R104P (p.Arg104Pro) variant of TNNT2 (Troponin T, cardiac muscle)
R104P (p.Arg104Pro) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili.
R104P (p.Arg104Pro) variant details
- p.Arg104Pro
- Ensembl rs397516457
- Conflicting interpretations
- Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardio)
- EBI: Pathogenic (in CMH2)
- UniProt: Pathogenic (in CMH2)