Variant: rs1057516031 

    present in Gene: MTM1
    present in Chromosome: X
    Position on Chromosome: 150598681
    Alleles of this Variant: G/T

rs1057516031 in MTM1 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516031 in MTM1 gene and Myopathy PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516031 in MTM1 gene and X-linked centronuclear myopathy PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.