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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TXN2
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation deficiency 29
+1 more
GBenign
TXN2
(I126V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
TXN2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
TXN2
(W24*)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation deficiency 29
GPathogenic
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