RS121434369 GCDH

Health Risk Chr 19:12897823 snv missense variant
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What This Variant Does
"rs121434369, also known as R402W or Arg402Trp, is a mutation in the glutaryl-CoA dehydrogenase GCDH ...
Associated Conditions
Glutaric aciduria
type 1
Abnormality of metabolism/homeostasis
Primary ciliary dyskinesia 29
Inborn genetic diseases
See cases
Glutaric aciduria
type 1
Glutaric aciduria
type 1
Abnormality of metabolism/homeostasis
Primary ciliary dyskinesia 29
Inborn genetic diseases
See cases
Glutaric aciduria
Population Frequencies
gnomAD ALL
100%
Other Variants in GCDH
rs121434366 rs121434367 rs121434371 rs121434368 rs121434370 rs952356983 rs121434372 rs121434373 rs398123190 rs398123191
Ask Dr. Hemsworth about this variant