Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964853
rs121964853
TPM3
C 0.810 GeneticVariation CLINVAR Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. 26307083

2015
dbSNP: rs121964853
rs121964853
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: rs121964853
rs121964853
TPM3
C 0.810 GeneticVariation CLINVAR Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096

2014
dbSNP: rs121964853
rs121964853
TPM3
C 0.810 GeneticVariation CLINVAR Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene. 22749829

2012
dbSNP: rs121964853
rs121964853
TPM3
0.810 GeneticVariation UNIPROT Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. 20951040

2010
dbSNP: rs121964853
rs121964853
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: rs121964853
rs121964853
TPM3
C 0.810 GeneticVariation CLINVAR We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly). 18300303

2008
dbSNP: rs121964853
rs121964853
TPM3
0.810 GeneticVariation BEFREE We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly). 18300303

2008
dbSNP: rs121964853
rs121964853
TPM3
0.810 GeneticVariation UNIPROT We sequenced TPM3 in 23 unrelated probands with CFTD or CFTD-like presentations of unknown cause and identified novel heterozygous missense mutations in five CFTD families (p. Leu100Met, p.Arg168Cys, p.Arg168Gly, p.Lys169Glu, p.Arg245Gly). 18300303

2008
dbSNP: rs121964853
rs121964853
TPM3
T 0.810 CausalMutation CLINVAR