RS146571352 PNPT1

Health Risk Chr 2:55647424
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What This Variant Does
"CLNSIG=4
Associated Conditions
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
Inborn genetic diseases
Spinocerebellar ataxia type 25
PNPT1-related disorder
Combined oxidative phosphorylation defect type 13
Autosomal recessive nonsyndromic hearing loss 70
Inborn genetic diseases
Spinocerebellar ataxia type 25
PNPT1-related disorder
Other Variants in PNPT1
rs397514598 rs397514599 rs374698153 rs748445058 rs863224169 rs143712760 rs767310806 rs34928857 rs772153760 rs151166046
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