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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NSUN3
(A141P)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 48
GPathogenic
NSUN3
(C152S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation deficiency 48
GPathogenic
NSUN3
(R99*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NSUN3
Deletion
(splice acceptor variant +1 more)
Combined oxidative phosphorylation deficiency 48
GPathogenic
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