Variant: rs104894128 

    present in Gene: TPM2
    present in Chromosome: 9
    Position on Chromosome: 35685486
    Alleles of this Variant: T/G

rs104894128 in TPM2 gene and Nemaline myopathy 4 PMID 11738357 2002 Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

PMID 17846275 2007 Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

PMID 24692096 2014 Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.