S45* (p.Ser45Ter) variant of TPM1 (Tropomyosin alpha-1 chain)
S45* (p.Ser45Ter) in TPM1 (Tropomyosin alpha-1 chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S45* (p.Ser45Ter) variant details
- p.Ser45Ter
- rs2140627688
- ClinGen CA392718518
- ClinVar RCV001756495
- Ensembl rs2140627688
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available