Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474713
rs199474713
TPM3
0.810 GeneticVariation BEFREE The E173A, R90P, and E150A mutations produced abnormally large displacement of tropomyosin to the inner domains of actin and an increase in the number of myosin heads in strong-binding state at low and high Ca<sup>2+</sup>, which is characteristic of CFTD. 30544720

2018
dbSNP: rs199474713
rs199474713
TPM3
0.810 GeneticVariation UNIPROT Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096

2014
dbSNP: rs199474713
rs199474713
TPM3
0.810 GeneticVariation UNIPROT Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion. 19953533

2010
dbSNP: rs199474713
rs199474713
TPM3
0.810 GeneticVariation UNIPROT Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. 20951040

2010
dbSNP: rs199474713
rs199474713
TPM3
0.810 GeneticVariation UNIPROT Mutations in TPM3 are a common cause of congenital fiber type disproportion. 18300303

2008
dbSNP: rs199474713
rs199474713
TPM3
G 0.810 CausalMutation CLINVAR