RS199476138 MT-ATP6
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What This Variant Does
"CLNSIG=5
Associated Conditions
Leigh syndrome
Charcot-Marie-Tooth disease
Mitochondrial disease
Mitochondrial complex 5 (ATP synthase) deficiency
mitochondrial type 1
Leber optic atrophy
Mitochondrial DNA-Associated Leigh Syndrome and NARP
type IA
NARP syndrome
Primary mitochondrial disorders
Leigh syndrome
Charcot-Marie-Tooth disease
Mitochondrial disease
Mitochondrial complex 5 (ATP synthase) deficiency
mitochondrial type 1
Other Variants in MT-ATP6