RS515726189 RRM2B
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What This Variant Does
"CLNSIG=5
Associated Conditions
RRM2B-related mitochondrial disease
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
RRM2B-related mitochondrial disease
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
Other Variants in RRM2B