolog 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
S114* (p.Ser114Ter) variant details
- p.Ser114Ter
- rs1983080839
- ClinGen CA408192086
- ClinVar RCV001352793
- Ensembl rs1983080839
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Kindler Syndrome. (PMID 26937547)