K12* (p.Lys12Ter) variant of TPM1 (Tropomyosin alpha-1 chain)
K12* (p.Lys12Ter) 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 published literature and structural context.
K12* (p.Lys12Ter) variant details
- p.Lys12Ter
- rs2031426015
- ClinGen CA392717988
- ClinVar RCV001177029
- TOPMed rs2031426015
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)