Variant: rs113993956

present in Gene: MYH14 present in Chromosome: 19 Position on Chromosome: 50268255 Alleles of this Variant: G/A;T

rs113993956 in MYH14 gene and PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS PMID 21480433 2011 A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.