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GTR Home > Conditions/Phenotypes > Actn3 deficiency

Actn3 deficiency

Synonyms
ALPHA-ACTININ-3 DEFICIENCY

Summary

Approximately 16% of the world population is predicted to have congenital deficiency of alpha-actinin-3 based on a common nonsense polymorphism in the ACTN3 gene. Expression of alpha-actinin-3 is limited to a subset of type 2 (fast) fibers. No disease phenotype is associated with this deficiency (North et al., 1999). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACTN3D, ACTN3
    Summary: actinin alpha 3

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