rs200452235

This variant is located in the ACTN3 gene.

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ClinVar annotation

Benign

1 submitter

ACTN3-related disorder

About ACTN3

This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2024]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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