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
Description: Contributes to cytochrome-c oxidase activity. Predicted to be involved in electron transport coupled proton transport and mitochondrial electron transport, cytochrome c to oxygen. Localizes to mitochondrial respiratory chain complex III and mitochondrial respiratory chain complex IV; PARTICIPATES IN electron transport chain pathway; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one; 5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid.
Type: protein-coding
RefSeq Status: PROVISIONAL
Also known as: COI; cytochrome c oxidase subunit I; MTCO1
RGD Orthologs
Mouse
Rat
Dog
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblMT5,904 - 7,445 (+)EnsemblGRCh38hg38GRCh38
GRCh38MT5,904 - 7,445 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37MT5,904 - 7,445 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT5,905 - 7,446 (+)NCBINCBI36hg18NCBI36


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)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid  (EXP,ISO)
7,12-dimethyltetraphene  (ISO)
acetylsalicylic acid  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
Aflatoxin G1  (EXP)
Aflatoxin G2  (EXP)
aldehydo-D-glucose  (ISO)
alpha-D-galactose  (ISO)
alpha-hexachlorocyclohexane  (ISO)
aminoguanidine  (ISO)
atorvastatin calcium  (ISO)
atrazine  (EXP,ISO)
beauvericin  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
cadmium atom  (ISO)
calcitriol  (ISO)
carbon nanotube  (ISO)
chloramphenicol  (EXP)
chlorogenic acid  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
D-glucose  (ISO)
dehydroepiandrosterone  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (ISO)
dioxygen  (ISO)
disodium selenite  (ISO)
disulfiram  (ISO)
doxorubicin  (EXP,ISO)
enniatin  (EXP)
ethidium  (EXP)
folic acid  (ISO)
galactose  (ISO)
genistein  (EXP,ISO)
glucose  (ISO)
herbicide  (ISO)
hydrogen peroxide  (ISO)
hydroxytyrosol  (ISO)
lamivudine  (ISO)
lead nitrate  (ISO)
LY294002  (ISO)
malathion  (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)
nicotine  (ISO)
nitric oxide  (ISO)
O-acetyl-L-carnitine  (ISO)
Osajin  (EXP)
perfluorooctanoic acid  (ISO)
PhIP  (ISO)
picloram  (ISO)
pirinixic acid  (ISO)
Pomiferin  (EXP)
puerarin  (EXP,ISO)
pyrroloquinoline quinone  (EXP)
pyruvic acid  (ISO)
quercetin  (ISO)
resveratrol  (EXP)
Rosavin  (EXP)
rotenone  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sodium hydrogensulfite  (ISO)
sulforaphane  (ISO)
sulfur dioxide  (ISO)
sunitinib  (ISO)
T-2 toxin  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
tofacitinib  (EXP)
trichlopyr  (ISO)
trilobatin  (ISO)
tunicamycin  (EXP)
uridine  (ISO)
valproic acid  (EXP,ISO)
zalcitabine  (EXP,ISO)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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 left ventricular function  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormal mitral valve physiology  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Aphasia  (IAGP)
Aplasia/Hypoplasia of the cerebral white matter  (IAGP)
Ataxia  (IAGP)
Basal ganglia calcification  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bipolar affective disorder  (IAGP)
Blurred vision  (IAGP)
Cardiac conduction abnormality  (IAGP)
Central scotoma  (IAGP)
Centrocecal scotoma  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Colon cancer  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Dementia  (IAGP)
Depressivity  (IAGP)
Developmental cataract  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
EEG abnormality  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Encephalopathy  (IAGP)
Episodic vomiting  (IAGP)
Erythema  (IAGP)
Exercise intolerance  (IAGP)
External ophthalmoplegia  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Fluctuations in consciousness  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Focal-onset seizure  (IAGP)
Gait disturbance  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Hemianopia  (IAGP)
Hemiparesis  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoparathyroidism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypothyroidism  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Increased CSF lactate  (IAGP)
Increased CSF protein  (IAGP)
Increased serum lactate  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Lactic acidosis  (IAGP)
Leber optic atrophy  (IAGP)
Left ventricular hypertrophy  (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 weakness  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Nephropathy  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Personality changes  (IAGP)
Pigmentary retinopathy  (IAGP)
Postural tremor  (IAGP)
Progressive external ophthalmoplegia  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Proteinuria  (IAGP)
Proximal tubulopathy  (IAGP)
Psychotic mentation  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Ragged-red muscle fibers  (IAGP)
Recurrent myoglobinuria  (IAGP)
Recurrent pancreatitis  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Retinal telangiectasia  (IAGP)
Retinal vascular tortuosity  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short stature  (IAGP)
Slow decrease in visual acuity  (IAGP)
Stroke-like episode  (IAGP)
Stuttering  (IAGP)
Tetralogy of Fallot  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Variable expressivity  (IAGP)
Ventricular preexcitation  (IAGP)
Visual loss  (IAGP)
Vitiligo  (IAGP)
Vomiting  (IAGP)
Widened cerebral subarachnoid space  (IAGP)
Wolff-Parkinson-White syndrome  (IAGP)
References

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:21873635   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:30207067   PMID:30334343   PMID:30743023  
PMID:31299394   PMID:31350224   PMID:31980649  


Genomics

Comparative Map Data
MT-CO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblMT5,904 - 7,445 (+)EnsemblGRCh38hg38GRCh38
GRCh38MT5,904 - 7,445 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37MT5,904 - 7,445 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT5,905 - 7,446 (+)NCBINCBI36hg18NCBI36
mt-Co1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39MT5,328 - 6,872 (+)NCBIGRCm39mm39
GRCm39 EnsemblMT5,328 - 6,872 (+)Ensembl
GRCm38MT5,328 - 6,872 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblMT5,328 - 6,872 (+)EnsemblGRCm38mm10GRCm38
MGSCv37MT5,328 - 6,872 (+)NCBIGRCm37mm9NCBIm37
Mt-co1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0 EnsemblMT5,323 - 6,867 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0MT5,323 - 6,867 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0MT5,323 - 6,867 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4MT5,323 - 6,867 (+)NCBIRGSC3.4rn4RGSC3.4
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 (+)NCBI
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

Position Markers
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

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2430 2956 1719 622 1918 464 4355 2192 3708 418 1423 1605 171 1203 2788 4
Medium 2 28 4 30 1 25 3 1
Low
Below cutoff

Sequence

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

Reference Sequences
RefSeq Acc Id: ENST00000361624   ⟹   ENSP00000354499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblMT5,904 - 7,445 (+)Ensembl
Protein Sequences
Protein RefSeqs YP_003024028 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58945 (Get FASTA)   NCBI Sequence Viewer  
  P00395 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: ENSP00000354499   ⟸   ENST00000361624
Protein Domains
COX1


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
m.6264G>A single nucleotide variant Familial colorectal cancer [RCV000010305]|Leigh syndrome [RCV000853954] ChrMT:6264 [GRCh38]
ChrMT:6264 [GRCh37]
pathogenic|uncertain significance
m.7275T>C single nucleotide variant Familial colorectal cancer [RCV000010311] ChrMT:7275 [GRCh38]
ChrMT:7275 [GRCh37]
pathogenic
m.6277G>A single nucleotide variant Familial colorectal cancer [RCV000010310] ChrMT:6277 [GRCh38]
ChrMT:6277 [GRCh37]
pathogenic
NC_012920.1:m.7444G>A single nucleotide variant Aminoglycoside-induced deafness [RCV000010300]|Deafness, nonsyndromic sensorineural, mitochondrial [RCV000010301]|Leber's optic atrophy [RCV000010299]|Leigh syndrome [RCV000854073]|not provided [RCV001268422] ChrMT:7444 [GRCh38]
ChrMT:7444 [GRCh37]
pathogenic|benign
m.6742T>C single nucleotide variant Sideroblastic anemia, acquired idiopathic [RCV000010302] ChrMT:6742 [GRCh38]
ChrMT:6742 [GRCh37]
pathogenic
m.6721T>C single nucleotide variant Sideroblastic anemia, acquired idiopathic [RCV000010303] ChrMT:6721 [GRCh38]
ChrMT:6721 [GRCh37]
pathogenic
m.6480G>A single nucleotide variant Leigh syndrome [RCV000853974]|Mitochondrial complex IV deficiency [RCV000010304] ChrMT:6480 [GRCh38]
ChrMT:6480 [GRCh37]
pathogenic|benign
m.6930G>A single nucleotide variant Mitochondrial complex IV deficiency [RCV000010306] ChrMT:6930 [GRCh38]
ChrMT:6930 [GRCh37]
pathogenic
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
m.5920G>A single nucleotide variant Myoglobinuria, recurrent [RCV000010307] ChrMT:5920 [GRCh38]
ChrMT:5920 [GRCh37]
pathogenic
NC_012920.1:m.7445A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Deafness, nonsyndromic sensorineural, mitochondrial [RCV000010177]|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850885]|Palmoplantar keratoderma-deafness syndrome [RCV000010176] ChrMT:7445 [GRCh38]
ChrMT:7445 [GRCh37]
pathogenic
m.7445A>C single nucleotide variant Deafness, nonsyndromic sensorineural, mitochondrial [RCV000010181] ChrMT:7445 [GRCh38]
ChrMT:7445 [GRCh37]
pathogenic
NC_012920.1:m.7443A>G single nucleotide variant Deafness, nonsyndromic sensorineural, mitochondrial [RCV000202557] ChrMT:7443 [GRCh38]
ChrMT:7443 [GRCh37]
pathogenic
NC_012920.1:m.5782_13922del8141 deletion Primary dilated cardiomyopathy [RCV000191151] ChrMT:5782..13922 [GRCh38]
ChrMT:5782..13922 [GRCh37]
likely pathogenic
NC_012920.1:m.5794_14876del9083 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: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:m.5951A>G single nucleotide variant not provided [RCV000224370] ChrMT:5951 [GRCh38]
ChrMT:5951 [GRCh37]
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: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:m.6003_11220del5218 deletion Mitochondrial diseases [RCV000495067] ChrMT:6003..11220 [GRCh38]
ChrMT:6003..11220 [GRCh37]
pathogenic
NC_012920.1:m.6469_15587del9119 deletion Mitochondrial diseases [RCV000495334] ChrMT:6469..15587 [GRCh38]
ChrMT:6469..15587 [GRCh37]
pathogenic
NC_012920.1:m.7129_13991del6863 deletion Mitochondrial diseases [RCV000495692] ChrMT:7129..13991 [GRCh38]
ChrMT:7129..13991 [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:m.6018G>A single nucleotide variant Leigh syndrome [RCV000853926] ChrMT:6018 [GRCh38]
ChrMT:6018 [GRCh37]
benign
NC_012920.1:m.6040A>G single nucleotide variant Leigh syndrome [RCV000853928] ChrMT:6040 [GRCh38]
ChrMT:6040 [GRCh37]
benign
NC_012920.1:m.6048G>A single nucleotide variant Leigh syndrome [RCV000853929] ChrMT:6048 [GRCh38]
ChrMT:6048 [GRCh37]
uncertain significance
NC_012920.1:m.6072A>G single nucleotide variant Leigh syndrome [RCV000853934] ChrMT:6072 [GRCh38]
ChrMT:6072 [GRCh37]
uncertain significance
NC_012920.1:m.6126A>G single nucleotide variant Leigh syndrome [RCV000853942] ChrMT:6126 [GRCh38]
ChrMT:6126 [GRCh37]
likely benign
NC_012920.1:m.6228C>T single nucleotide variant Leigh syndrome [RCV000853947] ChrMT:6228 [GRCh38]
ChrMT:6228 [GRCh37]
benign
NC_012920.1:m.6249G>A single nucleotide variant Leigh syndrome [RCV000853949] ChrMT:6249 [GRCh38]
ChrMT:6249 [GRCh37]
benign
NC_012920.1:m.6273A>G single nucleotide variant Leigh syndrome [RCV000853956] ChrMT:6273 [GRCh38]
ChrMT:6273 [GRCh37]
uncertain significance
NC_012920.1:m.6285G>A single nucleotide variant Leigh syndrome [RCV000853957] ChrMT:6285 [GRCh38]
ChrMT:6285 [GRCh37]
benign
NC_012920.1:m.6289A>G single nucleotide variant Leigh syndrome [RCV000853959] ChrMT:6289 [GRCh38]
ChrMT:6289 [GRCh37]
uncertain significance
NC_012920.1:m.6340C>T single nucleotide variant Leigh syndrome [RCV000853963] ChrMT:6340 [GRCh38]
ChrMT:6340 [GRCh37]
benign
NC_012920.1:m.6367T>C single nucleotide variant Leigh syndrome [RCV000853968] ChrMT:6367 [GRCh38]
ChrMT:6367 [GRCh37]
likely benign
NC_012920.1:m.6504G>A single nucleotide variant Leigh syndrome [RCV000853977] ChrMT:6504 [GRCh38]
ChrMT:6504 [GRCh37]
uncertain significance
NC_012920.1:m.6546C>T single nucleotide variant Leigh syndrome [RCV000853982] ChrMT:6546 [GRCh38]
ChrMT:6546 [GRCh37]
benign
NC_012920.1:m.6564G>A single nucleotide variant Leigh syndrome [RCV000853984] ChrMT:6564 [GRCh38]
ChrMT:6564 [GRCh37]
uncertain significance
NC_012920.1:m.6709G>A single nucleotide variant Leigh syndrome [RCV000853990] ChrMT:6709 [GRCh38]
ChrMT:6709 [GRCh37]
uncertain significance
NC_012920.1:m.6712A>T single nucleotide variant Leigh syndrome [RCV000853991] ChrMT:6712 [GRCh38]
ChrMT:6712 [GRCh37]
uncertain significance
NC_012920.1:m.6748T>C single nucleotide variant Leigh syndrome [RCV000853995] ChrMT:6748 [GRCh38]
ChrMT:6748 [GRCh37]
uncertain significance
NC_012920.1:m.6844T>C single nucleotide variant Leigh syndrome [RCV000853998] ChrMT:6844 [GRCh38]
ChrMT:6844 [GRCh37]
uncertain significance
NC_012920.1:m.6855G>A single nucleotide variant Leigh syndrome [RCV000854000] ChrMT:6855 [GRCh38]
ChrMT:6855 [GRCh37]
uncertain significance
NC_012920.1:m.6856T>C single nucleotide variant Leigh syndrome [RCV000854001] ChrMT:6856 [GRCh38]
ChrMT:6856 [GRCh37]
uncertain significance
NC_012920.1:m.6912G>A single nucleotide variant Leigh syndrome [RCV000854007] ChrMT:6912 [GRCh38]
ChrMT:6912 [GRCh37]
uncertain significance
NC_012920.1:m.6978G>A single nucleotide variant Leigh syndrome [RCV000854013] ChrMT:6978 [GRCh38]
ChrMT:6978 [GRCh37]
uncertain significance
NC_012920.1:m.6987T>G single nucleotide variant Leigh syndrome [RCV000854014] ChrMT:6987 [GRCh38]
ChrMT:6987 [GRCh37]
uncertain significance
NC_012920.1:m.7051T>C single nucleotide variant Leigh syndrome [RCV000854019] ChrMT:7051 [GRCh38]
ChrMT:7051 [GRCh37]
likely benign
NC_012920.1:m.7083A>G single nucleotide variant Leigh syndrome [RCV000854023] ChrMT:7083 [GRCh38]
ChrMT:7083 [GRCh37]
likely benign
NC_012920.1:m.7146_7147inv inversion Leigh syndrome [RCV000854030] ChrMT:7146..7147 [GRCh38]
ChrMT:7146..7147 [GRCh37]
uncertain significance
NC_012920.1:m.7147C>T single nucleotide variant Leigh syndrome [RCV000854031] ChrMT:7147 [GRCh38]
ChrMT:7147 [GRCh37]
uncertain significance
NC_012920.1:m.7149A>G single nucleotide variant Leigh syndrome [RCV000854032] ChrMT:7149 [GRCh38]
ChrMT:7149 [GRCh37]
likely benign
NC_012920.1:m.7150T>C single nucleotide variant Leigh syndrome [RCV000854033] ChrMT:7150 [GRCh38]
ChrMT:7150 [GRCh37]
benign
NC_012920.1:m.7153T>C single nucleotide variant Leigh syndrome [RCV000854034] ChrMT:7153 [GRCh38]
ChrMT:7153 [GRCh37]
uncertain significance
NC_012920.1:m.7159T>C single nucleotide variant Leigh syndrome [RCV000854038] ChrMT:7159 [GRCh38]
ChrMT:7159 [GRCh37]
likely benign
NC_012920.1:m.7300T>C single nucleotide variant Leigh syndrome [RCV000854056] ChrMT:7300 [GRCh38]
ChrMT:7300 [GRCh37]
uncertain significance
NC_012920.1:m.7332G>A single nucleotide variant Leigh syndrome [RCV000854058] ChrMT:7332 [GRCh38]
ChrMT:7332 [GRCh37]
uncertain significance
NC_012920.1:m.7356G>A single nucleotide variant Leigh syndrome [RCV000854060] ChrMT:7356 [GRCh38]
ChrMT:7356 [GRCh37]
benign
NC_012920.1:m.7389T>C single nucleotide variant Leigh syndrome [RCV000854066] ChrMT:7389 [GRCh38]
ChrMT:7389 [GRCh37]
benign
NC_012920.1: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:m.7445A>T single nucleotide variant Deafness, nonsyndromic sensorineural, mitochondrial [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:m.5918T>C single nucleotide variant not provided [RCV000992334] ChrMT:5918 [GRCh38]
ChrMT:5918 [GRCh37]
benign
NC_012920.1:m.6026G>A single nucleotide variant not provided [RCV000992335] ChrMT:6026 [GRCh38]
ChrMT:6026 [GRCh37]
benign
NC_012920.1:m.6626T>C single nucleotide variant not provided [RCV000992338] ChrMT:6626 [GRCh38]
ChrMT:6626 [GRCh37]
likely benign
NC_012920.1:m.6671T>C single nucleotide variant not provided [RCV000992339] ChrMT:6671 [GRCh38]
ChrMT:6671 [GRCh37]
benign
NC_012920.1: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:m.6899G>C single nucleotide variant not provided [RCV000992343] ChrMT:6899 [GRCh38]
ChrMT:6899 [GRCh37]
uncertain significance
NC_012920.1:m.7274C>T single nucleotide variant not provided [RCV000992348] ChrMT:7274 [GRCh38]
ChrMT:7274 [GRCh37]
benign
NC_012920.1:m.6446G>A single nucleotide variant not provided [RCV000992337] ChrMT:6446 [GRCh38]
ChrMT:6446 [GRCh37]
benign
NC_012920.1:m.6776T>C single nucleotide variant not provided [RCV000992341] ChrMT:6776 [GRCh38]
ChrMT:6776 [GRCh37]
benign
NC_012920.1:m.6911T>C single nucleotide variant not provided [RCV000992344] ChrMT:6911 [GRCh38]
ChrMT:6911 [GRCh37]
benign
NC_012920.1:m.6353A>G single nucleotide variant not provided [RCV000992336] ChrMT:6353 [GRCh38]
ChrMT:6353 [GRCh37]
benign
NC_012920.1:m.7013G>A single nucleotide variant not provided [RCV000992346] ChrMT:7013 [GRCh38]
ChrMT:7013 [GRCh37]
benign
NC_012920.1:m.5910G>A single nucleotide variant Leigh syndrome [RCV000853918] ChrMT:5910 [GRCh38]
ChrMT:5910 [GRCh37]
benign
NC_012920.1:m.5979G>A single nucleotide variant Leigh syndrome [RCV000853923] ChrMT:5979 [GRCh38]
ChrMT:5979 [GRCh37]
benign
NC_012920.1:m.5985G>A single nucleotide variant Leigh syndrome [RCV000853924] ChrMT:5985 [GRCh38]
ChrMT:5985 [GRCh37]
benign
NC_012920.1:m.6012A>G single nucleotide variant Leigh syndrome [RCV000853925] ChrMT:6012 [GRCh38]
ChrMT:6012 [GRCh37]
uncertain significance
NC_012920.1:m.6075G>A single nucleotide variant Leigh syndrome [RCV000853935] ChrMT:6075 [GRCh38]
ChrMT:6075 [GRCh37]
uncertain significance
NC_012920.1:m.6307A>G single nucleotide variant Leigh syndrome [RCV000853960] ChrMT:6307 [GRCh38]
ChrMT:6307 [GRCh37]
uncertain significance
NC_012920.1:m.6445C>T single nucleotide variant Leigh syndrome [RCV000853971] ChrMT:6445 [GRCh38]
ChrMT:6445 [GRCh37]
likely benign
NC_012920.1:m.6465G>A single nucleotide variant Leigh syndrome [RCV000853973] ChrMT:6465 [GRCh38]
ChrMT:6465 [GRCh37]
benign
NC_012920.1:m.6681T>C single nucleotide variant Leigh syndrome [RCV000853989] ChrMT:6681 [GRCh38]
ChrMT:6681 [GRCh37]
likely benign
NC_012920.1:m.6781T>C single nucleotide variant Leigh syndrome [RCV000853997] ChrMT:6781 [GRCh38]
ChrMT:6781 [GRCh37]
uncertain significance
NC_012920.1:m.6876G>A single nucleotide variant Leigh syndrome [RCV000854003] ChrMT:6876 [GRCh38]
ChrMT:6876 [GRCh37]
uncertain significance
NC_012920.1:m.6951G>A single nucleotide variant Leigh syndrome [RCV000854011]|not provided [RCV000992345] ChrMT:6951 [GRCh38]
ChrMT:6951 [GRCh37]
likely benign|uncertain significance
NC_012920.1:m.7084T>C single nucleotide variant Leigh syndrome [RCV000854024] ChrMT:7084 [GRCh38]
ChrMT:7084 [GRCh37]
uncertain significance
NC_012920.1:m.7155T>C single nucleotide variant Leigh syndrome [RCV000854035] ChrMT:7155 [GRCh38]
ChrMT:7155 [GRCh37]
uncertain significance
NC_012920.1:m.7158A>C single nucleotide variant Leigh syndrome [RCV000854037] ChrMT:7158 [GRCh38]
ChrMT:7158 [GRCh37]
likely benign
NC_012920.1:m.7191T>C single nucleotide variant Leigh syndrome [RCV000854041] ChrMT:7191 [GRCh38]
ChrMT:7191 [GRCh37]
likely benign
NC_012920.1:m.7222A>G single nucleotide variant Mitochondrial myopathy, infantile, transient [RCV000854042] ChrMT:7222 [GRCh38]
ChrMT:7222 [GRCh37]
likely pathogenic
NC_012920.1:m.7233C>T single nucleotide variant Leigh syndrome [RCV000854043] ChrMT:7233 [GRCh38]
ChrMT:7233 [GRCh37]
uncertain significance
NC_012920.1:m.7270T>C single nucleotide variant Leigh syndrome [RCV000854049] ChrMT:7270 [GRCh38]
ChrMT:7270 [GRCh37]
benign
NC_012920.1:m.7440T>G single nucleotide variant Leigh syndrome [RCV000854072] ChrMT:7440 [GRCh38]
ChrMT:7440 [GRCh37]
uncertain significance
NC_012920.1:m.5907T>C single nucleotide variant Leigh syndrome [RCV000853917] ChrMT:5907 [GRCh38]
ChrMT:5907 [GRCh37]
uncertain significance
NC_012920.1:m.6052A>G single nucleotide variant Leigh syndrome [RCV000853930] ChrMT:6052 [GRCh38]
ChrMT:6052 [GRCh37]
likely benign
NC_012920.1:m.6253T>C single nucleotide variant Leigh syndrome [RCV000853951] ChrMT:6253 [GRCh38]
ChrMT:6253 [GRCh37]
benign
NC_012920.1:m.6258G>A single nucleotide variant Leigh syndrome [RCV000853952] ChrMT:6258 [GRCh38]
ChrMT:6258 [GRCh37]
uncertain significance
NC_012920.1:m.6324G>A single nucleotide variant Leigh syndrome [RCV000853961] ChrMT:6324 [GRCh38]
ChrMT:6324 [GRCh37]
uncertain significance
NC_012920.1:m.6366G>A single nucleotide variant Leigh syndrome [RCV000853966] ChrMT:6366 [GRCh38]
ChrMT:6366 [GRCh37]
benign
NC_012920.1:m.6393T>C single nucleotide variant Leigh syndrome [RCV000853969] ChrMT:6393 [GRCh38]
ChrMT:6393 [GRCh37]
uncertain significance
NC_012920.1:m.6505T>C single nucleotide variant Leigh syndrome [RCV000853978] ChrMT:6505 [GRCh38]
ChrMT:6505 [GRCh37]
uncertain significance
NC_012920.1:m.6510G>A single nucleotide variant Leigh syndrome [RCV000853979] ChrMT:6510 [GRCh38]
ChrMT:6510 [GRCh37]
likely benign
NC_012920.1:m.6550A>G single nucleotide variant Leigh syndrome [RCV000853983] ChrMT:6550 [GRCh38]
ChrMT:6550 [GRCh37]
uncertain significance
NC_012920.1:m.6570G>T single nucleotide variant Leigh syndrome [RCV000853985] ChrMT:6570 [GRCh38]
ChrMT:6570 [GRCh37]
benign
NC_012920.1:m.6642A>G single nucleotide variant Leigh syndrome [RCV000853986] ChrMT:6642 [GRCh38]
ChrMT:6642 [GRCh37]
uncertain significance
NC_012920.1:m.6663A>G single nucleotide variant Leigh syndrome [RCV000853987] ChrMT:6663 [GRCh38]
ChrMT:6663 [GRCh37]
benign
NC_012920.1:m.6714A>G single nucleotide variant Leigh syndrome [RCV000853992] ChrMT:6714 [GRCh38]
ChrMT:6714 [GRCh37]
uncertain significance
NC_012920.1:m.6723G>A single nucleotide variant Leigh syndrome [RCV000853993] ChrMT:6723 [GRCh38]
ChrMT:6723 [GRCh37]
benign
NC_012920.1:m.7020G>A single nucleotide variant Leigh syndrome [RCV000854016] ChrMT:7020 [GRCh38]
ChrMT:7020 [GRCh37]
uncertain significance
NC_012920.1:m.7080T>C single nucleotide variant Leigh syndrome [RCV000854022] ChrMT:7080 [GRCh38]
ChrMT:7080 [GRCh37]
benign
NC_012920.1:m.7125A>G single nucleotide variant Leigh syndrome [RCV000854026] ChrMT:7125 [GRCh38]
ChrMT:7125 [GRCh37]
uncertain significance
NC_012920.1:m.7129A>G single nucleotide variant Leigh syndrome [RCV000854027] ChrMT:7129 [GRCh38]
ChrMT:7129 [GRCh37]
likely benign
NC_012920.1:m.7146A>G single nucleotide variant Leigh syndrome [RCV000854029] ChrMT:7146 [GRCh38]
ChrMT:7146 [GRCh37]
benign
NC_012920.1:m.7158A>G single nucleotide variant Leigh syndrome [RCV000854036] ChrMT:7158 [GRCh38]
ChrMT:7158 [GRCh37]
benign
NC_012920.1:m.7258T>C single nucleotide variant Leigh syndrome [RCV000854047] ChrMT:7258 [GRCh38]
ChrMT:7258 [GRCh37]
benign
NC_012920.1:m.7272G>A single nucleotide variant Leigh syndrome [RCV000854050] ChrMT:7272 [GRCh38]
ChrMT:7272 [GRCh37]
uncertain significance
NC_012920.1:m.7357T>C single nucleotide variant Leigh syndrome [RCV000854061] ChrMT:7357 [GRCh38]
ChrMT:7357 [GRCh37]
uncertain significance
NC_012920.1:m.7363A>G single nucleotide variant Leigh syndrome [RCV000854063] ChrMT:7363 [GRCh38]
ChrMT:7363 [GRCh37]
likely benign
NC_012920.1:m.7432A>T single nucleotide variant Leigh syndrome [RCV000854070] ChrMT:7432 [GRCh38]
ChrMT:7432 [GRCh37]
likely benign
NC_012920.1:m.7440T>C single nucleotide variant Leigh syndrome [RCV000854071] ChrMT:7440 [GRCh38]
ChrMT:7440 [GRCh37]
uncertain significance
NC_012920.1:m.6037G>A single nucleotide variant Leigh syndrome [RCV000853927] ChrMT:6037 [GRCh38]
ChrMT:6037 [GRCh37]
uncertain significance
NC_012920.1:m.6060A>C single nucleotide variant Leigh syndrome [RCV000853931] ChrMT:6060 [GRCh38]
ChrMT:6060 [GRCh37]
uncertain significance
NC_012920.1:m.6060A>G single nucleotide variant Leigh syndrome [RCV000853932] ChrMT:6060 [GRCh38]
ChrMT:6060 [GRCh37]
likely benign
NC_012920.1:m.6145G>A single nucleotide variant Mitochondrial myopathy, infantile, transient [RCV000853944] ChrMT:6145 [GRCh38]
ChrMT:6145 [GRCh37]
likely pathogenic
NC_012920.1:m.6150G>A single nucleotide variant Leigh syndrome [RCV000853945] ChrMT:6150 [GRCh38]
ChrMT:6150 [GRCh37]
benign
NC_012920.1:m.6237C>A single nucleotide variant Leigh syndrome [RCV000853948] ChrMT:6237 [GRCh38]
ChrMT:6237 [GRCh37]
benign
NC_012920.1:m.6286T>C single nucleotide variant Leigh syndrome [RCV000853958] ChrMT:6286 [GRCh38]
ChrMT:6286 [GRCh37]
uncertain significance
NC_012920.1:m.6345T>C single nucleotide variant Leigh syndrome [RCV000853964] ChrMT:6345 [GRCh38]
ChrMT:6345 [GRCh37]
benign
NC_012920.1:m.6366G>C single nucleotide variant Leigh syndrome [RCV000853967] ChrMT:6366 [GRCh38]
ChrMT:6366 [GRCh37]
benign
NC_012920.1:m.6420C>A single nucleotide variant Leigh syndrome [RCV000853970] ChrMT:6420 [GRCh38]
ChrMT:6420 [GRCh37]
uncertain significance
NC_012920.1:m.6456G>A single nucleotide variant Leigh syndrome [RCV000853972] ChrMT:6456 [GRCh38]
ChrMT:6456 [GRCh37]
benign
NC_012920.1:m.6664T>C single nucleotide variant Leigh syndrome [RCV000853988] ChrMT:6664 [GRCh38]
ChrMT:6664 [GRCh37]
uncertain significance
NC_012920.1:m.6747T>C single nucleotide variant Leigh syndrome [RCV000853994] ChrMT:6747 [GRCh38]
ChrMT:6747 [GRCh37]
uncertain significance
NC_012920.1:m.6756T>C single nucleotide variant Leigh syndrome [RCV000853996] ChrMT:6756 [GRCh38]
ChrMT:6756 [GRCh37]
uncertain significance
NC_012920.1:m.6891A>G single nucleotide variant Leigh syndrome [RCV000854004] ChrMT:6891 [GRCh38]
ChrMT:6891 [GRCh37]
benign
NC_012920.1:m.6972G>C single nucleotide variant Leigh syndrome [RCV000854012] ChrMT:6972 [GRCh38]
ChrMT:6972 [GRCh37]
uncertain significance
NC_012920.1:m.7077G>A single nucleotide variant Leigh syndrome [RCV000854021] ChrMT:7077 [GRCh38]
ChrMT:7077 [GRCh37]
uncertain significance
NC_012920.1:m.7119G>A single nucleotide variant Leigh syndrome [RCV000854025] ChrMT:7119 [GRCh38]
ChrMT:7119 [GRCh37]
benign
NC_012920.1:m.7187A>T single nucleotide variant Leigh syndrome [RCV000854040] ChrMT:7187 [GRCh38]
ChrMT:7187 [GRCh37]
uncertain significance
NC_012920.1:m.7245A>G single nucleotide variant Leigh syndrome [RCV000854044] ChrMT:7245 [GRCh38]
ChrMT:7245 [GRCh37]
benign
NC_012920.1:m.7278T>C single nucleotide variant Leigh syndrome [RCV000854051] ChrMT:7278 [GRCh38]
ChrMT:7278 [GRCh37]
benign
NC_012920.1:m.7279T>C single nucleotide variant Leigh syndrome [RCV000854052] ChrMT:7279 [GRCh38]
ChrMT:7279 [GRCh37]
uncertain significance
NC_012920.1:m.7362G>A single nucleotide variant Leigh syndrome [RCV000854062] ChrMT:7362 [GRCh38]
ChrMT:7362 [GRCh37]
uncertain significance
NC_012920.1:m.7431T>C single nucleotide variant Leigh syndrome [RCV000854069] ChrMT:7431 [GRCh38]
ChrMT:7431 [GRCh37]
uncertain significance
NC_012920.1:m.5911C>T single nucleotide variant Leigh syndrome [RCV000853919] ChrMT:5911 [GRCh38]
ChrMT:5911 [GRCh37]
benign
NC_012920.1:m.5913G>A single nucleotide variant Leigh syndrome [RCV000853920]|not specified [RCV001288242] ChrMT:5913 [GRCh38]
ChrMT:5913 [GRCh37]
benign
NC_012920.1:m.5961C>A single nucleotide variant Leigh syndrome [RCV000853921] ChrMT:5961 [GRCh38]
ChrMT:5961 [GRCh37]
uncertain significance
NC_012920.1:m.5973G>A single nucleotide variant Leigh syndrome [RCV000853922] ChrMT:5973 [GRCh38]
ChrMT:5973 [GRCh37]
benign
NC_012920.1:m.6081G>T single nucleotide variant Leigh syndrome [RCV000853937] ChrMT:6081 [GRCh38]
ChrMT:6081 [GRCh37]
uncertain significance
NC_012920.1:m.6109T>C single nucleotide variant Leigh syndrome [RCV000853939] ChrMT:6109 [GRCh38]
ChrMT:6109 [GRCh37]
uncertain significance
NC_012920.1:m.6132G>A single nucleotide variant Leigh syndrome [RCV000853943] ChrMT:6132 [GRCh38]
ChrMT:6132 [GRCh37]
uncertain significance
NC_012920.1:m.6252A>G single nucleotide variant Leigh syndrome [RCV000853950] ChrMT:6252 [GRCh38]
ChrMT:6252 [GRCh37]
likely benign
NC_012920.1:m.6267G>A single nucleotide variant Leigh syndrome [RCV000853955] ChrMT:6267 [GRCh38]
ChrMT:6267 [GRCh37]
benign
NC_012920.1:m.6339A>G single nucleotide variant Leigh syndrome [RCV000853962] ChrMT:6339 [GRCh38]
ChrMT:6339 [GRCh37]
likely benign
NC_012920.1:m.6358T>C single nucleotide variant Leigh syndrome [RCV000853965] ChrMT:6358 [GRCh38]
ChrMT:6358 [GRCh37]
uncertain significance
NC_012920.1:m.6481T>C single nucleotide variant Leigh syndrome [RCV000853975] ChrMT:6481 [GRCh38]
ChrMT:6481 [GRCh37]
uncertain significance
NC_012920.1:m.6868G>A single nucleotide variant Leigh syndrome [RCV000854002] ChrMT:6868 [GRCh38]
ChrMT:6868 [GRCh37]
uncertain significance
NC_012920.1:m.6897A>G single nucleotide variant Leigh syndrome [RCV000854005] ChrMT:6897 [GRCh38]
ChrMT:6897 [GRCh37]
uncertain significance
NC_012920.1:m.6909G>A single nucleotide variant Leigh syndrome [RCV000854006] ChrMT:6909 [GRCh38]
ChrMT:6909 [GRCh37]
uncertain significance
NC_012920.1:m.6924G>A single nucleotide variant Leigh syndrome [RCV000854010] ChrMT:6924 [GRCh38]
ChrMT:6924 [GRCh37]
uncertain significance
NC_012920.1:m.7032T>C single nucleotide variant Leigh syndrome [RCV000854017] ChrMT:7032 [GRCh38]
ChrMT:7032 [GRCh37]
uncertain significance
NC_012920.1:m.7053G>A single nucleotide variant Leigh syndrome [RCV000854020] ChrMT:7053 [GRCh38]
ChrMT:7053 [GRCh37]
uncertain significance
NC_012920.1:m.7138T>C single nucleotide variant Leigh syndrome [RCV000854028] ChrMT:7138 [GRCh38]
ChrMT:7138 [GRCh37]
uncertain significance
NC_012920.1:m.7168A>G single nucleotide variant Leigh syndrome [RCV000854039] ChrMT:7168 [GRCh38]
ChrMT:7168 [GRCh37]
uncertain significance
NC_012920.1:m.7299A>G single nucleotide variant Leigh syndrome [RCV000854055] ChrMT:7299 [GRCh38]
ChrMT:7299 [GRCh37]
benign
NC_012920.1:m.7309T>C single nucleotide variant Leigh syndrome [RCV000854057] ChrMT:7309 [GRCh38]
ChrMT:7309 [GRCh37]
benign
NC_012920.1:m.7408A>G single nucleotide variant Leigh syndrome [RCV000854067] ChrMT:7408 [GRCh38]
ChrMT:7408 [GRCh37]
uncertain significance
NC_012920.1:m.6061T>C single nucleotide variant Leigh syndrome [RCV000853933] ChrMT:6061 [GRCh38]
ChrMT:6061 [GRCh37]
uncertain significance
NC_012920.1:m.6081G>A single nucleotide variant Leigh syndrome [RCV000853936] ChrMT:6081 [GRCh38]
ChrMT:6081 [GRCh37]
likely benign
NC_012920.1:m.6093G>A single nucleotide variant Leigh syndrome [RCV000853938] ChrMT:6093 [GRCh38]
ChrMT:6093 [GRCh37]
uncertain significance
NC_012920.1:m.6121T>C single nucleotide variant Leigh syndrome [RCV000853941] ChrMT:6121 [GRCh38]
ChrMT:6121 [GRCh37]
uncertain significance
NC_012920.1:m.6174G>A single nucleotide variant Leigh syndrome [RCV000853946] ChrMT:6174 [GRCh38]
ChrMT:6174 [GRCh37]
uncertain significance
NC_012920.1:m.6520T>C single nucleotide variant Leigh syndrome [RCV000853980] ChrMT:6520 [GRCh38]
ChrMT:6520 [GRCh37]
uncertain significance
NC_012920.1:m.6526T>C single nucleotide variant Leigh syndrome [RCV000853981] ChrMT:6526 [GRCh38]
ChrMT:6526 [GRCh37]
likely pathogenic
NC_012920.1:m.6852G>A single nucleotide variant Leigh syndrome [RCV000853999] ChrMT:6852 [GRCh38]
ChrMT:6852 [GRCh37]
benign
NC_012920.1:m.6915G>A single nucleotide variant Leigh syndrome [RCV000854008] ChrMT:6915 [GRCh38]
ChrMT:6915 [GRCh37]
benign
NC_012920.1:m.6916T>C single nucleotide variant Leigh syndrome [RCV000854009] ChrMT:6916 [GRCh38]
ChrMT:6916 [GRCh37]
uncertain significance
NC_012920.1:m.7015A>G single nucleotide variant Leigh syndrome [RCV000854015] ChrMT:7015 [GRCh38]
ChrMT:7015 [GRCh37]
uncertain significance
NC_012920.1:m.7249C>T single nucleotide variant Leigh syndrome [RCV000854045] ChrMT:7249 [GRCh38]
ChrMT:7249 [GRCh37]
uncertain significance
NC_012920.1:m.7257A>G single nucleotide variant Leigh syndrome [RCV000854046] ChrMT:7257 [GRCh38]
ChrMT:7257 [GRCh37]
benign
NC_012920.1:m.7269G>A single nucleotide variant Leigh syndrome [RCV000854048] ChrMT:7269 [GRCh38]
ChrMT:7269 [GRCh37]
benign
NC_012920.1:m.7284T>G single nucleotide variant Leigh syndrome [RCV000854053] ChrMT:7284 [GRCh38]
ChrMT:7284 [GRCh37]
uncertain significance
NC_012920.1:m.7290A>G single nucleotide variant Leigh syndrome [RCV000854054] ChrMT:7290 [GRCh38]
ChrMT:7290 [GRCh37]
uncertain significance
NC_012920.1:m.7347G>A single nucleotide variant Leigh syndrome [RCV000854059] ChrMT:7347 [GRCh38]
ChrMT:7347 [GRCh37]
uncertain significance
NC_012920.1:m.7365C>A single nucleotide variant Leigh syndrome [RCV000854064] ChrMT:7365 [GRCh38]
ChrMT:7365 [GRCh37]
uncertain significance
NC_012920.1:m.7374A>G single nucleotide variant Leigh syndrome [RCV000854065] ChrMT:7374 [GRCh38]
ChrMT:7374 [GRCh37]
uncertain significance
NC_012920.1:m.7419G>A single nucleotide variant Leigh syndrome [RCV000854068] ChrMT:7419 [GRCh38]
ChrMT:7419 [GRCh37]
benign
NC_012920.1:m.7196C>A single nucleotide variant not provided [RCV000992347] ChrMT:7196 [GRCh38]
ChrMT:7196 [GRCh37]
benign
NC_012920.1:m.6047A>G single nucleotide variant not specified [RCV001288244] ChrMT:6047 [GRCh38]
ChrMT:6047 [GRCh37]
benign
NC_012920.1:m.6497T>C single nucleotide variant not specified [RCV001288246] ChrMT:6497 [GRCh38]
ChrMT:6497 [GRCh37]
benign
NC_012920.1:m.6254A>G single nucleotide variant not provided [RCV001288245] ChrMT:6254 [GRCh38]
ChrMT:6254 [GRCh37]
likely benign
NC_012920.1:m.5999T>C single nucleotide variant not specified [RCV001288243] ChrMT:5999 [GRCh38]
ChrMT:5999 [GRCh37]
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7419 AgrOrtholog
COSMIC MT-CO1 COSMIC
Ensembl Genes ENSG00000198804 Ensembl, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000354499 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361624 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 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 A0A1X7RBG2_HUMAN UniProtKB/TrEMBL
  COX1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  U5YWV7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary 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