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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP5MK
(N20S)
Single nucleotide variant
(missense variant)
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
GUncertain significance
ATP5MK
Duplication
(splice donor variant)
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
GLikely pathogenic
ATP5MK
Single nucleotide variant
(splice donor variant)
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
GPathogenic
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