Variant: rs199474724 

    present in Gene: LMNA
    present in Chromosome: 1
    Position on Chromosome: 156134839
    Alleles of this Variant: G/A

rs199474724 in LMNA gene and Emery-Dreifuss Muscular Dystrophy 3 PMID 27234031 2017 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

PMID 22431096 2012 Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.