Variant: rs111033560 

    present in Gene: PLN;CEP85L
    present in Chromosome: 6
    Position on Chromosome: 118559037
    Alleles of this Variant: T/G

rs111033560 in PLN;CEP85L gene and CARDIOMYOPATHY, DILATED, 1P PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 21167350 2011 PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

PMID 26535225 2015 Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia?

PMID 12639993 2003 Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 17655857 2007 Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.

rs111033560 in PLN;CEP85L gene and Hypertrophic Cardiomyopathy PMID 17655857 2007 Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.

PMID 21167350 2011 PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

PMID 23861362 2013 Interpreting secondary cardiac disease variants in an exome cohort.

PMID 16235537 2005 [Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area].

PMID 12639993 2003 Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.

PMID 21332051 2011 Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.