RS143712760 PNPT1

Health Risk Chr 2:55647430
Upload your DNA to see your genotype for this variant.
Associated Conditions
Combined oxidative phosphorylation defect type 13
Neurodevelopmental disorder
Autosomal recessive nonsyndromic hearing loss 70
Inborn genetic diseases
Spinocerebellar ataxia type 25
PNPT1-related disorder
Combined oxidative phosphorylation defect type 13
Neurodevelopmental disorder
Autosomal recessive nonsyndromic hearing loss 70
Inborn genetic diseases
Spinocerebellar ataxia type 25
PNPT1-related disorder
Other Variants in PNPT1
rs397514598 rs397514599 rs374698153 rs146571352 rs748445058 rs863224169 rs767310806 rs34928857 rs772153760 rs151166046
Ask Dr. Hemsworth about this variant