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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP5F1A
(R147C +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
+3 more
GUncertain significance
ATP5F1A
Single nucleotide variant
(synonymous variant)
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
+3 more
GConflicting classifications of pathogenicity
ATP5F1A
(R329C +2 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A
GUncertain significance
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