Variant: rs267607123 

    present in Gene: TNNC1
    present in Chromosome: 3
    Position on Chromosome: 52452222
    Alleles of this Variant: A/T

rs267607123 in TNNC1 gene and Cardiomyopathy, Familial Hypertrophic, 13 PMID 19439414 2009 A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.

PMID 16302972 2005 Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 18572189 2008 Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.

PMID 11385718 2001 First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.