Variant: rs104894127 

    present in Gene: TPM2
    present in Chromosome: 9
    Position on Chromosome: 35685750
    Alleles of this Variant: G/C

rs104894127 in TPM2 gene and ARTHROGRYPOSIS, DISTAL, TYPE 1 PMID 12592607 2003 Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.

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