Variant: rs56793579

present in Gene: LMNA present in Chromosome: 1 Position on Chromosome: 156115102 Alleles of this Variant: C/G;T

rs56793579 in LMNA gene and Cardiomyopathies PMID 12015247 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.

PMID 12647844 2002 Post-mortem findings in familial partial lipodystrophy, Dunnigan variety.

PMID 20041886 2010 On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances.