rs111370399
This variant is located in the TPM2 gene.
▶ClinVar annotation
About TPM2
This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
View all TPM2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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