Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Cryptic mutation

A mutation is called cryptic if it affects a region that is normally not translated, so that it has no effect on the phenotype. In a more restricted sense this term is reserved for mutations that can become relevant under specific conditions. For instance in a pseudogene which by an other mutation becomes translated, or a region that becomes a regulatory element due to mutation in the transcription factor.

Related terms:

non-coding mutation regulatory mutation
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