MT-CO1 (mitochondrially encoded cytochrome c oxidase I) - Rat Genome Database

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Gene: MT-CO1 (mitochondrially encoded cytochrome c oxidase I) Homo sapiens
Analyze
Symbol: MT-CO1
Name: mitochondrially encoded cytochrome c oxidase I
RGD ID: 1343025
HGNC Page HGNC:7419
Description: Contributes to cytochrome-c oxidase activity. Predicted to be involved in aerobic respiration; positive regulation of vasoconstriction; and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial membrane and respiratory chain complex IV.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: COI; cytochrome c oxidase subunit I; MTCO1
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38MT5,904 - 7,445 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblMT5,904 - 7,445 (+)EnsemblGRCh38hg38GRCh38
GRCh37MT5,904 - 7,445 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT5,905 - 7,446 (+)NCBINCBI36Build 36hg18NCBI36


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(R)-carnitine  (ISO)
(S)-nicotine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-bis(4-hydroxyphenyl)propionitrile  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamiprid  (ISO)
acetylsalicylic acid  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
Aflatoxin G1  (EXP)
Aflatoxin G2  (EXP)
aldehydo-D-glucose  (ISO)
Allylamine  (ISO)
alpha-D-galactose  (ISO)
alpha-hexachlorocyclohexane  (ISO)
aminoguanidine  (ISO)
aristolochic acid A  (EXP)
atorvastatin calcium  (ISO)
atrazine  (EXP,ISO)
beauvericin  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
berberine  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (ISO)
carbon nanotube  (ISO)
chalcones  (EXP)
chloramphenicol  (EXP)
chlorogenic acid  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
crotonaldehyde  (ISO)
curcumin  (EXP)
D-glucose  (ISO)
dehydroepiandrosterone  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (ISO)
Di-n-octyl phthalate  (EXP)
diallyl trisulfide  (EXP)
dichloromethane  (ISO)
dioxygen  (ISO)
disodium selenite  (ISO)
disulfiram  (ISO)
doxorubicin  (EXP,ISO)
enniatin  (EXP)
ethidium  (EXP)
folic acid  (ISO)
galactose  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (ISO)
herbicide  (ISO)
hydrogen peroxide  (ISO)
hydroquinone  (EXP)
hydroxytyrosol  (ISO)
ivermectin  (EXP)
kojic acid  (EXP)
lamivudine  (ISO)
lead nitrate  (ISO)
lenvatinib  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
lithocholic acid  (ISO)
LY294002  (ISO)
malathion  (ISO)
melatonin  (ISO)
Mesaconitine  (ISO)
metformin  (EXP,ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
N-acetyl-L-cysteine  (ISO)
N-butyl-N-(4-hydroxybutyl)nitrosamine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nefazodone  (EXP)
nickel dichloride  (ISO)
nicotinamide  (EXP)
nicotine  (ISO)
nitric oxide  (ISO)
O-acetyl-L-carnitine  (ISO)
ochratoxin A  (EXP)
Osajin  (EXP)
ozone  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
PhIP  (ISO)
picloram  (ISO)
pirinixic acid  (ISO)
poly(guanylic acid)  (ISO)
Pomiferin  (EXP)
puerarin  (EXP,ISO)
pyrroloquinoline quinone  (EXP)
pyruvic acid  (ISO)
quercetin  (ISO)
rac-1,2-dichloropropane  (ISO)
resveratrol  (EXP)
Rosavin  (EXP)
rotenone  (EXP)
sevoflurane  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (EXP,ISO)
sodium hydrogensulfite  (ISO)
sulforaphane  (ISO)
sulfur dioxide  (ISO)
sunitinib  (ISO)
T-2 toxin  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
thiram  (EXP)
tofacitinib  (EXP)
trichlopyr  (ISO)
trilobatin  (ISO)
tunicamycin  (EXP)
uridine  (ISO)
valproic acid  (EXP,ISO)
zalcitabine  (EXP,ISO)
zearalenone  (EXP)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aortic valve physiology  (IAGP)
Abnormal central motor function  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormal mitral valve physiology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of glycolipid metabolism  (IAGP)
Abnormality of jaw muscles  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Acute kidney injury  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Aphasia  (IAGP)
Aplasia/Hypoplasia of the cerebral white matter  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Basal ganglia calcification  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bipolar affective disorder  (IAGP)
Blurred vision  (IAGP)
Brain atrophy  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiac conduction abnormality  (IAGP)
Cardiomyopathy  (IAGP)
Central scotoma  (IAGP)
Centrocecal scotoma  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Color vision defect  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Dark urine  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Developmental cataract  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Disseminated intravascular coagulation  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
EEG abnormality  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Elevated circulating aldolase concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Encephalopathy  (IAGP)
Episodic vomiting  (IAGP)
Erythema  (IAGP)
Exercise intolerance  (IAGP)
Exercise-induced myalgia  (IAGP)
Exercise-induced myoglobinuria  (IAGP)
External ophthalmoplegia  (IAGP)
Failure to thrive  (IAGP)
Fatigable weakness of swallowing muscles  (IAGP)
Fever  (IAGP)
Fluctuations in consciousness  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Hemianopia  (IAGP)
Hemiparesis  (IAGP)
Highly elevated creatine kinase  (IAGP)
Hyperkalemia  (IAGP)
Hyperphosphatemia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypocalcemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoparathyroidism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypothyroidism  (IAGP)
Impaired mastication  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased CSF lactate  (IAGP)
Increased CSF protein concentration  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Lactic acidosis  (IAGP)
Leber optic atrophy  (IAGP)
Left ventricular hypertrophy  (IAGP)
Low-set ears  (IAGP)
Lower limb muscle weakness  (IAGP)
Macrocytic dyserythropoietic anemia  (IAGP)
Memory impairment  (IAGP)
Migraine  (IAGP)
Mitochondrial inheritance  (IAGP)
Mitochondrial myopathy  (IAGP)
Mitochondrial respiratory chain defects  (IAGP)
Mixed demyelinating and axonal polyneuropathy  (IAGP)
Motor delay  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Myositis  (IAGP)
Neck muscle weakness  (IAGP)
Nephropathy  (IAGP)
Oliguria  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Personality changes  (IAGP)
Pigmentary retinopathy  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postural tremor  (IAGP)
Premature birth  (IAGP)
Progressive external ophthalmoplegia  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Progressive visual loss  (IAGP)
Proteinuria  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Proximal tubulopathy  (IAGP)
Psychosis  (IAGP)
Psychotic mentation  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Ragged-red muscle fibers  (IAGP)
Recurrent myoglobinuria  (IAGP)
Recurrent pancreatitis  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Reduced consciousness  (IAGP)
Reduced contrast sensitivity  (IAGP)
Reduced tendon reflexes  (IAGP)
Renal insufficiency  (IAGP)
Retinal nerve fiber edema  (IAGP)
Retinal telangiectasia  (IAGP)
Retinal vascular tortuosity  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short stature  (IAGP)
Slow decrease in visual acuity  (IAGP)
Specific learning disability  (IAGP)
Stroke-like episode  (IAGP)
Stuttering  (IAGP)
Tetralogy of Fallot  (IAGP)
Type 2 muscle fiber atrophy  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Variable expressivity  (IAGP)
Ventricular preexcitation  (IAGP)
Viral infection-induced rhabdomyolysis  (IAGP)
Visual loss  (IAGP)
Vitiligo  (IAGP)
Vomiting  (IAGP)
Wide intermamillary distance  (IAGP)
Widened cerebral subarachnoid space  (IAGP)
Wolff-Parkinson-White syndrome  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. RNAs containing mitochondrial ND6 and COI sequences present an abnormal structure in chemically induced rat hepatomas. Corral M, etal., Nucleic Acids Res. 1989 Jul 11;17(13):5191-206.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. Metabolic activity of cerebellar and basal ganglia-thalamic neurons is reduced in parkinsonism. Rolland AS, etal., Brain. 2007 Jan;130(Pt 1):265-75.
6. Up-regulation of cytochrome oxidase in the retina following optic nerve injury. Wang AG, etal., Exp Eye Res. 2002 May;74(5):651-9.
7. WY14643 improves left ventricular myocardial mitochondrial and systolic functions in obese rats under chronic persistent hypoxia via the PPARα pathway. Yan J, etal., Life Sci. 2021 Feb 1;266:118888. doi: 10.1016/j.lfs.2020.118888. Epub 2020 Dec 10.
Additional References at PubMed
PMID:1651240   PMID:11345519   PMID:11849212   PMID:12140182   PMID:12762840   PMID:14607829   PMID:14759509   PMID:15036329   PMID:15308583   PMID:15931342   PMID:16002321   PMID:16335786  
PMID:16671096   PMID:16740593   PMID:17341490   PMID:17357124   PMID:17893145   PMID:18204294   PMID:18251004   PMID:18484665   PMID:18624398   PMID:18626009   PMID:18718066   PMID:19050702  
PMID:19147801   PMID:19267350   PMID:19393246   PMID:19570036   PMID:19758471   PMID:20301403   PMID:20301411   PMID:20301595   PMID:20301607   PMID:20382059   PMID:20936779   PMID:21389643  
PMID:21621438   PMID:21653829   PMID:21988832   PMID:22252130   PMID:22356826   PMID:22419111   PMID:22927926   PMID:22990118   PMID:23030649   PMID:23088713   PMID:23168492   PMID:23260140  
PMID:23362268   PMID:23509693   PMID:23712756   PMID:24956508   PMID:25544563   PMID:25663696   PMID:25701779   PMID:25959673   PMID:26186194   PMID:26225554   PMID:26321642   PMID:26465331  
PMID:26987334   PMID:27342126   PMID:28247525   PMID:28362707   PMID:28514442   PMID:28819937   PMID:29154948   PMID:29335583   PMID:29610859   PMID:30030519   PMID:30207067   PMID:30334343  
PMID:30743023   PMID:31299394   PMID:31350224   PMID:31980649   PMID:32358433   PMID:32428756   PMID:33961781   PMID:34800366   PMID:34927316   PMID:35084690   PMID:36736316   PMID:37716021  
PMID:38466451  


Genomics

Comparative Map Data
MT-CO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38MT5,904 - 7,445 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblMT5,904 - 7,445 (+)EnsemblGRCh38hg38GRCh38
GRCh37MT5,904 - 7,445 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT5,905 - 7,446 (+)NCBINCBI36Build 36hg18NCBI36
mt-Co1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39MT5,328 - 6,872 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblMT5,328 - 6,872 (+)EnsemblGRCm39 Ensembl
GRCm38MT5,328 - 6,872 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblMT5,328 - 6,872 (+)EnsemblGRCm38mm10GRCm38
MGSCv37MT5,328 - 6,872 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Mt-co1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2MT5,323 - 6,867 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblMT5,323 - 6,867 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0MT5,323 - 6,867 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblMT5,323 - 6,867 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0MT5,323 - 6,867 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4MT5,323 - 6,867 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Cytogenetic MapMT NCBI
MT-CO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1MT5,349 - 6,893 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblMT5,349 - 6,893 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaMT5,349 - 6,893 (+)NCBIDog10K_Boxer_Tasha
MT-CO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblMT6,511 - 8,055 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1MT6,511 - 8,055 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2MT6,511 - 8,055 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in MT-CO1
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_012920.1(MT-CO1):m.6264G>A single nucleotide variant Familial colorectal cancer [RCV000010305]|Leigh syndrome [RCV000853954] ChrMT:6264 [GRCh38]
ChrMT:6264 [GRCh37]
pathogenic|uncertain significance
NC_012920.1(MT-CO1):m.7275T>C single nucleotide variant Familial colorectal cancer [RCV000010311] ChrMT:7275 [GRCh38]
ChrMT:7275 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6277G>A single nucleotide variant Familial colorectal cancer [RCV000010310] ChrMT:6277 [GRCh38]
ChrMT:6277 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.7444G>A single nucleotide variant Aminoglycoside-induced deafness [RCV000010300]|Leber optic atrophy [RCV000010299]|Leigh syndrome [RCV000854073]|Mitochondrial disease [RCV003319164]|Mitochondrial non-syndromic sensorineural hearing loss [RCV000010301]|not provided [RCV001268422] ChrMT:7444 [GRCh38]
ChrMT:7444 [GRCh37]
pathogenic|benign|likely benign
m.6742T>C single nucleotide variant Mitochondrial disease [RCV003985256]|Myelodysplastic syndrome with ring sideroblasts [RCV000010302]|not specified [RCV002247303] ChrMT:6742 [GRCh38]
ChrMT:6742 [GRCh37]
pathogenic|uncertain significance
NC_012920.1(MT-CO1):m.6721T>C single nucleotide variant Mitochondrial disease [RCV004791205]|Myelodysplastic syndrome with ring sideroblasts [RCV000010303] ChrMT:6721 [GRCh38]
ChrMT:6721 [GRCh37]
pathogenic|uncertain significance
NC_012920.1(MT-CO1):m.6480G>A single nucleotide variant Leigh syndrome [RCV000853974]|Mitochondrial complex IV deficiency, nuclear type 1 [RCV000010304]|Mitochondrial disease [RCV003985072] ChrMT:6480 [GRCh38]
ChrMT:6480 [GRCh37]
pathogenic|benign|uncertain significance
NC_012920.1(MT-CO1):m.6930G>A single nucleotide variant Mitochondrial complex IV deficiency, nuclear type 1 [RCV000010306]|Mitochondrial disease [RCV003985257] ChrMT:6930 [GRCh38]
ChrMT:6930 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1(MT-CO1):m.6489C>A single nucleotide variant Cytochrome c oxidase I deficiency [RCV000010308]|Leigh syndrome [RCV000853976] ChrMT:6489 [GRCh38]
ChrMT:6489 [GRCh37]
pathogenic|benign
m.6328C>T single nucleotide variant Cytochrome c oxidase I deficiency [RCV000010309] ChrMT:6328 [GRCh38]
ChrMT:6328 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.5920G>A single nucleotide variant Mitochondrial disease [RCV003985258]|Myoglobinuria, recurrent [RCV000010307] ChrMT:5920 [GRCh38]
ChrMT:5920 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1(MT-TS1):m.7445A>G single nucleotide variant MELAS syndrome [RCV000850885]|Mitochondrial disease [RCV003162228]|Mitochondrial non-syndromic sensorineural hearing loss [RCV000010177]|Palmoplantar keratoderma-deafness syndrome [RCV000010176] ChrMT:7445 [GRCh38]
ChrMT:7445 [GRCh37]
pathogenic
NC_012920.1(MT-TS1):m.7445A>C single nucleotide variant Mitochondrial non-syndromic sensorineural hearing loss [RCV000010181] ChrMT:7445 [GRCh38]
ChrMT:7445 [GRCh37]
pathogenic
NC_012920.1:m.7443A>G single nucleotide variant Mitochondrial non-syndromic sensorineural hearing loss [RCV000202557] ChrMT:7443 [GRCh38]
ChrMT:7443 [GRCh37]
pathogenic
NC_012920.1(MT-TY):m.5782_13922del deletion Primary dilated cardiomyopathy [RCV000191151] ChrMT:5782..13922 [GRCh38]
ChrMT:5782..13922 [GRCh37]
likely pathogenic
NC_012920.1(MT-TY):m.5794_14876del deletion Primary dilated cardiomyopathy [RCV000191152] ChrMT:5794..14876 [GRCh38]
ChrMT:5794..14876 [GRCh37]
likely pathogenic
NC_012920.1:m.7082C>A single nucleotide variant External ophthalmoplegia [RCV000757947] ChrMT:7082 [GRCh38]
ChrMT:7082 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6071T>C single nucleotide variant not provided [RCV000224136] ChrMT:6071 [GRCh38]
ChrMT:6071 [GRCh37]
benign|likely benign
NC_012920.1:m.6554C>T single nucleotide variant not provided [RCV000224265] ChrMT:6554 [GRCh38]
ChrMT:6554 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6734G>A single nucleotide variant not provided [RCV000224334] ChrMT:6734 [GRCh38]
ChrMT:6734 [GRCh37]
benign
NC_012920.1(MT-CO1):m.5951A>G single nucleotide variant not provided [RCV000224370] ChrMT:5951 [GRCh38]
ChrMT:5951 [GRCh37]
likely pathogenic|benign|likely benign
NC_012920.1(MT-CO1):m.6261G>A single nucleotide variant Leigh syndrome [RCV000853953]|not provided [RCV000224375] ChrMT:6261 [GRCh38]
ChrMT:6261 [GRCh37]
benign|likely benign
NC_012920.1(MT-CO1):m.6120A>G single nucleotide variant Leigh syndrome [RCV000853940]|not provided [RCV000224535] ChrMT:6120 [GRCh38]
ChrMT:6120 [GRCh37]
uncertain significance
NC_012920.1:m.6719T>C single nucleotide variant not provided [RCV000224575] ChrMT:6719 [GRCh38]
ChrMT:6719 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.7175T>C single nucleotide variant not provided [RCV000224796] ChrMT:7175 [GRCh38]
ChrMT:7175 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6260G>A single nucleotide variant not provided [RCV000224938] ChrMT:6260 [GRCh38]
ChrMT:6260 [GRCh37]
benign|likely benign
NC_012920.1:m.6054G>A single nucleotide variant not provided [RCV000757479] ChrMT:6054 [GRCh38]
ChrMT:6054 [GRCh37]
uncertain significance
NC_012920.1:m.7373A>G single nucleotide variant Optic atrophy [RCV000408931] ChrMT:7373 [GRCh38]
ChrMT:7373 [GRCh37]
uncertain significance
NC_012920.1:m.6674T>C single nucleotide variant not provided [RCV000419942] ChrMT:6674 [GRCh38]
ChrMT:6674 [GRCh37]
likely benign
NC_012920.1:m.6299A>G single nucleotide variant not provided [RCV000431599] ChrMT:6299 [GRCh38]
ChrMT:6299 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7041G>A single nucleotide variant Leigh syndrome [RCV000854018]|Mitochondrial DNA-related disorder [RCV000509198] ChrMT:7041 [GRCh38]
ChrMT:7041 [GRCh37]
uncertain significance|not provided
NC_012920.1(MT-TS1):m.6005_11222del deletion Mitochondrial disease [RCV000495067] ChrMT:6003..11220 [GRCh38]
ChrMT:6003..11220 [GRCh37]
pathogenic
NC_012920.1(MT-TS2):m.6470_15588del deletion Mitochondrial disease [RCV000495334] ChrMT:6468..15586 [GRCh38]
ChrMT:6468..15586 [GRCh37]
pathogenic
NC_012920.1(MT-TS2):m.7129_13991del deletion Mitochondrial disease [RCV000495692] ChrMT:7126..13988 [GRCh38]
ChrMT:7126..13988 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1:m.6278T>C single nucleotide variant not provided [RCV000514880] ChrMT:6278 [GRCh38]
ChrMT:6278 [GRCh37]
likely benign
NC_012920.1:m.7220T>C single nucleotide variant not provided [RCV000514824] ChrMT:7220 [GRCh38]
ChrMT:7220 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.5954del deletion Tetralogy of Fallot [RCV000722081] ChrMT:5954 [GRCh38]
ChrMT:5954 [GRCh37]
pathogenic
NC_012920.1:m.6809_6810insAAG insertion Abnormal aortic valve physiology [RCV000722082] ChrMT:6809..6810 [GRCh38]
ChrMT:6809..6810 [GRCh37]
likely pathogenic
NC_012920.1:m.6906_6907insCCT insertion Abnormal aortic valve physiology [RCV000722083] ChrMT:6905..6906 [GRCh38]
ChrMT:6905..6906 [GRCh37]
likely pathogenic
NC_012920.1:m.6887_6888insGGG insertion Tetralogy of Fallot [RCV000722084] ChrMT:6887..6888 [GRCh38]
ChrMT:6887..6888 [GRCh37]
likely pathogenic
NC_012920.1(MT-CO1):m.6817del deletion Abnormal aortic valve physiology [RCV000722080] ChrMT:6815 [GRCh38]
ChrMT:6815 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6936del deletion Abnormal aortic valve physiology [RCV000721138] ChrMT:6936 [GRCh38]
ChrMT:6936 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6902del deletion Tetralogy of Fallot [RCV000721137] ChrMT:6900 [GRCh38]
ChrMT:6900 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6018G>A single nucleotide variant Leigh syndrome [RCV000853926] ChrMT:6018 [GRCh38]
ChrMT:6018 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6040A>G single nucleotide variant Leigh syndrome [RCV000853928] ChrMT:6040 [GRCh38]
ChrMT:6040 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6048G>A single nucleotide variant Leigh syndrome [RCV000853929] ChrMT:6048 [GRCh38]
ChrMT:6048 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6072A>G single nucleotide variant Leigh syndrome [RCV000853934] ChrMT:6072 [GRCh38]
ChrMT:6072 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6126A>G single nucleotide variant Leigh syndrome [RCV000853942] ChrMT:6126 [GRCh38]
ChrMT:6126 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6228C>T single nucleotide variant Leigh syndrome [RCV000853947] ChrMT:6228 [GRCh38]
ChrMT:6228 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6249G>A single nucleotide variant Leigh syndrome [RCV000853949] ChrMT:6249 [GRCh38]
ChrMT:6249 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6273A>G single nucleotide variant Leigh syndrome [RCV000853956] ChrMT:6273 [GRCh38]
ChrMT:6273 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6285G>A single nucleotide variant Leigh syndrome [RCV000853957] ChrMT:6285 [GRCh38]
ChrMT:6285 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6289A>G single nucleotide variant Leigh syndrome [RCV000853959] ChrMT:6289 [GRCh38]
ChrMT:6289 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6340C>T single nucleotide variant Leigh syndrome [RCV000853963] ChrMT:6340 [GRCh38]
ChrMT:6340 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6367T>C single nucleotide variant Leigh syndrome [RCV000853968] ChrMT:6367 [GRCh38]
ChrMT:6367 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6504G>A single nucleotide variant Leigh syndrome [RCV000853977] ChrMT:6504 [GRCh38]
ChrMT:6504 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6546C>T single nucleotide variant Leigh syndrome [RCV000853982] ChrMT:6546 [GRCh38]
ChrMT:6546 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6564G>A single nucleotide variant Leigh syndrome [RCV000853984] ChrMT:6564 [GRCh38]
ChrMT:6564 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6709G>A single nucleotide variant Leigh syndrome [RCV000853990] ChrMT:6709 [GRCh38]
ChrMT:6709 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6712A>T single nucleotide variant Leigh syndrome [RCV000853991] ChrMT:6712 [GRCh38]
ChrMT:6712 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6748T>C single nucleotide variant Leigh syndrome [RCV000853995] ChrMT:6748 [GRCh38]
ChrMT:6748 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6844T>C single nucleotide variant Leigh syndrome [RCV000853998] ChrMT:6844 [GRCh38]
ChrMT:6844 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6855G>A single nucleotide variant Leigh syndrome [RCV000854000] ChrMT:6855 [GRCh38]
ChrMT:6855 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6856T>C single nucleotide variant Leigh syndrome [RCV000854001] ChrMT:6856 [GRCh38]
ChrMT:6856 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6912G>A single nucleotide variant Leigh syndrome [RCV000854007] ChrMT:6912 [GRCh38]
ChrMT:6912 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6978G>A single nucleotide variant Leigh syndrome [RCV000854013] ChrMT:6978 [GRCh38]
ChrMT:6978 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6987T>G single nucleotide variant Leigh syndrome [RCV000854014] ChrMT:6987 [GRCh38]
ChrMT:6987 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7051T>C single nucleotide variant Leigh syndrome [RCV000854019] ChrMT:7051 [GRCh38]
ChrMT:7051 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.7083A>G single nucleotide variant Leigh syndrome [RCV000854023] ChrMT:7083 [GRCh38]
ChrMT:7083 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.7146_7147inv inversion Leigh syndrome [RCV000854030] ChrMT:7146..7147 [GRCh38]
ChrMT:7146..7147 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7147C>T single nucleotide variant Leigh syndrome [RCV000854031] ChrMT:7147 [GRCh38]
ChrMT:7147 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7149A>G single nucleotide variant Leigh syndrome [RCV000854032] ChrMT:7149 [GRCh38]
ChrMT:7149 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.7150T>C single nucleotide variant Leigh syndrome [RCV000854033] ChrMT:7150 [GRCh38]
ChrMT:7150 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7153T>C single nucleotide variant Leigh syndrome [RCV000854034] ChrMT:7153 [GRCh38]
ChrMT:7153 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7159T>C single nucleotide variant Leigh syndrome [RCV000854038] ChrMT:7159 [GRCh38]
ChrMT:7159 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.7300T>C single nucleotide variant Leigh syndrome [RCV000854056] ChrMT:7300 [GRCh38]
ChrMT:7300 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7332G>A single nucleotide variant Leigh syndrome [RCV000854058] ChrMT:7332 [GRCh38]
ChrMT:7332 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7356G>A single nucleotide variant Leigh syndrome [RCV000854060] ChrMT:7356 [GRCh38]
ChrMT:7356 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7389T>C single nucleotide variant Leigh syndrome [RCV000854066] ChrMT:7389 [GRCh38]
ChrMT:7389 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6713C>T single nucleotide variant not provided [RCV000992340] ChrMT:6713 [GRCh38]
ChrMT:6713 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6927del deletion Abnormal aortic valve physiology [RCV000768653]|Tetralogy of Fallot [RCV000768564] ChrMT:6925 [GRCh38]
ChrMT:6925 [GRCh37]
pathogenic
NC_012920.1(MT-TS1):m.7445A>T single nucleotide variant Mitochondrial non-syndromic sensorineural hearing loss [RCV000778058] ChrMT:7445 [GRCh38]
ChrMT:7445 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6608del deletion Abnormal mitral valve physiology [RCV000770892] ChrMT:6608 [GRCh38]
ChrMT:6608 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6674del deletion Abnormal mitral valve physiology [RCV000770893] ChrMT:6673 [GRCh38]
ChrMT:6673 [GRCh37]
likely pathogenic
NC_012920.1:m.6743_6744insTGG insertion Abnormal mitral valve physiology [RCV000770898] ChrMT:6743..6744 [GRCh38]
ChrMT:6743..6744 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6750del deletion Abnormal mitral valve physiology [RCV000770901] ChrMT:6749 [GRCh38]
ChrMT:6749 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6860del deletion Abnormal aortic valve physiology [RCV000768654] ChrMT:6858 [GRCh38]
ChrMT:6858 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6941del deletion Tetralogy of Fallot [RCV000767873] ChrMT:6939 [GRCh38]
ChrMT:6939 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6698del deletion Abnormal mitral valve physiology [RCV000770894] ChrMT:6692 [GRCh38]
ChrMT:6692 [GRCh37]
pathogenic
NC_012920.1:m.6688_6689insACC insertion Abnormal mitral valve physiology [RCV000770895] ChrMT:6687..6688 [GRCh38]
ChrMT:6687..6688 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.5918T>C single nucleotide variant not provided [RCV000992334] ChrMT:5918 [GRCh38]
ChrMT:5918 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6026G>A single nucleotide variant not provided [RCV000992335] ChrMT:6026 [GRCh38]
ChrMT:6026 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6626T>C single nucleotide variant not provided [RCV000992338] ChrMT:6626 [GRCh38]
ChrMT:6626 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6671T>C single nucleotide variant not provided [RCV000992339] ChrMT:6671 [GRCh38]
ChrMT:6671 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6896T>C single nucleotide variant not provided [RCV000992342] ChrMT:6896 [GRCh38]
ChrMT:6896 [GRCh37]
likely benign
NC_012920.1:m.6717_6718insGGG insertion Abnormal aortic valve physiology [RCV000782123] ChrMT:6716..6717 [GRCh38]
ChrMT:6716..6717 [GRCh37]
pathogenic
NC_012920.1(MT-CO1):m.6899G>C single nucleotide variant not provided [RCV000992343] ChrMT:6899 [GRCh38]
ChrMT:6899 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7274C>T single nucleotide variant not provided [RCV000992348] ChrMT:7274 [GRCh38]
ChrMT:7274 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6446G>A single nucleotide variant not provided [RCV000992337] ChrMT:6446 [GRCh38]
ChrMT:6446 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6776T>C single nucleotide variant not provided [RCV000992341] ChrMT:6776 [GRCh38]
ChrMT:6776 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6911T>C single nucleotide variant not provided [RCV000992344] ChrMT:6911 [GRCh38]
ChrMT:6911 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6353A>G single nucleotide variant not provided [RCV000992336] ChrMT:6353 [GRCh38]
ChrMT:6353 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7013G>A single nucleotide variant not provided [RCV000992346] ChrMT:7013 [GRCh38]
ChrMT:7013 [GRCh37]
benign
NC_012920.1(MT-CO1):m.5910G>A single nucleotide variant Leigh syndrome [RCV000853918] ChrMT:5910 [GRCh38]
ChrMT:5910 [GRCh37]
benign
NC_012920.1(MT-CO1):m.5979G>A single nucleotide variant Leigh syndrome [RCV000853923] ChrMT:5979 [GRCh38]
ChrMT:5979 [GRCh37]
benign
NC_012920.1(MT-CO1):m.5985G>A single nucleotide variant Leigh syndrome [RCV000853924] ChrMT:5985 [GRCh38]
ChrMT:5985 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6012A>G single nucleotide variant Leigh syndrome [RCV000853925] ChrMT:6012 [GRCh38]
ChrMT:6012 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6075G>A single nucleotide variant Leigh syndrome [RCV000853935] ChrMT:6075 [GRCh38]
ChrMT:6075 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6307A>G single nucleotide variant Leigh syndrome [RCV000853960] ChrMT:6307 [GRCh38]
ChrMT:6307 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6445C>T single nucleotide variant Leigh syndrome [RCV000853971] ChrMT:6445 [GRCh38]
ChrMT:6445 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6465G>A single nucleotide variant Leigh syndrome [RCV000853973] ChrMT:6465 [GRCh38]
ChrMT:6465 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6681T>C single nucleotide variant Leigh syndrome [RCV000853989] ChrMT:6681 [GRCh38]
ChrMT:6681 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6781T>C single nucleotide variant Leigh syndrome [RCV000853997]|not provided [RCV004697012] ChrMT:6781 [GRCh38]
ChrMT:6781 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6876G>A single nucleotide variant Leigh syndrome [RCV000854003] ChrMT:6876 [GRCh38]
ChrMT:6876 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6951G>A single nucleotide variant Leigh syndrome [RCV000854011]|Mitochondrial disease [RCV003319214]|not provided [RCV000992345] ChrMT:6951 [GRCh38]
ChrMT:6951 [GRCh37]
likely benign|uncertain significance
NC_012920.1(MT-CO1):m.7084T>C single nucleotide variant Leigh syndrome [RCV000854024] ChrMT:7084 [GRCh38]
ChrMT:7084 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7155T>C single nucleotide variant Leigh syndrome [RCV000854035] ChrMT:7155 [GRCh38]
ChrMT:7155 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7158A>C single nucleotide variant Leigh syndrome [RCV000854037] ChrMT:7158 [GRCh38]
ChrMT:7158 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.7191T>C single nucleotide variant Leigh syndrome [RCV000854041]|not provided [RCV001824895] ChrMT:7191 [GRCh38]
ChrMT:7191 [GRCh37]
likely benign|not provided
NC_012920.1(MT-CO1):m.7222A>G single nucleotide variant Mitochondrial myopathy with reversible cytochrome C oxidase deficiency [RCV000854042] ChrMT:7222 [GRCh38]
ChrMT:7222 [GRCh37]
likely pathogenic
NC_012920.1(MT-CO1):m.7233C>T single nucleotide variant Leigh syndrome [RCV000854043] ChrMT:7233 [GRCh38]
ChrMT:7233 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7270T>C single nucleotide variant Leigh syndrome [RCV000854049] ChrMT:7270 [GRCh38]
ChrMT:7270 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7440T>G single nucleotide variant Leigh syndrome [RCV000854072] ChrMT:7440 [GRCh38]
ChrMT:7440 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.5907T>C single nucleotide variant Leigh syndrome [RCV000853917] ChrMT:5907 [GRCh38]
ChrMT:5907 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6052A>G single nucleotide variant Leigh syndrome [RCV000853930] ChrMT:6052 [GRCh38]
ChrMT:6052 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6253T>C single nucleotide variant Leigh syndrome [RCV000853951] ChrMT:6253 [GRCh38]
ChrMT:6253 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6258G>A single nucleotide variant Leigh syndrome [RCV000853952] ChrMT:6258 [GRCh38]
ChrMT:6258 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6324G>A single nucleotide variant Leigh syndrome [RCV000853961] ChrMT:6324 [GRCh38]
ChrMT:6324 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6366G>A single nucleotide variant Leigh syndrome [RCV000853966] ChrMT:6366 [GRCh38]
ChrMT:6366 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6393T>C single nucleotide variant Leigh syndrome [RCV000853969] ChrMT:6393 [GRCh38]
ChrMT:6393 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6505T>C single nucleotide variant Leigh syndrome [RCV000853978] ChrMT:6505 [GRCh38]
ChrMT:6505 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6510G>A single nucleotide variant Leigh syndrome [RCV000853979] ChrMT:6510 [GRCh38]
ChrMT:6510 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6550A>G single nucleotide variant Leigh syndrome [RCV000853983] ChrMT:6550 [GRCh38]
ChrMT:6550 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6570G>T single nucleotide variant Leigh syndrome [RCV000853985] ChrMT:6570 [GRCh38]
ChrMT:6570 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6642A>G single nucleotide variant Leigh syndrome [RCV000853986] ChrMT:6642 [GRCh38]
ChrMT:6642 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6663A>G single nucleotide variant Leigh syndrome [RCV000853987] ChrMT:6663 [GRCh38]
ChrMT:6663 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6714A>G single nucleotide variant Leigh syndrome [RCV000853992] ChrMT:6714 [GRCh38]
ChrMT:6714 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6723G>A single nucleotide variant Leigh syndrome [RCV000853993] ChrMT:6723 [GRCh38]
ChrMT:6723 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7020G>A single nucleotide variant Leigh syndrome [RCV000854016] ChrMT:7020 [GRCh38]
ChrMT:7020 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7080T>C single nucleotide variant Leigh syndrome [RCV000854022] ChrMT:7080 [GRCh38]
ChrMT:7080 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7125A>G single nucleotide variant Leigh syndrome [RCV000854026] ChrMT:7125 [GRCh38]
ChrMT:7125 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7129A>G single nucleotide variant Leigh syndrome [RCV000854027] ChrMT:7129 [GRCh38]
ChrMT:7129 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.7146A>G single nucleotide variant Leigh syndrome [RCV000854029] ChrMT:7146 [GRCh38]
ChrMT:7146 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7158A>G single nucleotide variant Leigh syndrome [RCV000854036] ChrMT:7158 [GRCh38]
ChrMT:7158 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7258T>C single nucleotide variant Leigh syndrome [RCV000854047] ChrMT:7258 [GRCh38]
ChrMT:7258 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7272G>A single nucleotide variant Leigh syndrome [RCV000854050] ChrMT:7272 [GRCh38]
ChrMT:7272 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7357T>C single nucleotide variant Leigh syndrome [RCV000854061] ChrMT:7357 [GRCh38]
ChrMT:7357 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7363A>G single nucleotide variant Leigh syndrome [RCV000854063] ChrMT:7363 [GRCh38]
ChrMT:7363 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.7432A>T single nucleotide variant Leigh syndrome [RCV000854070] ChrMT:7432 [GRCh38]
ChrMT:7432 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.7440T>C single nucleotide variant Leigh syndrome [RCV000854071] ChrMT:7440 [GRCh38]
ChrMT:7440 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6037G>A single nucleotide variant Leigh syndrome [RCV000853927] ChrMT:6037 [GRCh38]
ChrMT:6037 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6060A>C single nucleotide variant Leigh syndrome [RCV000853931] ChrMT:6060 [GRCh38]
ChrMT:6060 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6060A>G single nucleotide variant Leigh syndrome [RCV000853932] ChrMT:6060 [GRCh38]
ChrMT:6060 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6145G>A single nucleotide variant Mitochondrial myopathy with reversible cytochrome C oxidase deficiency [RCV000853944] ChrMT:6145 [GRCh38]
ChrMT:6145 [GRCh37]
likely pathogenic
NC_012920.1(MT-CO1):m.6150G>A single nucleotide variant Leigh syndrome [RCV000853945] ChrMT:6150 [GRCh38]
ChrMT:6150 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6237C>A single nucleotide variant Leigh syndrome [RCV000853948] ChrMT:6237 [GRCh38]
ChrMT:6237 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6286T>C single nucleotide variant Leigh syndrome [RCV000853958] ChrMT:6286 [GRCh38]
ChrMT:6286 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6345T>C single nucleotide variant Leigh syndrome [RCV000853964] ChrMT:6345 [GRCh38]
ChrMT:6345 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6366G>C single nucleotide variant Leigh syndrome [RCV000853967] ChrMT:6366 [GRCh38]
ChrMT:6366 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6420C>A single nucleotide variant Leigh syndrome [RCV000853970] ChrMT:6420 [GRCh38]
ChrMT:6420 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6456G>A single nucleotide variant Leigh syndrome [RCV000853972] ChrMT:6456 [GRCh38]
ChrMT:6456 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6664T>C single nucleotide variant Leigh syndrome [RCV000853988] ChrMT:6664 [GRCh38]
ChrMT:6664 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6747T>C single nucleotide variant Leigh syndrome [RCV000853994] ChrMT:6747 [GRCh38]
ChrMT:6747 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6756T>C single nucleotide variant Leigh syndrome [RCV000853996] ChrMT:6756 [GRCh38]
ChrMT:6756 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6891A>G single nucleotide variant Leigh syndrome [RCV000854004] ChrMT:6891 [GRCh38]
ChrMT:6891 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6972G>C single nucleotide variant Leigh syndrome [RCV000854012] ChrMT:6972 [GRCh38]
ChrMT:6972 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7077G>A single nucleotide variant Leigh syndrome [RCV000854021] ChrMT:7077 [GRCh38]
ChrMT:7077 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7119G>A single nucleotide variant Leigh syndrome [RCV000854025] ChrMT:7119 [GRCh38]
ChrMT:7119 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7187A>T single nucleotide variant Leigh syndrome [RCV000854040] ChrMT:7187 [GRCh38]
ChrMT:7187 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7245A>G single nucleotide variant Leigh syndrome [RCV000854044] ChrMT:7245 [GRCh38]
ChrMT:7245 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7278T>C single nucleotide variant Leigh syndrome [RCV000854051] ChrMT:7278 [GRCh38]
ChrMT:7278 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7279T>C single nucleotide variant Leigh syndrome [RCV000854052] ChrMT:7279 [GRCh38]
ChrMT:7279 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7362G>A single nucleotide variant Leigh syndrome [RCV000854062] ChrMT:7362 [GRCh38]
ChrMT:7362 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7431T>C single nucleotide variant Leigh syndrome [RCV000854069] ChrMT:7431 [GRCh38]
ChrMT:7431 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.5911C>T single nucleotide variant Leigh syndrome [RCV000853919] ChrMT:5911 [GRCh38]
ChrMT:5911 [GRCh37]
benign
NC_012920.1(MT-CO1):m.5913G>A single nucleotide variant Leigh syndrome [RCV000853920]|not specified [RCV001288242] ChrMT:5913 [GRCh38]
ChrMT:5913 [GRCh37]
benign
NC_012920.1(MT-CO1):m.5961C>A single nucleotide variant Leigh syndrome [RCV000853921] ChrMT:5961 [GRCh38]
ChrMT:5961 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.5973G>A single nucleotide variant Leigh syndrome [RCV000853922] ChrMT:5973 [GRCh38]
ChrMT:5973 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6081G>T single nucleotide variant Leigh syndrome [RCV000853937] ChrMT:6081 [GRCh38]
ChrMT:6081 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6109T>C single nucleotide variant Leigh syndrome [RCV000853939] ChrMT:6109 [GRCh38]
ChrMT:6109 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6132G>A single nucleotide variant Leigh syndrome [RCV000853943] ChrMT:6132 [GRCh38]
ChrMT:6132 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6252A>G single nucleotide variant Leigh syndrome [RCV000853950] ChrMT:6252 [GRCh38]
ChrMT:6252 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6267G>A single nucleotide variant Leigh syndrome [RCV000853955] ChrMT:6267 [GRCh38]
ChrMT:6267 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6339A>G single nucleotide variant Leigh syndrome [RCV000853962] ChrMT:6339 [GRCh38]
ChrMT:6339 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6358T>C single nucleotide variant Leigh syndrome [RCV000853965] ChrMT:6358 [GRCh38]
ChrMT:6358 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6481T>C single nucleotide variant Leigh syndrome [RCV000853975] ChrMT:6481 [GRCh38]
ChrMT:6481 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6868G>A single nucleotide variant Leigh syndrome [RCV000854002] ChrMT:6868 [GRCh38]
ChrMT:6868 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6897A>G single nucleotide variant Leigh syndrome [RCV000854005] ChrMT:6897 [GRCh38]
ChrMT:6897 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6909G>A single nucleotide variant Leigh syndrome [RCV000854006] ChrMT:6909 [GRCh38]
ChrMT:6909 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6924G>A single nucleotide variant Leigh syndrome [RCV000854010] ChrMT:6924 [GRCh38]
ChrMT:6924 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7032T>C single nucleotide variant Leigh syndrome [RCV000854017] ChrMT:7032 [GRCh38]
ChrMT:7032 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7053G>A single nucleotide variant Leigh syndrome [RCV000854020] ChrMT:7053 [GRCh38]
ChrMT:7053 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7138T>C single nucleotide variant Leigh syndrome [RCV000854028] ChrMT:7138 [GRCh38]
ChrMT:7138 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7168A>G single nucleotide variant Leigh syndrome [RCV000854039] ChrMT:7168 [GRCh38]
ChrMT:7168 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7299A>G single nucleotide variant Leigh syndrome [RCV000854055] ChrMT:7299 [GRCh38]
ChrMT:7299 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7309T>C single nucleotide variant Leigh syndrome [RCV000854057] ChrMT:7309 [GRCh38]
ChrMT:7309 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7408A>G single nucleotide variant Leigh syndrome [RCV000854067] ChrMT:7408 [GRCh38]
ChrMT:7408 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6061T>C single nucleotide variant Leigh syndrome [RCV000853933] ChrMT:6061 [GRCh38]
ChrMT:6061 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6081G>A single nucleotide variant Leigh syndrome [RCV000853936] ChrMT:6081 [GRCh38]
ChrMT:6081 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.6093G>A single nucleotide variant Leigh syndrome [RCV000853938] ChrMT:6093 [GRCh38]
ChrMT:6093 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6121T>C single nucleotide variant Leigh syndrome [RCV000853941] ChrMT:6121 [GRCh38]
ChrMT:6121 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6174G>A single nucleotide variant Leigh syndrome [RCV000853946] ChrMT:6174 [GRCh38]
ChrMT:6174 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6520T>C single nucleotide variant Leigh syndrome [RCV000853980] ChrMT:6520 [GRCh38]
ChrMT:6520 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6526T>C single nucleotide variant Leigh syndrome [RCV000853981] ChrMT:6526 [GRCh38]
ChrMT:6526 [GRCh37]
likely pathogenic
NC_012920.1(MT-CO1):m.6852G>A single nucleotide variant Leigh syndrome [RCV000853999] ChrMT:6852 [GRCh38]
ChrMT:6852 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6915G>A single nucleotide variant Leigh syndrome [RCV000854008] ChrMT:6915 [GRCh38]
ChrMT:6915 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6916T>C single nucleotide variant Leigh syndrome [RCV000854009] ChrMT:6916 [GRCh38]
ChrMT:6916 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7015A>G single nucleotide variant Leigh syndrome [RCV000854015] ChrMT:7015 [GRCh38]
ChrMT:7015 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7249C>T single nucleotide variant Leigh syndrome [RCV000854045] ChrMT:7249 [GRCh38]
ChrMT:7249 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7257A>G single nucleotide variant Leigh syndrome [RCV000854046] ChrMT:7257 [GRCh38]
ChrMT:7257 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7269G>A single nucleotide variant Leigh syndrome [RCV000854048] ChrMT:7269 [GRCh38]
ChrMT:7269 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7284T>G single nucleotide variant Leigh syndrome [RCV000854053] ChrMT:7284 [GRCh38]
ChrMT:7284 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7290A>G single nucleotide variant Leigh syndrome [RCV000854054] ChrMT:7290 [GRCh38]
ChrMT:7290 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7347G>A single nucleotide variant Leigh syndrome [RCV000854059] ChrMT:7347 [GRCh38]
ChrMT:7347 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7365C>A single nucleotide variant Leigh syndrome [RCV000854064] ChrMT:7365 [GRCh38]
ChrMT:7365 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7374A>G single nucleotide variant Leigh syndrome [RCV000854065] ChrMT:7374 [GRCh38]
ChrMT:7374 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7419G>A single nucleotide variant Leigh syndrome [RCV000854068] ChrMT:7419 [GRCh38]
ChrMT:7419 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7196C>A single nucleotide variant not provided [RCV000992347] ChrMT:7196 [GRCh38]
ChrMT:7196 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6047A>G single nucleotide variant not specified [RCV001288244] ChrMT:6047 [GRCh38]
ChrMT:6047 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6497T>C single nucleotide variant not specified [RCV001288246] ChrMT:6497 [GRCh38]
ChrMT:6497 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6254A>G single nucleotide variant not provided [RCV001288245] ChrMT:6254 [GRCh38]
ChrMT:6254 [GRCh37]
likely benign
NC_012920.1(MT-CO1):m.5999T>C single nucleotide variant not specified [RCV001288243] ChrMT:5999 [GRCh38]
ChrMT:5999 [GRCh37]
benign
NC_012920.1(MT-CO1):m.7023G>A single nucleotide variant MELAS syndrome [RCV003334065]|not specified [RCV002247996] ChrMT:7023 [GRCh38]
ChrMT:7023 [GRCh37]
uncertain significance|not provided
NC_012920.1(MT-CO1):m.7092T>C single nucleotide variant Mitochondrial disease [RCV001796952] ChrMT:7092 [GRCh38]
ChrMT:7092 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7028C>T single nucleotide variant Mitochondrial disease [RCV002221702] ChrMT:7028 [GRCh38]
ChrMT:7028 [GRCh37]
benign
NC_012920.1(MT-CO1):m.6243G>A single nucleotide variant not provided [RCV002790052] ChrMT:6243 [GRCh38]
ChrMT:6243 [GRCh37]
not provided
NC_012920.1(MT-ATP6):m.8993T>G single nucleotide variant Cerebellar ataxia [RCV000191106]|Hypertelorism [RCV000414771]|Leber optic atrophy [RCV001542706]|Leigh syndrome [RCV000010273]|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 [RCV000754646]|Mitochondrial disease [RCV000495419]|NARP syndrome [RCV000010274]|Rod-cone dystrophy [RCV001376274]|not provided [RCV000224643]|not specified [RCV002285006] ChrMT:8993 [GRCh38]
ChrMT:8993 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1(MT-ND1):m.3946G>A single nucleotide variant Leber optic atrophy [RCV001542704]|Leigh syndrome [RCV000853718]|MELAS syndrome [RCV000010387] ChrMT:3946 [GRCh38]
ChrMT:3946 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1(MT-CO1):m.6217T>C single nucleotide variant not provided [RCV004697812] ChrMT:6217 [GRCh38]
ChrMT:6217 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.6423C>T single nucleotide variant not provided [RCV004697813] ChrMT:6423 [GRCh38]
ChrMT:6423 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7348T>C single nucleotide variant not provided [RCV004697814] ChrMT:7348 [GRCh38]
ChrMT:7348 [GRCh37]
uncertain significance
NC_012920.1(MT-CO1):m.7375A>G single nucleotide variant not provided [RCV004697815] ChrMT:7375 [GRCh38]
ChrMT:7375 [GRCh37]
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:127
Count of miRNA genes:120
Interacting mature miRNAs:125
Transcripts:ENST00000361624
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH98513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371567,937 - 568,064UniSTSGRCh37
GRCh37MT7,386 - 7,513UniSTSGRCh37
Build 361557,800 - 557,927RGDNCBI36
Cytogenetic Map5q35.2UniSTS
HuRef14,191 - 4,318UniSTS
D17S813E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371567,717 - 567,912UniSTSGRCh37
GRCh37MT7,166 - 7,361UniSTSGRCh37
Build 361557,580 - 557,775RGDNCBI36
Cytogenetic Map5q35.2UniSTS
HuRef13,971 - 4,166UniSTS
D1S2077E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,241 - 568,324UniSTSGRCh37
GRCh37MT7,690 - 7,773UniSTSGRCh37
Build 361558,104 - 558,187RGDNCBI36
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map11q13UniSTS
HuRef14,495 - 4,578UniSTS
PMC113853P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT4,481 - 5,456UniSTSGRCh37
GRCh371565,031 - 566,006UniSTSGRCh37
Build 361554,894 - 555,869RGDNCBI36
HuRef11,286 - 2,261UniSTS
PMC20756P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,483 - 7,570UniSTSGRCh37
GRCh371568,034 - 568,121UniSTSGRCh37
Build 361557,897 - 557,984RGDNCBI36
HuRef14,288 - 4,375UniSTS
PMC20756P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,125 - 7,672UniSTSGRCh37
GRCh371567,676 - 568,223UniSTSGRCh37
Build 361557,539 - 558,086RGDNCBI36
HuRef13,930 - 4,477UniSTS
PMC55343P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT4,189 - 4,813UniSTSGRCh37
GRCh371564,739 - 565,363UniSTSGRCh37
Build 361554,602 - 555,226RGDNCBI36
HuRef1994 - 1,618UniSTS
PMC55343P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT6,318 - 6,918UniSTSGRCh37
GRCh371566,868 - 567,469UniSTSGRCh37
Build 361556,731 - 557,332RGDNCBI36
HuRef13,123 - 3,723UniSTS
PMC55343P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,358 - 7,937UniSTSGRCh37
GRCh371567,909 - 568,488UniSTSGRCh37
Build 361557,772 - 558,351RGDNCBI36
HuRef14,163 - 4,742UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
GenBank Nucleotide J01415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000361624   ⟹   ENSP00000354499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblMT5,904 - 7,445 (+)Ensembl
Protein Sequences
Protein RefSeqs YP_003024028 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58945 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354499
  ENSP00000354499.2
GenBank Protein P00395 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Acc Id: ENSP00000354499   ⟸   ENST00000361624
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00395-F1-model_v2 AlphaFold P00395 1-513 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7419 AgrOrtholog
COSMIC MT-CO1 COSMIC
Ensembl Genes ENSG00000198804 Ensembl, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361624.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.210.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198804 GTEx
HGNC ID HGNC:7419 ENTREZGENE
Human Proteome Map MT-CO1 Human Proteome Map
InterPro Cyt_c_oxase-like_su1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxase-like_su1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_C_Oxase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_Oxase_su1_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxase_su1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4512 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4512 ENTREZGENE
OMIM 516030 OMIM
PANTHER CYTOCHROME C OXIDASE SUBUNIT 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10422 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COX1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31225 PharmGKB
PRINTS CYCOXIDASEI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE COX1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COX1_CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81442 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A068C201 ENTREZGENE, UniProtKB/TrEMBL
  A0A1J0QWW6 ENTREZGENE, UniProtKB/TrEMBL
  A0A1X7RBG2 ENTREZGENE
  A0A343G377 ENTREZGENE, UniProtKB/TrEMBL
  A0S1I7 ENTREZGENE, UniProtKB/TrEMBL
  A1DSF3 ENTREZGENE, UniProtKB/TrEMBL
  A6YV28 ENTREZGENE, UniProtKB/TrEMBL
  A6YYA4 ENTREZGENE, UniProtKB/TrEMBL
  A6YYY8 ENTREZGENE, UniProtKB/TrEMBL
  A6Z6C1 ENTREZGENE, UniProtKB/TrEMBL
  A6ZFK2 ENTREZGENE, UniProtKB/TrEMBL
  B1NTV9 ENTREZGENE, UniProtKB/TrEMBL
  B3GSQ2 ENTREZGENE, UniProtKB/TrEMBL
  B4F437 ENTREZGENE
  COX1_HUMAN UniProtKB/Swiss-Prot
  E7E4V8 ENTREZGENE, UniProtKB/TrEMBL
  F2WJ44 ENTREZGENE, UniProtKB/TrEMBL
  P00395 ENTREZGENE
  Q34770 ENTREZGENE
  Q4F1M8 ENTREZGENE, UniProtKB/TrEMBL
  Q4GIJ5 ENTREZGENE, UniProtKB/TrEMBL
  Q4VFI9 ENTREZGENE, UniProtKB/TrEMBL
  Q5S9T0 ENTREZGENE, UniProtKB/TrEMBL
  Q6RMP2 ENTREZGENE, UniProtKB/TrEMBL
  Q9B2V2 ENTREZGENE, UniProtKB/TrEMBL
  U5YWV7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A1X7RBG2 UniProtKB/TrEMBL
  Q34770 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-05-19 MT-CO1  mitochondrially encoded cytochrome c oxidase I  COX1    Symbol and/or name change 5135510 APPROVED
2014-01-07 COX1  mitochondrially encoded cytochrome c oxidase I  MT-COI    Symbol and/or name change 5135510 APPROVED
2012-10-09 MT-COI  mitochondrially encoded cytochrome c oxidase I  COX1    Symbol and/or name change 5135510 APPROVED
2012-07-13 COX1    MT-COI  mitochondrially encoded cytochrome c oxidase I  Symbol and/or name change 5135510 APPROVED