G34R (p.Gly34Arg) variant of TNNC1 (P63316)
G34R (p.Gly34Arg) in TNNC1 (P63316) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- rs2471444684
- ClinGen CA353169184
- ClinVar RCV003315276
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel variant of TNNC1 associated with severe dilated cardiomyopathy causing infant mortality and stillbirth: a case… (PMID 36814108)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)