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TNNC1

Chr 3p21.1

troponin C1, slow skeletal and cardiac type

MANE:
ENST00000232975.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Dilated and arrhythmogenic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Dilated Cardiomyopathy and conduction defects

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hypertrophic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Paediatric or syndromic cardiomyopathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Hereditary neuropathy

  • Hereditary neuropathy or pain disorder

Disease associations (Open Targets)

  • dilated cardiomyopathy 1Z

    0.77
  • hypertrophic cardiomyopathy

    0.77
  • hypertrophic cardiomyopathy 13

    0.72
  • familial isolated dilated cardiomyopathy

    0.67
  • Rare familial disorder with hypertrophic cardiomyopathy

    0.49
  • neurodegenerative disease

    0.44
  • dilated cardiomyopathy

    0.42
  • heart failure

    0.40
  • congestive heart failure

    0.37
  • cardiovascular disorder

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Troponin I, cardiac muscle

Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity

Curated MONDO disease pages that list TNNC1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.