FOXRED1 Chromosome 11

FAD dependent oxidoreductase domain containing 1

88 variants 88 Health Risk

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What This Gene Does

This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

Gene Info

Gene Group

"Mitochondrial respiratory chain complex assembly factors|Flavoproteins"

Locus Type

gene with protein product

Location

11q24.2

Ensembl

ENSG00000110074

Associated Conditions (8)

Leigh syndrome

Mitochondrial complex I deficiency

nuclear type 1

nuclear type 19

FOXRED1-related disorder

Inborn genetic diseases

Mitochondrial encephalopathy

Mitochondrial disease

Key Variants

RS138061928

Conflicting classifications of pathogenicity

Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1

Health Risk

RS139851379

Conflicting classifications of pathogenicity

Health Risk

RS143739550

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency

Health Risk

RS145888229

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency

Health Risk

RS146661281

Conflicting classifications of pathogenicity

Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1

Health Risk

RS147235743

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency

Health Risk

RS148346044

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency

Health Risk

RS149851763

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS150562772

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS180800246

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency

Health Risk

RS187124232

Conflicting classifications of pathogenicity

Health Risk

RS199542988

Conflicting classifications of pathogenicity

Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency

Health Risk

All Variants (88)

RSID	Category	Clinical Significance	Conditions
RS138061928	Health Risk	Conflicting classifications of pathogenicity	Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
RS139851379	Health Risk	Conflicting classifications of pathogenicity	FOXRED1-related disorder, FOXRED1-related disorder
RS143739550	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS145888229	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency
RS146661281	Health Risk	Conflicting classifications of pathogenicity	Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
RS147235743	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS148346044	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS149851763	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS150562772	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS180800246	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS187124232	Health Risk	Conflicting classifications of pathogenicity	—
RS199542988	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency
RS199599636	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS201261500	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS201288313	Health Risk	Conflicting classifications of pathogenicity	—
RS28372779	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS34542988	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS368307265	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS372318280	Health Risk	Conflicting classifications of pathogenicity	—
RS372575072	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS373075574	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency
RS536400690	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency
RS541684918	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS544236849	Health Risk	Conflicting classifications of pathogenicity	—
RS552937899	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS560953332	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS7116126	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS746609914	Health Risk	Conflicting classifications of pathogenicity	—
RS749675822	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS75183025	Health Risk	Conflicting classifications of pathogenicity	FOXRED1-related disorder, FOXRED1-related disorder
RS754235681	Health Risk	Conflicting classifications of pathogenicity	—
RS758966293	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency
RS766212625	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS777315728	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS77785510	Health Risk	Conflicting classifications of pathogenicity	Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS778727697	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS863224018	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS863224019	Health Risk	Conflicting classifications of pathogenicity	—
RS1273553756	Health Risk	Likely pathogenic	—
RS1296948086	Health Risk	Likely pathogenic	Leigh syndrome, Leigh syndrome
RS1317808124	Health Risk	Likely pathogenic	—
RS1389667497	Health Risk	Likely pathogenic	—
RS1555063749	Health Risk	Likely pathogenic	—
RS1565353132	Health Risk	Likely pathogenic	—
RS1950986906	Health Risk	Likely pathogenic	Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency
RS1951088118	Health Risk	Likely pathogenic	—
RS1951120467	Health Risk	Likely pathogenic	—
RS2497178565	Health Risk	Likely pathogenic	—
RS2497187405	Health Risk	Likely pathogenic	—
RS2497194252	Health Risk	Likely pathogenic	—

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