E18* (p.Glu18Ter) variant of TNNT2 (Troponin T, cardiac muscle)
E18* (p.Glu18Ter) in TNNT2 (Troponin T, cardiac muscle) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature.
E18* (p.Glu18Ter) variant details
- p.Glu18Ter
- rs1660717867
- ClinGen CA344208336
- ClinVar RCV003805968
- TOPMed rs1660717867
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)