A19S (p.Ala19Ser) variant of TNNT2 (Troponin T, cardiac muscle)
A19S (p.Ala19Ser) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili. The record also includes published literature.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- rs2527137527
- ClinGen CA344208075
- ClinVar RCV003793078
- ClinVar RCV006548875
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)