MT-ND1 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1) - Rat Genome Database

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Gene: MT-ND1 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1) Homo sapiens
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Symbol: MT-ND1
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
RGD ID: 1349540
HGNC Page HGNC
Description: Is predicted to contribute to NADH dehydrogenase activity. Predicted to be involved in aerobic respiration. Localizes to mitochondrial respiratory chain complex I. Implicated in several diseases, including MELAS syndrome; neurodegenerative disease (multiple); optic nerve disease (multiple); toxic shock syndrome; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease; Parkinson's disease; and multiple sclerosis; INTERACTS WITH (+)-epicatechin-3-O-gallate; (-)-epigallocatechin 3-gallate; aflatoxin B1.
Type: protein-coding
RefSeq Status: PROVISIONAL
Also known as: mitochondrially encoded NADH dehydrogenase 1; MTND1; NADH dehydrogenase subunit 1; NADH dehydrogenase, subunit 1 (complex I)
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 EnsemblMT3,307 - 4,262 (+)EnsemblGRCh38hg38GRCh38
GRCh38MT3,307 - 4,262 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37MT3,307 - 4,262 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT3,308 - 4,264 (+)NCBINCBI36hg18NCBI36


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal CSF lactate level  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormal renal tubule morphology  (IAGP)
Abnormal speech prosody  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of Krebs cycle metabolism  (IAGP)
Abnormality of the optic disc  (IAGP)
Agenesis of corpus callosum  (IAGP)
Alzheimer disease  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Aphasia  (IAGP)
Aplasia/Hypoplasia of the cerebral white matter  (IAGP)
Apnea  (IAGP)
Areflexia of lower limbs  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Basal ganglia calcification  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bipolar affective disorder  (IAGP)
Blindness  (IAGP)
Blurred vision  (IAGP)
Bradykinesia  (IAGP)
Bulbar signs  (IAGP)
Cardiac conduction abnormality  (IAGP)
Central retinal vessel vascular tortuosity  (IAGP)
Central scotoma  (IAGP)
Centrocecal scotoma  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Chorea  (IAGP)
Colon cancer  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Dementia  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Depressivity  (IAGP)
Developmental cataract  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Encephalopathy  (IAGP)
Episodic respiratory distress  (IAGP)
Episodic vomiting  (IAGP)
Erythema  (IAGP)
Exercise intolerance  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fetal distress  (IAGP)
Fever  (IAGP)
Fluctuations in consciousness  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Focal T2 hyperintense brainstem lesion  (IAGP)
Focal-onset seizure  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Hemianopia  (IAGP)
Hemiparesis  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Heterogeneous  (IAGP)
Hyperalaninemia  (IAGP)
Hyperglycemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyperventilation  (IAGP)
Hypoglycemia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoparathyroidism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypothermia  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Incomplete penetrance  (IAGP)
Increased CSF lactate  (IAGP)
Increased CSF protein  (IAGP)
Increased serum lactate  (IAGP)
Increased serum pyruvate  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint swelling  (IAGP)
Lactic acidosis  (IAGP)
Lacticaciduria  (IAGP)
Leber optic atrophy  (IAGP)
Left ventricular hypertrophy  (IAGP)
Lethargy  (IAGP)
Leukodystrophy  (IAGP)
Leukoencephalopathy  (IAGP)
Lewy bodies  (IAGP)
Limb ataxia  (IAGP)
Low plasma citrulline  (IAGP)
Lower limb muscle weakness  (IAGP)
Mania  (IAGP)
Memory impairment  (IAGP)
Microcephaly  (IAGP)
Migraine  (IAGP)
Mitochondrial inheritance  (IAGP)
Mitochondrial myopathy  (IAGP)
Mitochondrial respiratory chain defects  (IAGP)
Mixed demyelinating and axonal polyneuropathy  (IAGP)
Motor delay  (IAGP)
Multiple glomerular cysts  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Ophthalmoparesis  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Optic neuropathy  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Personality changes  (IAGP)
Pigmentary retinopathy  (IAGP)
Polyneuropathy  (IAGP)
Poor eye contact  (IAGP)
Poor head control  (IAGP)
Postural tremor  (IAGP)
Progressive external ophthalmoplegia  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Proteinuria  (IAGP)
Proximal tubulopathy  (IAGP)
Psychotic mentation  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Ragged-red muscle fibers  (IAGP)
Recurrent pancreatitis  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Reduced visual acuity  (IAGP)
Respiratory insufficiency  (IAGP)
Resting tremor  (IAGP)
Retinal telangiectasia  (IAGP)
Retinal vascular tortuosity  (IAGP)
Rod-cone dystrophy  (IAGP)
Scotoma  (IAGP)
Segmental peripheral demyelination/remyelination  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short attention span  (IAGP)
Short stature  (IAGP)
Slow decrease in visual acuity  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Stroke-like episode  (IAGP)
Stuttering  (IAGP)
Sudden loss of visual acuity  (IAGP)
Temporal optic disc pallor  (IAGP)
Type I diabetes mellitus  (IAGP)
Type II diabetes mellitus  (IAGP)
Variable expressivity  (IAGP)
Ventricular preexcitation  (IAGP)
Visual field defect  (IAGP)
Visual loss  (IAGP)
Vitiligo  (IAGP)
Vomiting  (IAGP)
Widened cerebral subarachnoid space  (IAGP)
Wolff-Parkinson-White syndrome  (IAGP)
References

References - curated
1. Black GC, etal., Br J Ophthalmol. 1996 Oct;80(10):915-7.
2. Blokhin A, etal., J Mol Neurosci. 2008 Jul;35(3):283-7. Epub 2008 Jun 20.
3. Brighina L, etal., Parkinsonism Relat Disord. 2011 Nov;17(9):701-4. Epub 2011 Jul 20.
4. Brown MD, etal., Hum Genet. 2001 Jul;109(1):33-9.
5. Canter JA, etal., Pharmacogenomics J. 2008 Feb;8(1):71-7. Epub 2007 Aug 7.
6. Da Sylva TR, etal., Arthritis Res Ther. 2005;7(4):R844-51. Epub 2005 Apr 28.
7. Fingert JH, etal., Ophthalmic Genet. 2007 Mar;28(1):1-7.
8. Guo LJ, etal., Mitochondrion. 2005 Feb;5(1):15-33.
9. Heidari MM, etal., Cell Mol Neurobiol. 2009 Mar;29(2):225-33. Epub 2008 Sep 19.
10. Hofmann S, etal., Mol Cell Biochem. 1997 Sep;174(1-2):209-13.
11. Howell N, etal., Am J Hum Genet. 1991 May;48(5):935-42.
12. Huebinger RM, etal., Shock. 2010 Jan;33(1):19-23.
13. Huoponen K, etal., Am J Hum Genet. 1991 Jun;48(6):1147-53.
14. Infante J, etal., J Neurol Sci. 2007 May 15;256(1-2):68-70. Epub 2007 Mar 23.
15. Jove M, etal., J Lipid Res. 2004 Jan;45(1):113-23. Epub 2003 Oct 16.
16. Kim JY, etal., Ann Neurol. 2002 May;51(5):630-4.
17. Kingsbury AE, etal., Ann Neurol. 2001 Aug;50(2):142-9.
18. Kirby DM, etal., J Med Genet. 2004 Oct;41(10):784-9.
19. Kirchner SC, etal., Neurotoxicology. 2000 Aug;21(4):441-5.
20. Kumar M, etal., Mol Vis. 2010 Apr 30;16:782-92.
21. Liang M, etal., Biochem Biophys Res Commun. 2009 Jun 5;383(3):286-92. Epub 2009 Mar 24.
22. Liao WQ, etal., Tohoku J Exp Med. 2008 Aug;215(4):377-84.
23. Liu Y, etal., Biochem Biophys Res Commun. 2008 Mar 28;368(1):18-22. Epub 2008 Jan 14.
24. Manczak M, etal., Neuromolecular Med. 2004;5(2):147-62.
25. Munakata K, etal., Genomics. 2004 Dec;84(6):1041-50.
26. PubMed Book Article
27. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. RGD automated import pipeline for gene-chemical interactions
29. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Swerdlow RH, etal., J Neurol Sci. 2006 Sep 25;247(2):224-30. Epub 2006 Jun 19.
31. Wang Y, etal., Diabet Med. 2010 Apr;27(4):376-83.
32. Yalin S, etal., Cell Biochem Funct. 2007 Jul-Aug;25(4):407-11.
33. Yamada Y and Nakano K, Brain Res Mol Brain Res. 1999 Nov 10;73(1-2):186-8.
34. Yu P, etal., Chin Med J (Engl). 2004 Jul;117(7):985-9.
35. Zhou X, etal., Invest Ophthalmol Vis Sci. 2012 Jul 9;53(8):4586-94. doi: 10.1167/iovs.11-9109.
Additional References at PubMed
PMID:3921850   PMID:6402020   PMID:11418099   PMID:12100083   PMID:12111463   PMID:12133550   PMID:12611891   PMID:12618962   PMID:12670626   PMID:12756609   PMID:12762840   PMID:14580860  
PMID:14671420   PMID:14680844   PMID:14759509   PMID:15038995   PMID:15108120   PMID:15110773   PMID:15505787   PMID:15696471   PMID:15860916   PMID:15952130   PMID:15975594   PMID:16137960  
PMID:16335786   PMID:16414144   PMID:16604388   PMID:16759180   PMID:16828917   PMID:16884381   PMID:17035175   PMID:17045122   PMID:17200023   PMID:17209039   PMID:17429906   PMID:17434142  
PMID:17562939   PMID:17619138   PMID:17717444   PMID:18082471   PMID:18239645   PMID:18486613   PMID:18502698   PMID:18504678   PMID:18513491   PMID:18590963   PMID:18626009   PMID:18701018  
PMID:18709563   PMID:19050702   PMID:19066432   PMID:19199242   PMID:19199265   PMID:19276764   PMID:19299420   PMID:19527690   PMID:19555656   PMID:19758471   PMID:19822128   PMID:20137661  
PMID:20176558   PMID:20197120   PMID:20211276   PMID:20301353   PMID:20301403   PMID:20301411   PMID:20643099   PMID:21329181   PMID:21625124   PMID:21852384   PMID:21873635   PMID:21988832  
PMID:22079202   PMID:22241583   PMID:22517755   PMID:22653752   PMID:22990118   PMID:23464625   PMID:23530560   PMID:23834081   PMID:24002810   PMID:24105702   PMID:24163135   PMID:24344204  
PMID:24430572   PMID:24643264   PMID:25194554   PMID:25626582   PMID:25863085   PMID:25871488   PMID:25896597   PMID:26058080   PMID:26186194   PMID:26201854   PMID:26344197   PMID:27177320  
PMID:27449621   PMID:27457485   PMID:27984598   PMID:28094300   PMID:28129444   PMID:28380382   PMID:28514442   PMID:29117863   PMID:29133631   PMID:29133642   PMID:29774306   PMID:30463901  
PMID:30597069   PMID:31056421   PMID:31810328   PMID:31974161   PMID:32723871   PMID:32861874   PMID:32877691   PMID:32931837  


Genomics

Comparative Map Data
MT-ND1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblMT3,307 - 4,262 (+)EnsemblGRCh38hg38GRCh38
GRCh38MT3,307 - 4,262 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37MT3,307 - 4,262 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT3,308 - 4,264 (+)NCBINCBI36hg18NCBI36
mt-Nd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39MT2,751 - 3,707 (+)NCBIGRCm39mm39
GRCm39 EnsemblMT2,751 - 3,707 (+)Ensembl
GRCm38MT2,751 - 3,707 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblMT2,751 - 3,707 (+)EnsemblGRCm38mm10GRCm38
MGSCv37MT2,751 - 3,707 (+)NCBIGRCm37mm9NCBIm37
Mt-nd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0 EnsemblMT2,740 - 3,694 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0MT2,740 - 3,694 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0MT2,740 - 3,694 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4MT2,740 - 3,694 (+)NCBIRGSC3.4rn4RGSC3.4
Cytogenetic MapMT NCBI
MT-ND1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1MT2,747 - 3,702 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblMT2,747 - 3,703 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaMT2,747 - 3,702 (+)NCBI
MT-ND1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblMT3,922 - 4,876 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1MT3,922 - 4,876 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2MT3,922 - 4,876 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Position Markers
D3S2893E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37396,336,547 - 96,336,688UniSTSGRCh37
GRCh37MT2,062 - 2,203UniSTSGRCh37
Build 36397,819,237 - 97,819,378RGDNCBI36
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q11.2UniSTS
HuRef393,705,899 - 93,706,040UniSTS
D17S1473E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT3,740 - 3,834UniSTSGRCh37
Cytogenetic Map17p12UniSTS
Cytogenetic Map13q14UniSTS
PMC31832P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT2,806 - 2,946UniSTSGRCh37
GRCh371110,529,460 - 10,529,600UniSTSGRCh37
Build 361110,486,036 - 10,486,176RGDNCBI36
Celera1110,651,202 - 10,651,342RGD
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map6q24.2UniSTS
NIB250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371110,529,522 - 10,529,694UniSTSGRCh37
GRCh37MT2,712 - 2,884UniSTSGRCh37
Build 361110,486,098 - 10,486,270RGDNCBI36
Celera1110,651,264 - 10,651,436RGD
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6q24.2UniSTS
Stanford-G3 RH Map11334.0UniSTS
GeneMap99-G3 RH Map11334.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:128
Count of miRNA genes:124
Interacting mature miRNAs:128
Transcripts:ENST00000361390
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 2429 2915 1716 622 1862 464 4352 2189 3706 414 1437 1603 171 1204 2787 3
Medium 3 69 7 86 3 4 2 4 11 5 1 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: ENST00000361390   ⟹   ENSP00000354687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblMT3,307 - 4,262 (+)Ensembl
Protein Sequences
Protein RefSeqs YP_003024026 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58943 (Get FASTA)   NCBI Sequence Viewer  
  P03886 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: ENSP00000354687   ⟸   ENST00000361390


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_012920.1:m.3460G>A single nucleotide variant Leber's optic atrophy [RCV000010370]|Leigh syndrome [RCV000143998]|MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 [RCV000735416]|not provided [RCV000757484] ChrMT:3460 [GRCh38]
ChrMT:3460 [GRCh37]
pathogenic
m.4160T>C single nucleotide variant Leber's optic atrophy [RCV000010372] ChrMT:4160 [GRCh38]
ChrMT:4160 [GRCh37]
pathogenic
m.4171C>A single nucleotide variant Leber's optic atrophy [RCV000010384] ChrMT:4171 [GRCh38]
ChrMT:4171 [GRCh37]
pathogenic|likely pathogenic
m.3733G>A single nucleotide variant Leber's optic atrophy [RCV000010389] ChrMT:3733 [GRCh38]
ChrMT:3733 [GRCh37]
pathogenic
NC_012920.1:m.3902_3908inv inversion MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3 [RCV000010383] ChrMT:3902..3908 [GRCh38]
ChrMT:3902..3908 [GRCh37]
pathogenic
m.4216T>C single nucleotide variant Leber's optic atrophy [RCV000010373]|Leigh syndrome [RCV000853749]|not provided [RCV000709875] ChrMT:4216 [GRCh38]
ChrMT:4216 [GRCh37]
benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
m.3394T>C single nucleotide variant Leber's optic atrophy [RCV000010375]|Leigh syndrome [RCV000853650]|not provided [RCV000507319] ChrMT:3394 [GRCh38]
ChrMT:3394 [GRCh37]
pathogenic|benign
m.3397A>G single nucleotide variant Alzheimer disease [RCV000010376]|Leigh syndrome [RCV000853653]|Parkinson disease, late-onset [RCV000010377] ChrMT:3397 [GRCh38]
ChrMT:3397 [GRCh37]
pathogenic|benign
m.4136A>G single nucleotide variant Leber's optic atrophy [RCV000010378]|Leigh syndrome [RCV000853739] ChrMT:4136 [GRCh38]
ChrMT:4136 [GRCh37]
pathogenic|benign
m.3308T>C single nucleotide variant Carcinoma of colon [RCV000010379]|Leigh syndrome [RCV000853627]|SUDDEN INFANT DEATH SYNDROME [RCV000010380]|not specified [RCV000239184] ChrMT:3308 [GRCh38]
ChrMT:3308 [GRCh37]
pathogenic|benign|likely benign
m.3308T>G single nucleotide variant Leigh syndrome [RCV000853629]|SUDDEN INFANT DEATH SYNDROME [RCV000010381] ChrMT:3308 [GRCh38]
ChrMT:3308 [GRCh37]
pathogenic|likely benign
m.3796A>G single nucleotide variant Dystonia, adult-onset [RCV000010382]|Leigh syndrome [RCV000853708]|not provided [RCV000992363] ChrMT:3796 [GRCh38]
ChrMT:3796 [GRCh37]
pathogenic|benign
m.3697G>A single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010385]|Leber optic atrophy and dystonia [RCV000010386]|Leber's optic atrophy [RCV000056168] ChrMT:3697 [GRCh38]
ChrMT:3697 [GRCh37]
pathogenic
m.3946G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010387]|Leigh syndrome [RCV000853718] ChrMT:3946 [GRCh38]
ChrMT:3946 [GRCh37]
pathogenic
m.3949T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010388] ChrMT:3949 [GRCh38]
ChrMT:3949 [GRCh37]
pathogenic
m.3388C>A single nucleotide variant Deafness, nonsyndromic sensorineural, mitochondrial [RCV000022892]|Leigh syndrome [RCV000853648] ChrMT:3388 [GRCh38]
ChrMT:3388 [GRCh37]
pathogenic|benign
m.3635G>A single nucleotide variant Leber's optic atrophy [RCV000055707] ChrMT:3635 [GRCh38]
ChrMT:3635 [GRCh37]
pathogenic|likely pathogenic
m.3700G>A single nucleotide variant Leber's optic atrophy [RCV000055708]|Visual loss [RCV000415448] ChrMT:3700 [GRCh38]
ChrMT:3700 [GRCh37]
pathogenic
m.4025C>T single nucleotide variant Leber's optic atrophy [RCV000055709]|Leigh syndrome [RCV000853724] ChrMT:4025 [GRCh38]
ChrMT:4025 [GRCh37]
pathogenic|benign
m.3376G>A single nucleotide variant Leber's optic atrophy [RCV000056167] ChrMT:3376 [GRCh38]
ChrMT:3376 [GRCh37]
pathogenic
NC_012920.1:m.3481G>A single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000853660]|Leigh syndrome [RCV000143999] ChrMT:3481 [GRCh38]
ChrMT:3481 [GRCh37]
pathogenic
NC_012920.1:m.3890G>A single nucleotide variant Leigh syndrome [RCV000144000] ChrMT:3890 [GRCh38]
ChrMT:3890 [GRCh37]
pathogenic
NC_012920.1:m.3928G>C single nucleotide variant Leigh syndrome [RCV000144023] ChrMT:3928 [GRCh38]
ChrMT:3928 [GRCh37]
pathogenic|uncertain significance
NC_012920.1:m.3843A>G single nucleotide variant not provided [RCV000224229] ChrMT:3843 [GRCh38]
ChrMT:3843 [GRCh37]
likely benign
NC_012920.1:m.4023T>C single nucleotide variant not provided [RCV000224402] ChrMT:4023 [GRCh38]
ChrMT:4023 [GRCh37]
likely benign
NC_012920.1:m.4218T>C single nucleotide variant not provided [RCV000224431] ChrMT:4218 [GRCh38]
ChrMT:4218 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3447A>G single nucleotide variant not provided [RCV000224536] ChrMT:3447 [GRCh38]
ChrMT:3447 [GRCh37]
benign
NC_012920.1:m.3396T>C single nucleotide variant not provided [RCV000224662] ChrMT:3396 [GRCh38]
ChrMT:3396 [GRCh37]
likely benign
NC_012920.1(MT-ND1):m.3990C>T single nucleotide variant not provided [RCV000224690] ChrMT:3990 [GRCh38]
ChrMT:3990 [GRCh37]
benign
NC_012920.1(MT-ND1):m.4219G>A single nucleotide variant Leigh syndrome [RCV000853750]|not provided [RCV000224714] ChrMT:4219 [GRCh38]
ChrMT:4219 [GRCh37]
benign|likely benign
NC_012920.1:m.3582C>T single nucleotide variant not provided [RCV000224803] ChrMT:3582 [GRCh38]
ChrMT:3582 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.3796A>T single nucleotide variant Leigh syndrome [RCV000853709]|not provided [RCV000224953] ChrMT:3796 [GRCh38]
ChrMT:3796 [GRCh37]
benign|likely benign
NC_012920.1(MT-ND1):m.3849G>A single nucleotide variant not provided [RCV000224955] ChrMT:3849 [GRCh38]
ChrMT:3849 [GRCh37]
benign|likely benign
NC_012920.1:m.3918G>C single nucleotide variant not specified [RCV000223701] ChrMT:3918 [GRCh38]
ChrMT:3918 [GRCh37]
uncertain significance
NC_012920.1:m.4135T>C single nucleotide variant Leigh syndrome [RCV000853738]|not specified [RCV000223794] ChrMT:4135 [GRCh38]
ChrMT:4135 [GRCh37]
benign|uncertain significance
NC_012920.1:m.3548T>C single nucleotide variant Leigh syndrome [RCV000853676]|not specified [RCV000223756] ChrMT:3548 [GRCh38]
ChrMT:3548 [GRCh37]
benign|uncertain significance
NC_012920.1:m.3907G>A single nucleotide variant not specified [RCV000223871] ChrMT:3907 [GRCh38]
ChrMT:3907 [GRCh37]
uncertain significance
NC_012920.1:m.3991A>G single nucleotide variant not provided [RCV000757485] ChrMT:3991 [GRCh38]
ChrMT:3991 [GRCh37]
uncertain significance
NC_012920.1:m.3505A>G single nucleotide variant Leigh syndrome [RCV000853666]|not provided [RCV000992358]|not specified [RCV000238711] ChrMT:3505 [GRCh38]
ChrMT:3505 [GRCh37]
benign
NC_012920.1:m.3624A>G single nucleotide variant Global developmental delay [RCV000408941] ChrMT:3624 [GRCh38]
ChrMT:3624 [GRCh37]
uncertain significance
NC_012920.1(MT-ND1):m.4132G>A single nucleotide variant Leigh syndrome [RCV000853737]|not provided [RCV000426885] ChrMT:4132 [GRCh38]
ChrMT:4132 [GRCh37]
likely benign|uncertain significance
NC_012920.1:m.3498C>T single nucleotide variant not provided [RCV000435868] ChrMT:3498 [GRCh38]
ChrMT:3498 [GRCh37]
likely benign
NC_012920.1:m.4137C>T single nucleotide variant not provided [RCV000514068] ChrMT:4137 [GRCh38]
ChrMT:4137 [GRCh37]
likely benign
NC_012920.1:m.3307A>T single nucleotide variant Leigh syndrome [RCV000853626] ChrMT:3307 [GRCh38]
ChrMT:3307 [GRCh37]
uncertain significance
NC_012920.1:m.3320A>G single nucleotide variant Leigh syndrome [RCV000853634] ChrMT:3320 [GRCh38]
ChrMT:3320 [GRCh37]
uncertain significance
NC_012920.1:m.3328C>T single nucleotide variant Leigh syndrome [RCV000853635] ChrMT:3328 [GRCh38]
ChrMT:3328 [GRCh37]
uncertain significance
NC_012920.1:m.3350T>C single nucleotide variant Leigh syndrome [RCV000853642] ChrMT:3350 [GRCh38]
ChrMT:3350 [GRCh37]
benign
NC_012920.1:m.3368T>C single nucleotide variant Leigh syndrome [RCV000853645] ChrMT:3368 [GRCh38]
ChrMT:3368 [GRCh37]
likely benign
NC_012920.1:m.3380G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000853646] ChrMT:3380 [GRCh38]
ChrMT:3380 [GRCh37]
pathogenic
NC_012920.1:m.3399A>T single nucleotide variant Leigh syndrome [RCV000853655] ChrMT:3399 [GRCh38]
ChrMT:3399 [GRCh37]
benign
NC_012920.1:m.3434A>G single nucleotide variant Leigh syndrome [RCV000853659] ChrMT:3434 [GRCh38]
ChrMT:3434 [GRCh37]
benign
NC_012920.1:m.3492A>C single nucleotide variant Leigh syndrome [RCV000853662] ChrMT:3492 [GRCh38]
ChrMT:3492 [GRCh37]
likely benign
NC_012920.1:m.3511A>G single nucleotide variant Leigh syndrome [RCV000853669] ChrMT:3511 [GRCh38]
ChrMT:3511 [GRCh37]
benign
NC_012920.1:m.3523A>G single nucleotide variant Leigh syndrome [RCV000853671] ChrMT:3523 [GRCh38]
ChrMT:3523 [GRCh37]
benign
NC_012920.1:m.3526G>A single nucleotide variant Leigh syndrome [RCV000853672] ChrMT:3526 [GRCh38]
ChrMT:3526 [GRCh37]
uncertain significance
NC_012920.1:m.3569C>T single nucleotide variant Leigh syndrome [RCV000853678] ChrMT:3569 [GRCh38]
ChrMT:3569 [GRCh37]
uncertain significance
NC_012920.1:m.3571C>T single nucleotide variant Leigh syndrome [RCV000853679] ChrMT:3571 [GRCh38]
ChrMT:3571 [GRCh37]
benign
NC_012920.1:m.3622C>A single nucleotide variant Leigh syndrome [RCV000853684] ChrMT:3622 [GRCh38]
ChrMT:3622 [GRCh37]
uncertain significance
NC_012920.1:m.3643G>A single nucleotide variant Leigh syndrome [RCV000853687] ChrMT:3643 [GRCh38]
ChrMT:3643 [GRCh37]
uncertain significance
NC_012920.1:m.3652A>G single nucleotide variant Leigh syndrome [RCV000853689] ChrMT:3652 [GRCh38]
ChrMT:3652 [GRCh37]
uncertain significance
NC_012920.1:m.3661T>G single nucleotide variant Leigh syndrome [RCV000853691] ChrMT:3661 [GRCh38]
ChrMT:3661 [GRCh37]
uncertain significance
NC_012920.1:m.3670G>A single nucleotide variant Leigh syndrome [RCV000853692]|Ptosis [RCV000993795] ChrMT:3670 [GRCh38]
ChrMT:3670 [GRCh37]
uncertain significance
NC_012920.1:m.3701C>T single nucleotide variant Leigh syndrome [RCV000853693] ChrMT:3701 [GRCh38]
ChrMT:3701 [GRCh37]
uncertain significance
NC_012920.1:m.3736G>A single nucleotide variant Leigh syndrome [RCV000853699] ChrMT:3736 [GRCh38]
ChrMT:3736 [GRCh37]
benign
NC_012920.1:m.3745G>A single nucleotide variant Leigh syndrome [RCV000853700] ChrMT:3745 [GRCh38]
ChrMT:3745 [GRCh37]
benign
NC_012920.1:m.3749T>C single nucleotide variant Leigh syndrome [RCV000853702] ChrMT:3749 [GRCh38]
ChrMT:3749 [GRCh37]
uncertain significance
NC_012920.1:m.3751A>G single nucleotide variant Leigh syndrome [RCV000853703] ChrMT:3751 [GRCh38]
ChrMT:3751 [GRCh37]
uncertain significance
NC_012920.1:m.3775A>T single nucleotide variant Leigh syndrome [RCV000853706] ChrMT:3775 [GRCh38]
ChrMT:3775 [GRCh37]
uncertain significance
NC_012920.1:m.3793T>C single nucleotide variant Leigh syndrome [RCV000853707] ChrMT:3793 [GRCh38]
ChrMT:3793 [GRCh37]
uncertain significance
NC_012920.1:m.3887A>G single nucleotide variant Leigh syndrome [RCV000853713]|See cases [RCV001198276] ChrMT:3887 [GRCh38]
ChrMT:3887 [GRCh37]
uncertain significance
NC_012920.1:m.3910G>A single nucleotide variant Leigh syndrome [RCV000853715] ChrMT:3910 [GRCh38]
ChrMT:3910 [GRCh37]
uncertain significance
NC_012920.1:m.3937T>C single nucleotide variant Leigh syndrome [RCV000853716] ChrMT:3937 [GRCh38]
ChrMT:3937 [GRCh37]
uncertain significance
NC_012920.1:m.4012A>G single nucleotide variant Leigh syndrome [RCV000853720] ChrMT:4012 [GRCh38]
ChrMT:4012 [GRCh37]
benign
NC_012920.1:m.4013C>T single nucleotide variant Leigh syndrome [RCV000853721] ChrMT:4013 [GRCh38]
ChrMT:4013 [GRCh37]
benign
NC_012920.1:m.4021A>G single nucleotide variant Leigh syndrome [RCV000853722] ChrMT:4021 [GRCh38]
ChrMT:4021 [GRCh37]
benign
NC_012920.1:m.4024A>G single nucleotide variant Leigh syndrome [RCV000853723] ChrMT:4024 [GRCh38]
ChrMT:4024 [GRCh37]
benign
NC_012920.1:m.4094C>T single nucleotide variant Leigh syndrome [RCV000853733] ChrMT:4094 [GRCh38]
ChrMT:4094 [GRCh37]
uncertain significance
NC_012920.1:m.4165C>G single nucleotide variant Leigh syndrome [RCV000853743] ChrMT:4165 [GRCh38]
ChrMT:4165 [GRCh37]
uncertain significance
NC_012920.1:m.4193T>C single nucleotide variant Leigh syndrome [RCV000853746] ChrMT:4193 [GRCh38]
ChrMT:4193 [GRCh37]
uncertain significance
NC_012920.1:m.4226T>C single nucleotide variant Leigh syndrome [RCV000853752] ChrMT:4226 [GRCh38]
ChrMT:4226 [GRCh37]
likely benign
NC_012920.1:m.3555T>C single nucleotide variant not provided [RCV000992362] ChrMT:3555 [GRCh38]
ChrMT:3555 [GRCh37]
likely benign
NC_012920.1:m.3535T>C single nucleotide variant not provided [RCV000992360] ChrMT:3535 [GRCh38]
ChrMT:3535 [GRCh37]
benign
NC_012920.1:m.3915G>A single nucleotide variant not provided [RCV000992364] ChrMT:3915 [GRCh38]
ChrMT:3915 [GRCh37]
benign
NC_012920.1:m.4167C>T single nucleotide variant not provided [RCV000992367] ChrMT:4167 [GRCh38]
ChrMT:4167 [GRCh37]
likely benign
NC_012920.1:m.4248T>C single nucleotide variant not provided [RCV000992369] ChrMT:4248 [GRCh38]
ChrMT:4248 [GRCh37]
benign
NC_012920.1:m.4158A>G single nucleotide variant not provided [RCV000992366] ChrMT:4158 [GRCh38]
ChrMT:4158 [GRCh37]
benign
NC_012920.1:m.3513C>T single nucleotide variant not provided [RCV000992359] ChrMT:3513 [GRCh38]
ChrMT:3513 [GRCh37]
benign
NC_012920.1:m.3921C>A single nucleotide variant not provided [RCV000992365] ChrMT:3921 [GRCh38]
ChrMT:3921 [GRCh37]
benign
NC_012920.1:m.3313A>G single nucleotide variant Leigh syndrome [RCV000853631] ChrMT:3313 [GRCh38]
ChrMT:3313 [GRCh37]
uncertain significance
NC_012920.1:m.3340C>T single nucleotide variant Leigh syndrome [RCV000853639] ChrMT:3340 [GRCh38]
ChrMT:3340 [GRCh37]
likely benign
NC_012920.1:m.3419A>G single nucleotide variant Leigh syndrome [RCV000853656] ChrMT:3419 [GRCh38]
ChrMT:3419 [GRCh37]
uncertain significance
NC_012920.1:m.3496G>A single nucleotide variant Leigh syndrome [RCV000853663] ChrMT:3496 [GRCh38]
ChrMT:3496 [GRCh37]
uncertain significance
NC_012920.1:m.3508A>G single nucleotide variant Leigh syndrome [RCV000853667] ChrMT:3508 [GRCh38]
ChrMT:3508 [GRCh37]
uncertain significance
NC_012920.1:m.3628A>T single nucleotide variant Leigh syndrome [RCV000853685] ChrMT:3628 [GRCh38]
ChrMT:3628 [GRCh37]
likely benign
NC_012920.1:m.3866T>C single nucleotide variant Leigh syndrome [RCV000853712] ChrMT:3866 [GRCh38]
ChrMT:3866 [GRCh37]
benign
NC_012920.1:m.4055T>C single nucleotide variant Leigh syndrome [RCV000853727] ChrMT:4055 [GRCh38]
ChrMT:4055 [GRCh37]
uncertain significance
NC_012920.1:m.4153G>A single nucleotide variant Leigh syndrome [RCV000853742] ChrMT:4153 [GRCh38]
ChrMT:4153 [GRCh37]
uncertain significance
NC_012920.1:m.3308delinsAC indel Leigh syndrome [RCV000853628] ChrMT:3308 [GRCh38]
ChrMT:3308 [GRCh37]
uncertain significance
NC_012920.1:m.3338T>C single nucleotide variant Leigh syndrome [RCV000853638] ChrMT:3338 [GRCh38]
ChrMT:3338 [GRCh37]
benign
NC_012920.1:m.3391G>A single nucleotide variant Leigh syndrome [RCV000853649] ChrMT:3391 [GRCh38]
ChrMT:3391 [GRCh37]
benign
NC_012920.1:m.3395A>G single nucleotide variant Leigh syndrome [RCV000853652] ChrMT:3395 [GRCh38]
ChrMT:3395 [GRCh37]
likely benign
NC_012920.1:m.3427G>A single nucleotide variant Leigh syndrome [RCV000853658] ChrMT:3427 [GRCh38]
ChrMT:3427 [GRCh37]
uncertain significance
NC_012920.1:m.3488T>C single nucleotide variant Leigh syndrome [RCV000853661] ChrMT:3488 [GRCh38]
ChrMT:3488 [GRCh37]
uncertain significance
NC_012920.1:m.3502T>C single nucleotide variant Mitochondrial myopathy, infantile, transient [RCV000853665] ChrMT:3502 [GRCh38]
ChrMT:3502 [GRCh37]
likely pathogenic
NC_012920.1:m.3547A>G single nucleotide variant Leigh syndrome [RCV000853675] ChrMT:3547 [GRCh38]
ChrMT:3547 [GRCh37]
benign
NC_012920.1:m.3565A>G single nucleotide variant Leigh syndrome [RCV000853677] ChrMT:3565 [GRCh38]
ChrMT:3565 [GRCh37]
benign
NC_012920.1:m.3592G>A single nucleotide variant Leigh syndrome [RCV000853681] ChrMT:3592 [GRCh38]
ChrMT:3592 [GRCh37]
benign
NC_012920.1:m.3593T>C single nucleotide variant Leigh syndrome [RCV000853682] ChrMT:3593 [GRCh38]
ChrMT:3593 [GRCh37]
benign
NC_012920.1:m.3607G>A single nucleotide variant Leigh syndrome [RCV000853683] ChrMT:3607 [GRCh38]
ChrMT:3607 [GRCh37]
uncertain significance
NC_012920.1:m.3640G>A single nucleotide variant Leigh syndrome [RCV000853686] ChrMT:3640 [GRCh38]
ChrMT:3640 [GRCh37]
likely benign
NC_012920.1:m.3764C>T single nucleotide variant Leigh syndrome [RCV000853704] ChrMT:3764 [GRCh38]
ChrMT:3764 [GRCh37]
uncertain significance
NC_012920.1:m.3772A>G single nucleotide variant Leigh syndrome [RCV000853705] ChrMT:3772 [GRCh38]
ChrMT:3772 [GRCh37]
uncertain significance
NC_012920.1:m.3892A>G single nucleotide variant Leigh syndrome [RCV000853714] ChrMT:3892 [GRCh38]
ChrMT:3892 [GRCh37]
benign
NC_012920.1:m.3992C>T single nucleotide variant Leigh syndrome [RCV000853719] ChrMT:3992 [GRCh38]
ChrMT:3992 [GRCh37]
benign
NC_012920.1:m.4048G>A single nucleotide variant Leigh syndrome [RCV000853726] ChrMT:4048 [GRCh38]
ChrMT:4048 [GRCh37]
benign
NC_012920.1:m.4058C>T single nucleotide variant Leigh syndrome [RCV000853728] ChrMT:4058 [GRCh38]
ChrMT:4058 [GRCh37]
likely benign
NC_012920.1:m.4105A>G single nucleotide variant Leigh syndrome [RCV000853734] ChrMT:4105 [GRCh38]
ChrMT:4105 [GRCh37]
uncertain significance
NC_012920.1:m.4148G>A single nucleotide variant Leigh syndrome [RCV000853741] ChrMT:4148 [GRCh38]
ChrMT:4148 [GRCh37]
uncertain significance
NC_012920.1:m.4234A>G single nucleotide variant Leigh syndrome [RCV000853755] ChrMT:4234 [GRCh38]
ChrMT:4234 [GRCh37]
likely benign
NC_012920.1:m.3335T>C single nucleotide variant Leigh syndrome [RCV000853636] ChrMT:3335 [GRCh38]
ChrMT:3335 [GRCh37]
benign
NC_012920.1:m.3344T>C single nucleotide variant Leigh syndrome [RCV000853640] ChrMT:3344 [GRCh38]
ChrMT:3344 [GRCh37]
likely benign
NC_012920.1:m.3357G>C single nucleotide variant Leigh syndrome [RCV000853643]|not provided [RCV001249404] ChrMT:3357 [GRCh38]
ChrMT:3357 [GRCh37]
uncertain significance|not provided
NC_012920.1:m.3385A>G single nucleotide variant Leigh syndrome [RCV000853647] ChrMT:3385 [GRCh38]
ChrMT:3385 [GRCh37]
likely benign
NC_012920.1:m.3398T>C single nucleotide variant Leigh syndrome [RCV000853654] ChrMT:3398 [GRCh38]
ChrMT:3398 [GRCh37]
benign
NC_012920.1:m.3653T>C single nucleotide variant Leigh syndrome [RCV000853690] ChrMT:3653 [GRCh38]
ChrMT:3653 [GRCh37]
uncertain significance
NC_012920.1:m.3715G>A single nucleotide variant Leigh syndrome [RCV000853698] ChrMT:3715 [GRCh38]
ChrMT:3715 [GRCh37]
uncertain significance
NC_012920.1:m.4079A>G single nucleotide variant Leigh syndrome [RCV000853729] ChrMT:4079 [GRCh38]
ChrMT:4079 [GRCh37]
benign
NC_012920.1:m.4084G>A single nucleotide variant Leigh syndrome [RCV000853731] ChrMT:4084 [GRCh38]
ChrMT:4084 [GRCh37]
likely benign
NC_012920.1:m.4172T>A single nucleotide variant Leigh syndrome [RCV000853744] ChrMT:4172 [GRCh38]
ChrMT:4172 [GRCh37]
benign
NC_012920.1:m.4205T>C single nucleotide variant Leigh syndrome [RCV000853747] ChrMT:4205 [GRCh38]
ChrMT:4205 [GRCh37]
likely benign
NC_012920.1:m.4231A>G single nucleotide variant Leigh syndrome [RCV000853753] ChrMT:4231 [GRCh38]
ChrMT:4231 [GRCh37]
likely benign
NC_012920.1:m.4247T>C single nucleotide variant Leigh syndrome [RCV000853758] ChrMT:4247 [GRCh38]
ChrMT:4247 [GRCh37]
uncertain significance
NC_012920.1:m.4258A>G single nucleotide variant Leigh syndrome [RCV000853759] ChrMT:4258 [GRCh38]
ChrMT:4258 [GRCh37]
uncertain significance
NC_012920.1:m.3316G>C single nucleotide variant Leigh syndrome [RCV000853632] ChrMT:3316 [GRCh38]
ChrMT:3316 [GRCh37]
uncertain significance
NC_012920.1:m.3316G>A single nucleotide variant Leigh syndrome [RCV000853633] ChrMT:3316 [GRCh38]
ChrMT:3316 [GRCh37]
benign
NC_012920.1:m.3337G>A single nucleotide variant Leigh syndrome [RCV000853637] ChrMT:3337 [GRCh38]
ChrMT:3337 [GRCh37]
benign
NC_012920.1:m.3349A>G single nucleotide variant Leigh syndrome [RCV000853641] ChrMT:3349 [GRCh38]
ChrMT:3349 [GRCh37]
benign
NC_012920.1:m.3358G>A single nucleotide variant Leigh syndrome [RCV000853644] ChrMT:3358 [GRCh38]
ChrMT:3358 [GRCh37]
uncertain significance
NC_012920.1:m.3395A>C single nucleotide variant Leigh syndrome [RCV000853651] ChrMT:3395 [GRCh38]
ChrMT:3395 [GRCh37]
uncertain significance
NC_012920.1:m.3421G>A single nucleotide variant Leigh syndrome [RCV000853657] ChrMT:3421 [GRCh38]
ChrMT:3421 [GRCh37]
benign
NC_012920.1:m.3497C>T single nucleotide variant Leigh syndrome [RCV000853664] ChrMT:3497 [GRCh38]
ChrMT:3497 [GRCh37]
benign
NC_012920.1:m.3509T>C single nucleotide variant Leigh syndrome [RCV000853668] ChrMT:3509 [GRCh38]
ChrMT:3509 [GRCh37]
uncertain significance
NC_012920.1:m.3520A>G single nucleotide variant Leigh syndrome [RCV000853670] ChrMT:3520 [GRCh38]
ChrMT:3520 [GRCh37]
benign
NC_012920.1:m.3533C>T single nucleotide variant Leigh syndrome [RCV000853673] ChrMT:3533 [GRCh38]
ChrMT:3533 [GRCh37]
likely benign
NC_012920.1:m.3644T>C single nucleotide variant Leigh syndrome [RCV000853688] ChrMT:3644 [GRCh38]
ChrMT:3644 [GRCh37]
likely benign
NC_012920.1:m.3746C>T single nucleotide variant Leigh syndrome [RCV000853701] ChrMT:3746 [GRCh38]
ChrMT:3746 [GRCh37]
benign
NC_012920.1:m.3808A>G single nucleotide variant Leigh syndrome [RCV000853710] ChrMT:3808 [GRCh38]
ChrMT:3808 [GRCh37]
likely benign
NC_012920.1:m.4029C>A single nucleotide variant Leigh syndrome [RCV000853725] ChrMT:4029 [GRCh38]
ChrMT:4029 [GRCh37]
likely benign
NC_012920.1:m.4093A>G single nucleotide variant Leigh syndrome [RCV000853732] ChrMT:4093 [GRCh38]
ChrMT:4093 [GRCh37]
benign
NC_012920.1:m.4123A>G single nucleotide variant Leigh syndrome [RCV000853735] ChrMT:4123 [GRCh38]
ChrMT:4123 [GRCh37]
benign
NC_012920.1:m.4225A>G single nucleotide variant Leigh syndrome [RCV000853751] ChrMT:4225 [GRCh38]
ChrMT:4225 [GRCh37]
benign
NC_012920.1:m.4238T>C single nucleotide variant Leigh syndrome [RCV000853756] ChrMT:4238 [GRCh38]
ChrMT:4238 [GRCh37]
uncertain significance
NC_012920.1:m.3310C>T single nucleotide variant Leigh syndrome [RCV000853630] ChrMT:3310 [GRCh38]
ChrMT:3310 [GRCh37]
uncertain significance
NC_012920.1:m.3535T>A single nucleotide variant Leigh syndrome [RCV000853674] ChrMT:3535 [GRCh38]
ChrMT:3535 [GRCh37]
likely benign
NC_012920.1:m.3571del deletion Mitochondrial myopathy, infantile, transient [RCV000853680] ChrMT:3566 [GRCh38]
ChrMT:3566 [GRCh37]
likely pathogenic
NC_012920.1:m.3709G>A single nucleotide variant Leigh syndrome [RCV000853694] ChrMT:3709 [GRCh38]
ChrMT:3709 [GRCh37]
uncertain significance
NC_012920.1:m.3710C>T single nucleotide variant Leigh syndrome [RCV000853695] ChrMT:3710 [GRCh38]
ChrMT:3710 [GRCh37]
uncertain significance
NC_012920.1:m.3712G>A single nucleotide variant Leigh syndrome [RCV000853696] ChrMT:3712 [GRCh38]
ChrMT:3712 [GRCh37]
uncertain significance
NC_012920.1:m.3713T>C single nucleotide variant Leigh syndrome [RCV000853697] ChrMT:3713 [GRCh38]
ChrMT:3713 [GRCh37]
uncertain significance
NC_012920.1:m.3865A>G single nucleotide variant Leigh syndrome [RCV000853711] ChrMT:3865 [GRCh38]
ChrMT:3865 [GRCh37]
benign
NC_012920.1:m.3943A>G single nucleotide variant Leigh syndrome [RCV000853717] ChrMT:3943 [GRCh38]
ChrMT:3943 [GRCh37]
likely benign
NC_012920.1:m.4082T>C single nucleotide variant Leigh syndrome [RCV000853730] ChrMT:4082 [GRCh38]
ChrMT:4082 [GRCh37]
uncertain significance
NC_012920.1:m.4129A>G single nucleotide variant Leigh syndrome [RCV000853736] ChrMT:4129 [GRCh38]
ChrMT:4129 [GRCh37]
benign
NC_012920.1:m.4142G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000853740] ChrMT:4142 [GRCh38]
ChrMT:4142 [GRCh37]
likely pathogenic
NC_012920.1:m.4180A>G single nucleotide variant Leigh syndrome [RCV000853745] ChrMT:4180 [GRCh38]
ChrMT:4180 [GRCh37]
uncertain significance
NC_012920.1:m.4211T>C single nucleotide variant Leigh syndrome [RCV000853748] ChrMT:4211 [GRCh38]
ChrMT:4211 [GRCh37]
uncertain significance
NC_012920.1:m.4232T>C single nucleotide variant Leigh syndrome [RCV000853754] ChrMT:4232 [GRCh38]
ChrMT:4232 [GRCh37]
benign
NC_012920.1:m.4243A>G single nucleotide variant Leigh syndrome [RCV000853757] ChrMT:4243 [GRCh38]
ChrMT:4243 [GRCh37]
likely benign
NC_012920.1:m.3761C>A single nucleotide variant Mitochondrial diseases [RCV000984483] ChrMT:3761 [GRCh38]
ChrMT:3761 [GRCh37]
pathogenic
NC_012920.1:m.3552T>A single nucleotide variant not provided [RCV000992361] ChrMT:3552 [GRCh38]
ChrMT:3552 [GRCh37]
benign
NC_012920.1:m.4242C>T single nucleotide variant not provided [RCV000992368] ChrMT:4242 [GRCh38]
ChrMT:4242 [GRCh37]
likely benign
NC_012920.1:m.3504T>C single nucleotide variant not provided [RCV001288249] ChrMT:3504 [GRCh38]
ChrMT:3504 [GRCh37]
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7455 AgrOrtholog
COSMIC MT-ND1 COSMIC
Ensembl Genes ENSG00000198888 Ensembl, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000354687 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361390 UniProtKB/Swiss-Prot
GTEx ENSG00000198888 GTEx
HGNC ID HGNC:7455 ENTREZGENE
Human Proteome Map MT-ND1 Human Proteome Map
InterPro NADH_UbQ_OxRdtase_su1/FPO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADH_UbQ_OxRdtase_su1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4535 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4535 ENTREZGENE
OMIM 516000 OMIM
PANTHER PTHR11432 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NADHdh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31259 PharmGKB
PROSITE COMPLEX1_ND1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COMPLEX1_ND1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt NU1M_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  U5Z754 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary C0JKH6 UniProtKB/Swiss-Prot
  Q37523 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-02-26 MT-ND1  mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1  MT-ND1  mitochondrially encoded NADH dehydrogenase 1  Symbol and/or name change 19259463 PROVISIONAL
2015-05-19 MT-ND1  mitochondrially encoded NADH dehydrogenase 1  ND1    Symbol and/or name change 5135510 APPROVED
2014-01-07 ND1  mitochondrially encoded NADH dehydrogenase 1  MT-ND1    Symbol and/or name change 5135510 APPROVED
2012-10-09 MT-ND1  mitochondrially encoded NADH dehydrogenase 1  ND1    Symbol and/or name change 5135510 APPROVED
2012-07-13 ND1    MT-ND1  mitochondrially encoded NADH dehydrogenase 1  Symbol and/or name change 5135510 APPROVED