RS2132555188 RRM2B
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Associated Conditions
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy
sensorineural deafness
and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy
sensorineural deafness
and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal dominant 5
Other Variants in RRM2B