Variant: rs397516784 

    present in Gene: CEP85L;PLN
    present in Chromosome: 6
    Position on Chromosome: 118558957
    Alleles of this Variant: AGA/-

rs397516784 in CEP85L;PLN gene and CARDIOMYOPATHY, DILATED, 1P PMID 22155237 2012 The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.

PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22820313 2012 Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

PMID 23568436 2013 Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy.

PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

rs397516784 in CEP85L;PLN gene and Cardiomyopathies PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22820313 2012 Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

PMID 23785128 2013 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

rs397516784 in CEP85L;PLN gene and Cardiomyopathy, Dilated PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

PMID 22427649 2012 Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

PMID 17010801 2006 Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.

PMID 22155237 2012 The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.

PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22820313 2012 Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

PMID 19324307 2009 Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.