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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UQCRFS1, LOC130064118
(S6A)
Single nucleotide variant
(missense variant)
Mitochondrial complex 3 deficiency, nuclear type 10
GBenign
LOC130064118, UQCRFS1
Single nucleotide variant
(synonymous variant)
Mitochondrial complex 3 deficiency, nuclear type 10
GBenign
UQCRFS1
(V14D)
Single nucleotide variant
(missense variant)
Propionic acidemia
+2 more
GPathogenic
UQCRFS1
(R204*)
Single nucleotide variant
(nonsense)
Propionic acidemia
+2 more
GPathogenic
UQCRFS1
Single nucleotide variant
(splice acceptor variant)
Propionic acidemia
+2 more
GPathogenic
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