Variant: rs1186218257 

    present in Gene: KLHL40
    present in Chromosome: 3
    Position on Chromosome: 42688718
    Alleles of this Variant: G/T

rs1186218257 in KLHL40 gene and NEMALINE MYOPATHY 8 PMID 23746549 2013 Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.