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rs104894440(A;C)

From SNPedia

dystonia due on GCH1 loss-of-function mutation
Is agenotype
ofrs104894440
GeneGCH1
Chromosome14
Position54,865,349
mentionedby
Magnitude4.4
ReputeBad
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 4.4 dystonia due on GCH1 loss-of-function mutation

The degree of dystonia may vary; see the discussion on the SNPedia GCH1 webpage. This is a genotype with recommended actions if clinically confirmed. In brief:

  • Be aware that penetrance varies widely, including between genders.
  • Have an exam by a movement disorder specialist at least several times a year.
  • If diagnosed, consider levodopa administration.
  • Evaluate relatives at risk in order to identify as early as possible those who would benefit from initiation of treatment.


The full ClinGen Actionability report about GCH1-deficient dopa-responsive dystonia (DRD) can be found here.

Genetic counseling may be available to you through your health-care network. Additional information is available via our Find A Genetic Counselor webpage, located here.