rs566002553

This variant is located in the TPM3 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

Congenital myopathy with fiber type disproportion; Congenital myopathy 4B, autosomal recessive

About TPM3

This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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