W12* (p.Trp12Ter) variant of FERMT1 (Fermitin family homolog 1)
W12* (p.Trp12Ter) 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 population frequency data, published literature, and structural context.
W12* (p.Trp12Ter) variant details
- p.Trp12Ter
- rs773429449
- ClinGen CA9758565
- ClinVar RCV003154181
- ExAC rs773429449
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Kindler Syndrome. (PMID 26937547)