MT-ND5 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: MT-ND5 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5) Homo sapiens
Analyze
Symbol: MT-ND5
Name: mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
RGD ID: 1347448
HGNC Page HGNC
Description: Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Part of mitochondrial respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and MELAS syndrome; INTERACTS WITH 3-isobutyl-1-methyl-7H-xanthine; acrylamide; aflatoxin B1.
Type: protein-coding
RefSeq Status: PROVISIONAL
Also known as: mitochondrially encoded NADH dehydrogenase 5; MTND5; NADH dehydrogenase subunit 5; NADH dehydrogenase, subunit 5 (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 EnsemblMT12,337 - 14,148 (+)EnsemblGRCh38hg38GRCh38
GRCh38MT12,337 - 14,148 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37MT12,337 - 14,148 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT12,338 - 14,149 (+)NCBINCBI36hg18NCBI36


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal left ventricular function  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormal renal tubule morphology  (IAGP)
Abnormal speech prosody  (IAGP)
Abnormality of Krebs cycle metabolism  (IAGP)
Abnormality of movement  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Aphasia  (IAGP)
Aplasia/Hypoplasia of the cerebral white matter  (IAGP)
Apnea  (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)
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)
Cognitive impairment  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Dementia  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Depression  (IAGP)
Developmental cataract  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilated cardiomyopathy  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
EMG abnormality  (IAGP)
Encephalopathy  (IAGP)
Episodic respiratory distress  (IAGP)
Episodic vomiting  (IAGP)
Erythema  (IAGP)
Exercise intolerance  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Fluctuations in consciousness  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Focal-onset seizure  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Growth abnormality  (IAGP)
Hearing impairment  (IAGP)
Hemianopia  (IAGP)
Hemiparesis  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Heterogeneous  (IAGP)
Hyperalaninemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyperventilation  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoparathyroidism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypothermia  (IAGP)
Hypothyroidism  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Incomplete penetrance  (IAGP)
Increased CSF lactate  (IAGP)
Increased CSF protein  (IAGP)
Increased serum lactate  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Lactic acidosis  (IAGP)
Lacticaciduria  (IAGP)
Leber optic atrophy  (IAGP)
Left ventricular hypertrophy  (IAGP)
Low plasma citrulline  (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)
Multiple glomerular cysts  (IAGP)
Multiple lipomas  (IAGP)
Muscle weakness  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Ophthalmoparesis  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic neuropathy  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Personality changes  (IAGP)
Pigmentary retinopathy  (IAGP)
Polyneuropathy  (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 pancreatitis  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Retinal telangiectasia  (IAGP)
Retinal vascular tortuosity  (IAGP)
Rod-cone dystrophy  (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)
Stroke-like episode  (IAGP)
Stuttering  (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:3921850   PMID:12031626   PMID:12611891   PMID:12772452   PMID:14520659   PMID:14557590   PMID:14639589   PMID:14730434   PMID:14759509   PMID:15250827   PMID:15596151   PMID:15931342  
PMID:15946665   PMID:15975594   PMID:16331560   PMID:17106447   PMID:17317336   PMID:17341490   PMID:17400793   PMID:17614984   PMID:17702497   PMID:17898419   PMID:17940288   PMID:18270557  
PMID:18332249   PMID:18396045   PMID:18546119   PMID:18626009   PMID:18709563   PMID:19026397   PMID:19050702   PMID:19054921   PMID:19617458   PMID:19758471   PMID:20301353   PMID:20301403  
PMID:20301411   PMID:20643099   PMID:20936779   PMID:21154318   PMID:21830212   PMID:21873635   PMID:22262461   PMID:22759514   PMID:22947169   PMID:22990118   PMID:24344204   PMID:24440288  
PMID:25115399   PMID:25756807   PMID:26186194   PMID:26894521   PMID:27110715   PMID:27344355   PMID:27422531   PMID:28335001   PMID:28380382   PMID:28514442   PMID:29117863   PMID:29506874  
PMID:30587702   PMID:30906981   PMID:31527615   PMID:31617661   PMID:32807901  


Genomics

Comparative Map Data
MT-ND5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblMT12,337 - 14,148 (+)EnsemblGRCh38hg38GRCh38
GRCh38MT12,337 - 14,148 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37MT12,337 - 14,148 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT12,338 - 14,149 (+)NCBINCBI36hg18NCBI36
mt-Nd5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39MT11,742 - 13,565 (+)NCBIGRCm39mm39
GRCm39 EnsemblMT11,742 - 13,565 (+)Ensembl
GRCm38MT11,742 - 13,565 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblMT11,742 - 13,565 (+)EnsemblGRCm38mm10GRCm38
MGSCv37MT11,742 - 13,565 (+)NCBIGRCm37mm9NCBIm37
Mt-nd5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2MT11,736 - 13,565 (+)NCBImRatBN7.2
mRatBN7.2 EnsemblMT11,736 - 13,565 (+)Ensembl
Rnor_6.0MT11,736 - 13,565 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblMT11,736 - 13,565 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0MT11,736 - 13,565 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4MT11,736 - 13,565 (+)NCBIRGSC3.4rn4RGSC3.4
Cytogenetic MapMT NCBI
MT-ND5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1MT11,778 - 13,598 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblMT11,778 - 13,598 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaMT11,778 - 13,598 (+)NCBI
MT-ND5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblMT12,935 - 14,755 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1MT12,935 - 14,755 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2MT12,935 - 14,755 (+)NCBISscrofa10.2Sscrofa10.2susScr3

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:150
Count of miRNA genes:149
Interacting mature miRNAs:150
Transcripts:ENST00000361567
Prediction methods:Miranda, Rnahybrid
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 2419 2396 1692 611 1365 453 4335 2187 3700 406 1392 1569 171 1200 2770 3
Medium 13 588 31 11 583 11 20 6 8 12 56 39 4 18 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: ENST00000361567   ⟹   ENSP00000354813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblMT12,337 - 14,148 (+)Ensembl
Protein Sequences
Protein RefSeqs YP_003024036 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58953 (Get FASTA)   NCBI Sequence Viewer  
  P03915 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: ENSP00000354813   ⟸   ENST00000361567
Protein Domains
NADH5_C   Proton_antipo_M   Proton_antipo_N


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
m.13730G>A single nucleotide variant Leber hereditary optic neuropathy [RCV000010337] ChrMT:13730 [GRCh38]
ChrMT:13730 [GRCh37]
pathogenic
m.12848C>T single nucleotide variant Leber hereditary optic neuropathy [RCV000010350] ChrMT:12848 [GRCh38]
ChrMT:12848 [GRCh37]
pathogenic
m.13708G>A single nucleotide variant Leber hereditary optic neuropathy [RCV000010336]|Leigh syndrome [RCV000854970] ChrMT:13708 [GRCh38]
ChrMT:13708 [GRCh37]
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
m.12706T>C single nucleotide variant Leigh syndrome [RCV000144015]|Leigh syndrome due to mitochondrial complex I deficiency [RCV000010338] ChrMT:12706 [GRCh38]
ChrMT:12706 [GRCh37]
pathogenic|likely pathogenic
m.12770A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010339] ChrMT:12770 [GRCh38]
ChrMT:12770 [GRCh37]
pathogenic
m.13045A>C single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010340]|Leber hereditary optic neuropathy [RCV000010341]|Leigh syndrome due to mitochondrial complex I deficiency [RCV000010342] ChrMT:13045 [GRCh38]
ChrMT:13045 [GRCh37]
pathogenic
m.13084A>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010344]|Leigh syndrome due to mitochondrial complex I deficiency [RCV000010343] ChrMT:13084 [GRCh38]
ChrMT:13084 [GRCh37]
pathogenic
m.13513G>A single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010345]|Leigh syndrome [RCV000144016]|Leigh syndrome due to mitochondrial complex I deficiency [RCV000010346]|Mitochondrial diseases [RCV000494941]|not provided [RCV000224472] ChrMT:13513 [GRCh38]
ChrMT:13513 [GRCh37]
pathogenic
m.13042G>A single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000010347]|Leber hereditary optic neuropathy [RCV000854885]|Leigh syndrome due to mitochondrial complex I deficiency [RCV000010349]|MERRF syndrome [RCV000010348] ChrMT:13042 [GRCh38]
ChrMT:13042 [GRCh37]
pathogenic
m.12338T>C single nucleotide variant Leber hereditary optic neuropathy [RCV000022893]|Leigh syndrome [RCV000854787] ChrMT:12338 [GRCh38]
ChrMT:12338 [GRCh37]
pathogenic|benign
m.12397A>G single nucleotide variant Leigh syndrome [RCV000854803]|Parkinson disease 6, autosomal recessive early-onset [RCV000010351] ChrMT:12397 [GRCh38]
ChrMT:12397 [GRCh37]
risk factor|benign
m.12811T>C single nucleotide variant Leber hereditary optic neuropathy [RCV000055698]|Leigh syndrome [RCV000854857]|not provided [RCV000507393] ChrMT:12811 [GRCh38]
ChrMT:12811 [GRCh37]
pathogenic|benign|uncertain significance
m.13637A>G single nucleotide variant Leber hereditary optic neuropathy [RCV000055699]|Leigh syndrome [RCV000854959] ChrMT:13637 [GRCh38]
ChrMT:13637 [GRCh37]
pathogenic|benign
NC_012920.1:m.13514A>G single nucleotide variant Leigh syndrome [RCV000144017] ChrMT:13514 [GRCh38]
ChrMT:13514 [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(MT-ND5):m.13528A>G single nucleotide variant Leigh syndrome [RCV000854944]|not provided [RCV000756359] ChrMT:13528 [GRCh38]
ChrMT:13528 [GRCh37]
benign|uncertain significance
NC_012920.1:m.13488T>C single nucleotide variant not provided [RCV000224093] ChrMT:13488 [GRCh38]
ChrMT:13488 [GRCh37]
likely benign
NC_012920.1:m.13485A>G single nucleotide variant not provided [RCV000224130] ChrMT:13485 [GRCh38]
ChrMT:13485 [GRCh37]
likely benign
NC_012920.1:m.14022A>G single nucleotide variant not provided [RCV000224161] ChrMT:14022 [GRCh38]
ChrMT:14022 [GRCh37]
likely benign
NC_012920.1:m.12903T>C single nucleotide variant not provided [RCV000224197] ChrMT:12903 [GRCh38]
ChrMT:12903 [GRCh37]
uncertain significance
NC_012920.1:m.12432C>T single nucleotide variant not provided [RCV000224379] ChrMT:12432 [GRCh38]
ChrMT:12432 [GRCh37]
uncertain significance
NC_012920.1:m.12810A>G single nucleotide variant not provided [RCV000224412] ChrMT:12810 [GRCh38]
ChrMT:12810 [GRCh37]
likely benign
NC_012920.1:m.13926T>C single nucleotide variant not provided [RCV000224562] ChrMT:13926 [GRCh38]
ChrMT:13926 [GRCh37]
uncertain significance
NC_012920.1:m.13635T>C single nucleotide variant not provided [RCV000224691] ChrMT:13635 [GRCh38]
ChrMT:13635 [GRCh37]
likely benign
NC_012920.1:m.14148A>G single nucleotide variant not provided [RCV000224762] ChrMT:14148 [GRCh38]
ChrMT:14148 [GRCh37]
likely benign
NC_012920.1:m.12681T>C single nucleotide variant not provided [RCV000224780] ChrMT:12681 [GRCh38]
ChrMT:12681 [GRCh37]
likely benign
NC_012920.1(MT-ND5):m.14000T>A single nucleotide variant Leigh syndrome [RCV000855026]|not provided [RCV000224850] ChrMT:14000 [GRCh38]
ChrMT:14000 [GRCh37]
benign|likely benign
NC_012920.1:m.12535C>T single nucleotide variant Leigh syndrome [RCV000854830]|not specified [RCV000223843] ChrMT:12535 [GRCh38]
ChrMT:12535 [GRCh37]
benign|uncertain significance
NC_012920.1:m.13713C>A single nucleotide variant Hearing impairment [RCV000408932] ChrMT:13713 [GRCh38]
ChrMT:13713 [GRCh37]
uncertain significance
NC_012920.1:m.12372G>A single nucleotide variant Mitochondrial diseases [RCV000625870] ChrMT:12372 [GRCh38]
ChrMT:12372 [GRCh37]
likely pathogenic
NC_012920.1:m.13722A>G single nucleotide variant not provided [RCV000429483] ChrMT:13722 [GRCh38]
ChrMT:13722 [GRCh37]
benign
NC_012920.1:m.14133A>G single nucleotide variant not provided [RCV000436982] ChrMT:14133 [GRCh38]
ChrMT:14133 [GRCh37]
benign
NC_012920.1(MT-ND5):m.12346C>T single nucleotide variant Leigh syndrome [RCV000854791]|not provided [RCV000515120] ChrMT:12346 [GRCh38]
ChrMT:12346 [GRCh37]
benign|likely benign
NC_012920.1:m.12889G>A single nucleotide variant not provided [RCV000508489] ChrMT:12889 [GRCh38]
ChrMT:12889 [GRCh37]
uncertain significance
NC_012920.1:m.8483_13459del4977 deletion Kearns Sayre syndrome [RCV000855712]|Mitochondrial diseases [RCV000495046] ChrMT:8470..13446 [GRCh38]
ChrMT:8470..13446 [GRCh37]
pathogenic
NC_012920.1:m.13051G>A single nucleotide variant Leber hereditary optic neuropathy [RCV000854887]|Mitochondrial diseases [RCV000495629] ChrMT:13051 [GRCh38]
ChrMT:13051 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1:m.8815_13722del4908 deletion Mitochondrial diseases [RCV000494750] ChrMT:8815..13722 [GRCh38]
ChrMT:8815..13722 [GRCh37]
pathogenic
NC_012920.1:m.11263_15374del4112 deletion Mitochondrial diseases [RCV000494855] ChrMT:11263..15374 [GRCh38]
ChrMT:11263..15374 [GRCh37]
pathogenic
NC_012920.1:m.8839_14895del6057 deletion Mitochondrial diseases [RCV000495147] ChrMT:8839..14895 [GRCh38]
ChrMT:8839..14895 [GRCh37]
pathogenic
NC_012920.1:m.12114_14420del2307 deletion Mitochondrial diseases [RCV000495253] ChrMT:12114..14420 [GRCh38]
ChrMT:12114..14420 [GRCh37]
pathogenic
NC_012920.1:m.6469_15587del9119 deletion Mitochondrial diseases [RCV000495334] ChrMT:6468..15586 [GRCh38]
ChrMT:6468..15586 [GRCh37]
pathogenic
NC_012920.1:m.8587_12967del4381 deletion Mitochondrial diseases [RCV000495437] ChrMT:8585..12965 [GRCh38]
ChrMT:8585..12965 [GRCh37]
pathogenic
NC_012920.1:m.8290_13040del4751 deletion Mitochondrial diseases [RCV000495493] ChrMT:8290..13040 [GRCh38]
ChrMT:8290..13040 [GRCh37]
pathogenic
NC_012920.1:m.10106_15067del4962 deletion Mitochondrial diseases [RCV000495541] ChrMT:10105..15066 [GRCh38]
ChrMT:10105..15066 [GRCh37]
pathogenic
NC_012920.1:m.7129_13991del6863 deletion Mitochondrial diseases [RCV000495692] ChrMT:7126..13988 [GRCh38]
ChrMT:7126..13988 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1:m.14040G>A single nucleotide variant not provided [RCV000514833] ChrMT:14040 [GRCh38]
ChrMT:14040 [GRCh37]
likely benign
NC_012920.1(MT-ND5):m.14002A>G single nucleotide variant Leigh syndrome [RCV000855027]|not provided [RCV000514858] ChrMT:14002 [GRCh38]
ChrMT:14002 [GRCh37]
benign|likely benign
NC_012920.1:m.12493A>G single nucleotide variant not provided [RCV000514853] ChrMT:12493 [GRCh38]
ChrMT:12493 [GRCh37]
uncertain significance
NC_012920.1:m.14076A>G single nucleotide variant not provided [RCV000514426] ChrMT:14076 [GRCh38]
ChrMT:14076 [GRCh37]
likely benign
NC_012920.1:m.13212C>T single nucleotide variant not provided [RCV000514036] ChrMT:13212 [GRCh38]
ChrMT:13212 [GRCh37]
likely benign
NC_012920.1:m.12349A>G single nucleotide variant Leigh syndrome [RCV000854792] ChrMT:12349 [GRCh38]
ChrMT:12349 [GRCh37]
uncertain significance
NC_012920.1:m.12361A>G single nucleotide variant Leigh syndrome [RCV000854795] ChrMT:12361 [GRCh38]
ChrMT:12361 [GRCh37]
benign
NC_012920.1:m.12367A>G single nucleotide variant Leigh syndrome [RCV000854797] ChrMT:12367 [GRCh38]
ChrMT:12367 [GRCh37]
likely benign
NC_012920.1:m.12382A>G single nucleotide variant Leigh syndrome [RCV000854799] ChrMT:12382 [GRCh38]
ChrMT:12382 [GRCh37]
uncertain significance
NC_012920.1:m.12383T>C single nucleotide variant Leigh syndrome [RCV000854800] ChrMT:12383 [GRCh38]
ChrMT:12383 [GRCh37]
uncertain significance
NC_012920.1:m.12401C>T single nucleotide variant Leigh syndrome [RCV000854805] ChrMT:12401 [GRCh38]
ChrMT:12401 [GRCh37]
likely benign
NC_012920.1:m.12403C>T single nucleotide variant Leigh syndrome [RCV000854806] ChrMT:12403 [GRCh38]
ChrMT:12403 [GRCh37]
benign
NC_012920.1:m.12424A>G single nucleotide variant Leigh syndrome [RCV000854809] ChrMT:12424 [GRCh38]
ChrMT:12424 [GRCh37]
likely benign
NC_012920.1:m.12425A>G single nucleotide variant Leigh syndrome [RCV000854810] ChrMT:12425 [GRCh38]
ChrMT:12425 [GRCh37]
benign
NC_012920.1:m.12425del deletion Mitochondrial myopathy, infantile, transient [RCV000854811] ChrMT:12418 [GRCh38]
ChrMT:12418 [GRCh37]
pathogenic
NC_012920.1:m.12448T>A single nucleotide variant Leigh syndrome [RCV000854815] ChrMT:12448 [GRCh38]
ChrMT:12448 [GRCh37]
uncertain significance
NC_012920.1:m.12454G>A single nucleotide variant Leigh syndrome [RCV000854818] ChrMT:12454 [GRCh38]
ChrMT:12454 [GRCh37]
benign
NC_012920.1:m.12458C>T single nucleotide variant Leigh syndrome [RCV000854820] ChrMT:12458 [GRCh38]
ChrMT:12458 [GRCh37]
uncertain significance
NC_012920.1:m.12479T>C single nucleotide variant Leigh syndrome [RCV000854821] ChrMT:12479 [GRCh38]
ChrMT:12479 [GRCh37]
uncertain significance
NC_012920.1:m.12542C>T single nucleotide variant Leigh syndrome [RCV000854831] ChrMT:12542 [GRCh38]
ChrMT:12542 [GRCh37]
benign
NC_012920.1:m.12560A>G single nucleotide variant Leigh syndrome [RCV000854836] ChrMT:12560 [GRCh38]
ChrMT:12560 [GRCh37]
uncertain significance
NC_012920.1:m.12599T>C single nucleotide variant Leigh syndrome [RCV000854839] ChrMT:12599 [GRCh38]
ChrMT:12599 [GRCh37]
benign
NC_012920.1(MT-ND5):m.12674A>G single nucleotide variant Leigh syndrome [RCV000854848] ChrMT:12674 [GRCh38]
ChrMT:12674 [GRCh37]
likely benign
NC_012920.1(MT-ND5):m.12713T>C single nucleotide variant Leigh syndrome [RCV000854849] ChrMT:12713 [GRCh38]
ChrMT:12713 [GRCh37]
uncertain significance
NC_012920.1(MT-ND5):m.12743A>G single nucleotide variant Leigh syndrome [RCV000854852] ChrMT:12743 [GRCh38]
ChrMT:12743 [GRCh37]
uncertain significance
NC_012920.1:m.12797T>C single nucleotide variant Leigh syndrome [RCV000854855] ChrMT:12797 [GRCh38]
ChrMT:12797 [GRCh37]
uncertain significance
NC_012920.1:m.12820G>A single nucleotide variant Leigh syndrome [RCV000854859] ChrMT:12820 [GRCh38]
ChrMT:12820 [GRCh37]
benign
NC_012920.1:m.12850A>G single nucleotide variant Leigh syndrome [RCV000854863] ChrMT:12850 [GRCh38]
ChrMT:12850 [GRCh37]
benign
NC_012920.1:m.12868G>A single nucleotide variant Leigh syndrome [RCV000854867] ChrMT:12868 [GRCh38]
ChrMT:12868 [GRCh37]
uncertain significance
NC_012920.1:m.12950A>G single nucleotide variant Leigh syndrome [RCV000854877] ChrMT:12950 [GRCh38]
ChrMT:12950 [GRCh37]
benign
NC_012920.1:m.12950A>C single nucleotide variant Leigh syndrome [RCV000854878] ChrMT:12950 [GRCh38]
ChrMT:12950 [GRCh37]
benign
NC_012920.1:m.12961A>G single nucleotide variant Leigh syndrome [RCV000854880] ChrMT:12961 [GRCh38]
ChrMT:12961 [GRCh37]
benign
NC_012920.1:m.12997G>A single nucleotide variant Leigh syndrome [RCV000854883] ChrMT:12997 [GRCh38]
ChrMT:12997 [GRCh37]
uncertain significance
NC_012920.1:m.13063G>A single nucleotide variant Leigh syndrome [RCV000854888] ChrMT:13063 [GRCh38]
ChrMT:13063 [GRCh37]
likely pathogenic
NC_012920.1:m.13105A>G single nucleotide variant Leigh syndrome [RCV000854894] ChrMT:13105 [GRCh38]
ChrMT:13105 [GRCh37]
benign
NC_012920.1:m.13129C>T single nucleotide variant Leigh syndrome [RCV000854898] ChrMT:13129 [GRCh38]
ChrMT:13129 [GRCh37]
benign
NC_012920.1:m.13147C>T single nucleotide variant Leigh syndrome [RCV000854901] ChrMT:13147 [GRCh38]
ChrMT:13147 [GRCh37]
uncertain significance
NC_012920.1:m.13159A>G single nucleotide variant Leigh syndrome [RCV000854905] ChrMT:13159 [GRCh38]
ChrMT:13159 [GRCh37]
uncertain significance
NC_012920.1:m.13162C>A single nucleotide variant Leigh syndrome [RCV000854906] ChrMT:13162 [GRCh38]
ChrMT:13162 [GRCh37]
uncertain significance
NC_012920.1:m.13225G>A single nucleotide variant Leigh syndrome [RCV000854912] ChrMT:13225 [GRCh38]
ChrMT:13225 [GRCh37]
likely benign
NC_012920.1:m.13240G>A single nucleotide variant Leigh syndrome [RCV000854913] ChrMT:13240 [GRCh38]
ChrMT:13240 [GRCh37]
uncertain significance
NC_012920.1:m.13276A>G single nucleotide variant Leigh syndrome [RCV000854915] ChrMT:13276 [GRCh38]
ChrMT:13276 [GRCh37]
benign
NC_012920.1:m.13336T>C single nucleotide variant Leigh syndrome [RCV000854921] ChrMT:13336 [GRCh38]
ChrMT:13336 [GRCh37]
uncertain significance
NC_012920.1:m.13376T>C single nucleotide variant Leigh syndrome [RCV000854924] ChrMT:13376 [GRCh38]
ChrMT:13376 [GRCh37]
uncertain significance
NC_012920.1:m.13388A>G single nucleotide variant Leigh syndrome [RCV000854925] ChrMT:13388 [GRCh38]
ChrMT:13388 [GRCh37]
uncertain significance
NC_012920.1:m.13438C>A single nucleotide variant Leigh syndrome [RCV000854930] ChrMT:13438 [GRCh38]
ChrMT:13438 [GRCh37]
uncertain significance
NC_012920.1:m.13466G>C single nucleotide variant Leigh syndrome [RCV000854933] ChrMT:13466 [GRCh38]
ChrMT:13466 [GRCh37]
benign
NC_012920.1:m.13478C>T single nucleotide variant Leigh syndrome [RCV000854937] ChrMT:13478 [GRCh38]
ChrMT:13478 [GRCh37]
uncertain significance
NC_012920.1:m.13543T>C single nucleotide variant Leigh syndrome [RCV000854946] ChrMT:13543 [GRCh38]
ChrMT:13543 [GRCh37]
likely benign
NC_012920.1:m.13552G>A single nucleotide variant Leigh syndrome [RCV000854947] ChrMT:13552 [GRCh38]
ChrMT:13552 [GRCh37]
uncertain significance
NC_012920.1:m.13568T>C single nucleotide variant Leigh syndrome [RCV000854949] ChrMT:13568 [GRCh38]
ChrMT:13568 [GRCh37]
uncertain significance
NC_012920.1:m.13606A>G single nucleotide variant Leigh syndrome [RCV000854954] ChrMT:13606 [GRCh38]
ChrMT:13606 [GRCh37]
likely benign
NC_012920.1:m.13612A>T single nucleotide variant Leigh syndrome [RCV000854955] ChrMT:13612 [GRCh38]
ChrMT:13612 [GRCh37]
uncertain significance
NC_012920.1:m.13616T>C single nucleotide variant Leigh syndrome [RCV000854957] ChrMT:13616 [GRCh38]
ChrMT:13616 [GRCh37]
uncertain significance
NC_012920.1:m.13651A>C single nucleotide variant Leigh syndrome [RCV000854962] ChrMT:13651 [GRCh38]
ChrMT:13651 [GRCh37]
uncertain significance
NC_012920.1:m.13651A>G single nucleotide variant Leigh syndrome [RCV000854963] ChrMT:13651 [GRCh38]
ChrMT:13651 [GRCh37]
benign
NC_012920.1:m.13661A>G single nucleotide variant Leigh syndrome [RCV000854965] ChrMT:13661 [GRCh38]
ChrMT:13661 [GRCh37]
likely benign
NC_012920.1:m.13676A>G single nucleotide variant Leigh syndrome [RCV000854967] ChrMT:13676 [GRCh38]
ChrMT:13676 [GRCh37]
likely benign
NC_012920.1:m.13754C>T single nucleotide variant Leigh syndrome [RCV000854977] ChrMT:13754 [GRCh38]
ChrMT:13754 [GRCh37]
benign
NC_012920.1:m.13760C>T single nucleotide variant Leigh syndrome [RCV000854979] ChrMT:13760 [GRCh38]
ChrMT:13760 [GRCh37]
uncertain significance
NC_012920.1:m.13768T>A single nucleotide variant Leigh syndrome [RCV000854983] ChrMT:13768 [GRCh38]
ChrMT:13768 [GRCh37]
likely benign
NC_012920.1:m.13810G>A single nucleotide variant Leigh syndrome [RCV000854992] ChrMT:13810 [GRCh38]
ChrMT:13810 [GRCh37]
benign
NC_012920.1:m.13862A>G single nucleotide variant Leigh syndrome [RCV000854999] ChrMT:13862 [GRCh38]
ChrMT:13862 [GRCh37]
benign
NC_012920.1:m.13874T>C single nucleotide variant Leigh syndrome [RCV000855000] ChrMT:13874 [GRCh38]
ChrMT:13874 [GRCh37]
benign
NC_012920.1:m.13879T>C single nucleotide variant Leigh syndrome [RCV000855001] ChrMT:13879 [GRCh38]
ChrMT:13879 [GRCh37]
benign
NC_012920.1:m.13880C>A single nucleotide variant Leigh syndrome [RCV000855003] ChrMT:13880 [GRCh38]
ChrMT:13880 [GRCh37]
benign
NC_012920.1:m.13885C>A single nucleotide variant Leigh syndrome [RCV000855004] ChrMT:13885 [GRCh38]
ChrMT:13885 [GRCh37]
uncertain significance
NC_012920.1:m.13907A>G single nucleotide variant Leigh syndrome [RCV000855008] ChrMT:13907 [GRCh38]
ChrMT:13907 [GRCh37]
likely benign
NC_012920.1:m.13913T>C single nucleotide variant Leigh syndrome [RCV000855009] ChrMT:13913 [GRCh38]
ChrMT:13913 [GRCh37]
uncertain significance
NC_012920.1:m.13924C>T single nucleotide variant Leigh syndrome [RCV000855012] ChrMT:13924 [GRCh38]
ChrMT:13924 [GRCh37]
benign
NC_012920.1:m.13928G>A single nucleotide variant Leigh syndrome [RCV000855014] ChrMT:13928 [GRCh38]
ChrMT:13928 [GRCh37]
benign
NC_012920.1:m.13934C>T single nucleotide variant Leigh syndrome [RCV000855016] ChrMT:13934 [GRCh38]
ChrMT:13934 [GRCh37]
benign
NC_012920.1:m.13946T>C single nucleotide variant Leigh syndrome [RCV000855018] ChrMT:13946 [GRCh38]
ChrMT:13946 [GRCh37]
uncertain significance
NC_012920.1:m.13948C>T single nucleotide variant Leigh syndrome [RCV000855019] ChrMT:13948 [GRCh38]
ChrMT:13948 [GRCh37]
benign
NC_012920.1:m.13958G>C single nucleotide variant Leigh syndrome [RCV000855020] ChrMT:13958 [GRCh38]
ChrMT:13958 [GRCh37]
benign
NC_012920.1:m.13966A>G single nucleotide variant Leigh syndrome [RCV000855021] ChrMT:13966 [GRCh38]
ChrMT:13966 [GRCh37]
benign
NC_012920.1:m.14029A>G single nucleotide variant Leigh syndrome [RCV000855030] ChrMT:14029 [GRCh38]
ChrMT:14029 [GRCh37]
likely benign
NC_012920.1:m.14035T>G single nucleotide variant Leigh syndrome [RCV000855031] ChrMT:14035 [GRCh38]
ChrMT:14035 [GRCh37]
likely benign
NC_012920.1:m.14059A>G single nucleotide variant Leigh syndrome [RCV000855040] ChrMT:14059 [GRCh38]
ChrMT:14059 [GRCh37]
benign
NC_012920.1:m.14060T>C single nucleotide variant Leigh syndrome [RCV000855041] ChrMT:14060 [GRCh38]
ChrMT:14060 [GRCh37]
likely benign
NC_012920.1:m.14063T>C single nucleotide variant Leigh syndrome [RCV000855043] ChrMT:14063 [GRCh38]
ChrMT:14063 [GRCh37]
benign
NC_012920.1:m.14091A>T single nucleotide variant Leigh syndrome [RCV000855045] ChrMT:14091 [GRCh38]
ChrMT:14091 [GRCh37]
uncertain significance
NC_012920.1:m.14112C>A single nucleotide variant Leigh syndrome [RCV000855047] ChrMT:14112 [GRCh38]
ChrMT:14112 [GRCh37]
uncertain significance
NC_012920.1:m.14129C>T single nucleotide variant Leigh syndrome [RCV000855051] ChrMT:14129 [GRCh38]
ChrMT:14129 [GRCh37]
benign
NC_012920.1:m.14142C>G single nucleotide variant Leigh syndrome [RCV000855055] ChrMT:14142 [GRCh38]
ChrMT:14142 [GRCh37]
benign
NC_012920.1:m.14144C>T single nucleotide variant Leigh syndrome [RCV000855057] ChrMT:14144 [GRCh38]
ChrMT:14144 [GRCh37]
uncertain significance
NC_012920.1:m.8350_13450del deletion Pearson syndrome [RCV000790615] ChrMT:8350..13450 [GRCh38]
ChrMT:8350..13450 [GRCh37]
pathogenic
NC_012920.1:m.8480_13440del deletion Pearson syndrome [RCV000790614] ChrMT:8480..13440 [GRCh38]
ChrMT:8480..13440 [GRCh37]
pathogenic
NC_012920.1:m.12341C>T single nucleotide variant Leigh syndrome [RCV000854789] ChrMT:12341 [GRCh38]
ChrMT:12341 [GRCh37]
likely benign
NC_012920.1:m.12358A>G single nucleotide variant Leigh syndrome [RCV000854794] ChrMT:12358 [GRCh38]
ChrMT:12358 [GRCh37]
benign
NC_012920.1:m.12373A>G single nucleotide variant Leigh syndrome [RCV000854798] ChrMT:12373 [GRCh38]
ChrMT:12373 [GRCh37]
benign
NC_012920.1:m.12436C>T single nucleotide variant Leigh syndrome [RCV000854813] ChrMT:12436 [GRCh38]
ChrMT:12436 [GRCh37]
likely benign
NC_012920.1:m.12501G>C single nucleotide variant Leigh syndrome [RCV000854825] ChrMT:12501 [GRCh38]
ChrMT:12501 [GRCh37]
uncertain significance
NC_012920.1:m.12509A>G single nucleotide variant Leigh syndrome [RCV000854826] ChrMT:12509 [GRCh38]
ChrMT:12509 [GRCh37]
uncertain significance
NC_012920.1:m.12561G>C single nucleotide variant Leigh syndrome [RCV000854837] ChrMT:12561 [GRCh38]
ChrMT:12561 [GRCh37]
uncertain significance
NC_012920.1:m.12613G>T single nucleotide variant Leigh syndrome [RCV000854841] ChrMT:12613 [GRCh38]
ChrMT:12613 [GRCh37]
uncertain significance
NC_012920.1:m.12634A>G single nucleotide variant Leigh syndrome [RCV000854844] ChrMT:12634 [GRCh38]
ChrMT:12634 [GRCh37]
benign
NC_012920.1(MT-ND5):m.12662A>G single nucleotide variant Leigh syndrome [RCV000854846] ChrMT:12662 [GRCh38]
ChrMT:12662 [GRCh37]
benign
NC_012920.1:m.12842T>C single nucleotide variant Leigh syndrome [RCV000854862] ChrMT:12842 [GRCh38]
ChrMT:12842 [GRCh37]
uncertain significance
NC_012920.1:m.12906C>A single nucleotide variant Leigh syndrome [RCV000854872] ChrMT:12906 [GRCh38]
ChrMT:12906 [GRCh37]
likely benign
NC_012920.1:m.12941C>T single nucleotide variant Leigh syndrome [RCV000854876] ChrMT:12941 [GRCh38]
ChrMT:12941 [GRCh37]
uncertain significance
NC_012920.1:m.12967A>G single nucleotide variant Leigh syndrome [RCV000854881] ChrMT:12967 [GRCh38]
ChrMT:12967 [GRCh37]
benign
NC_012920.1:m.13046T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000854886] ChrMT:13046 [GRCh38]
ChrMT:13046 [GRCh37]
likely pathogenic
NC_012920.1:m.13106T>C single nucleotide variant Leigh syndrome [RCV000854895] ChrMT:13106 [GRCh38]
ChrMT:13106 [GRCh37]
uncertain significance
NC_012920.1:m.13153A>G single nucleotide variant Leigh syndrome [RCV000854903] ChrMT:13153 [GRCh38]
ChrMT:13153 [GRCh37]
likely benign
NC_012920.1:m.13279G>A single nucleotide variant Leigh syndrome [RCV000854916] ChrMT:13279 [GRCh38]
ChrMT:13279 [GRCh37]
uncertain significance
NC_012920.1:m.13285A>G single nucleotide variant Leigh syndrome [RCV000854917] ChrMT:13285 [GRCh38]
ChrMT:13285 [GRCh37]
likely benign
NC_012920.1:m.13415G>A single nucleotide variant Leigh syndrome [RCV000854928] ChrMT:13415 [GRCh38]
ChrMT:13415 [GRCh37]
uncertain significance
NC_012920.1:m.13484T>C single nucleotide variant Leigh syndrome [RCV000854938] ChrMT:13484 [GRCh38]
ChrMT:13484 [GRCh37]
uncertain significance
NC_012920.1:m.13522A>G single nucleotide variant Leigh syndrome [RCV000854941] ChrMT:13522 [GRCh38]
ChrMT:13522 [GRCh37]
uncertain significance
NC_012920.1:m.13594A>G single nucleotide variant Leigh syndrome [RCV000854953] ChrMT:13594 [GRCh38]
ChrMT:13594 [GRCh37]
benign
NC_012920.1:m.13681A>G single nucleotide variant Leigh syndrome [RCV000854968] ChrMT:13681 [GRCh38]
ChrMT:13681 [GRCh37]
benign
NC_012920.1:m.13741A>G single nucleotide variant Leigh syndrome [RCV000854974] ChrMT:13741 [GRCh38]
ChrMT:13741 [GRCh37]
benign
NC_012920.1:m.13748A>G single nucleotide variant Leigh syndrome [RCV000854975] ChrMT:13748 [GRCh38]
ChrMT:13748 [GRCh37]
benign
NC_012920.1:m.13762T>G single nucleotide variant Leigh syndrome [RCV000854981] ChrMT:13762 [GRCh38]
ChrMT:13762 [GRCh37]
benign
NC_012920.1:m.13770C>A single nucleotide variant Leigh syndrome [RCV000854985] ChrMT:13770 [GRCh38]
ChrMT:13770 [GRCh37]
likely benign
NC_012920.1:m.13790A>G single nucleotide variant Leigh syndrome [RCV000854989] ChrMT:13790 [GRCh38]
ChrMT:13790 [GRCh37]
likely benign
NC_012920.1:m.13813G>A single nucleotide variant Leigh syndrome [RCV000854993] ChrMT:13813 [GRCh38]
ChrMT:13813 [GRCh37]
benign
NC_012920.1:m.13889G>A single nucleotide variant Leigh syndrome [RCV000855007] ChrMT:13889 [GRCh38]
ChrMT:13889 [GRCh37]
benign
NC_012920.1:m.13919T>A single nucleotide variant Leigh syndrome [RCV000855010] ChrMT:13919 [GRCh38]
ChrMT:13919 [GRCh37]
likely benign
NC_012920.1:m.13943C>T single nucleotide variant Leigh syndrome [RCV000855017] ChrMT:13943 [GRCh38]
ChrMT:13943 [GRCh37]
benign
NC_012920.1:m.13967C>T single nucleotide variant Leigh syndrome [RCV000855022] ChrMT:13967 [GRCh38]
ChrMT:13967 [GRCh37]
benign
NC_012920.1:m.14042A>T single nucleotide variant Leigh syndrome [RCV000855034] ChrMT:14042 [GRCh38]
ChrMT:14042 [GRCh37]
uncertain significance
NC_012920.1:m.14071A>G single nucleotide variant Leigh syndrome [RCV000855044] ChrMT:14071 [GRCh38]
ChrMT:14071 [GRCh37]
benign
NC_012920.1:m.14143A>G single nucleotide variant Leigh syndrome [RCV000855056] ChrMT:14143 [GRCh38]
ChrMT:14143 [GRCh37]
uncertain significance
NC_012920.1:m.12340A>G single nucleotide variant Leigh syndrome [RCV000854788] ChrMT:12340 [GRCh38]
ChrMT:12340 [GRCh37]
likely benign
NC_012920.1:m.12386C>T single nucleotide variant Leigh syndrome [RCV000854801] ChrMT:12386 [GRCh38]
ChrMT:12386 [GRCh37]
uncertain significance
NC_012920.1:m.12451A>G single nucleotide variant Leigh syndrome [RCV000854817] ChrMT:12451 [GRCh38]
ChrMT:12451 [GRCh37]
likely benign
NC_012920.1:m.12490A>G single nucleotide variant Leigh syndrome [RCV000854824] ChrMT:12490 [GRCh38]
ChrMT:12490 [GRCh37]
benign
NC_012920.1:m.12520A>G single nucleotide variant Leigh syndrome [RCV000854828] ChrMT:12520 [GRCh38]
ChrMT:12520 [GRCh37]
uncertain significance
NC_012920.1:m.12556A>G single nucleotide variant Leigh syndrome [RCV000854834] ChrMT:12556 [GRCh38]
ChrMT:12556 [GRCh37]
uncertain significance
NC_012920.1:m.12557C>T single nucleotide variant Leigh syndrome [RCV000854835] ChrMT:12557 [GRCh38]
ChrMT:12557 [GRCh37]
benign
NC_012920.1:m.12905T>C single nucleotide variant Leigh syndrome [RCV000854871] ChrMT:12905 [GRCh38]
ChrMT:12905 [GRCh37]
uncertain significance
NC_012920.1:m.12937A>G single nucleotide variant Leigh syndrome [RCV000854874] ChrMT:12937 [GRCh38]
ChrMT:12937 [GRCh37]
benign
NC_012920.1:m.12940G>A single nucleotide variant Leigh syndrome [RCV000854875] ChrMT:12940 [GRCh38]
ChrMT:12940 [GRCh37]
benign
NC_012920.1:m.12952G>A single nucleotide variant Leigh syndrome [RCV000854879] ChrMT:12952 [GRCh38]
ChrMT:12952 [GRCh37]
benign
NC_012920.1:m.13094T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000854891] ChrMT:13094 [GRCh38]
ChrMT:13094 [GRCh37]
pathogenic
NC_012920.1:m.13097T>C single nucleotide variant Leigh syndrome [RCV000854892] ChrMT:13097 [GRCh38]
ChrMT:13097 [GRCh37]
uncertain significance
NC_012920.1:m.13112T>C single nucleotide variant Leigh syndrome [RCV000854896] ChrMT:13112 [GRCh38]
ChrMT:13112 [GRCh37]
uncertain significance
NC_012920.1:m.13151T>C single nucleotide variant Leigh syndrome [RCV000854902] ChrMT:13151 [GRCh38]
ChrMT:13151 [GRCh37]
uncertain significance
NC_012920.1:m.13198G>A single nucleotide variant Leigh syndrome [RCV000854909] ChrMT:13198 [GRCh38]
ChrMT:13198 [GRCh37]
uncertain significance
NC_012920.1:m.13327A>G single nucleotide variant Leigh syndrome [RCV000854919] ChrMT:13327 [GRCh38]
ChrMT:13327 [GRCh37]
benign
NC_012920.1:m.13369T>C single nucleotide variant Leigh syndrome [RCV000854922] ChrMT:13369 [GRCh38]
ChrMT:13369 [GRCh37]
uncertain significance
NC_012920.1:m.13406G>A single nucleotide variant Leigh syndrome [RCV000854927] ChrMT:13406 [GRCh38]
ChrMT:13406 [GRCh37]
uncertain significance
NC_012920.1:m.13463G>A single nucleotide variant Leigh syndrome [RCV000854931] ChrMT:13463 [GRCh38]
ChrMT:13463 [GRCh37]
uncertain significance
NC_012920.1:m.13495A>G single nucleotide variant Leigh syndrome [RCV000854939] ChrMT:13495 [GRCh38]
ChrMT:13495 [GRCh37]
uncertain significance
NC_012920.1:m.13507T>C single nucleotide variant Leigh syndrome [RCV000854940] ChrMT:13507 [GRCh38]
ChrMT:13507 [GRCh37]
uncertain significance
NC_012920.1:m.13524C>A single nucleotide variant Leigh syndrome [RCV000854943] ChrMT:13524 [GRCh38]
ChrMT:13524 [GRCh37]
uncertain significance
NC_012920.1:m.13681A>T single nucleotide variant Leigh syndrome [RCV000854969] ChrMT:13681 [GRCh38]
ChrMT:13681 [GRCh37]
likely benign
NC_012920.1:m.13763C>T single nucleotide variant Leigh syndrome [RCV000854982] ChrMT:13763 [GRCh38]
ChrMT:13763 [GRCh37]
likely benign
NC_012920.1:m.13768T>C single nucleotide variant Leigh syndrome [RCV000854984] ChrMT:13768 [GRCh38]
ChrMT:13768 [GRCh37]
benign
NC_012920.1:m.13801A>G single nucleotide variant Leigh syndrome [RCV000854990] ChrMT:13801 [GRCh38]
ChrMT:13801 [GRCh37]
likely benign
NC_012920.1:m.13879T>A single nucleotide variant Leigh syndrome [RCV000855002] ChrMT:13879 [GRCh38]
ChrMT:13879 [GRCh37]
likely benign
NC_012920.1:m.13933A>G single nucleotide variant Leigh syndrome [RCV000855015] ChrMT:13933 [GRCh38]
ChrMT:13933 [GRCh37]
benign
NC_012920.1:m.13974A>T single nucleotide variant Leigh syndrome [RCV000855024] ChrMT:13974 [GRCh38]
ChrMT:13974 [GRCh37]
uncertain significance
NC_012920.1:m.14003C>T single nucleotide variant Leigh syndrome [RCV000855028] ChrMT:14003 [GRCh38]
ChrMT:14003 [GRCh37]
benign
NC_012920.1:m.14040G>C single nucleotide variant Leigh syndrome [RCV000855032] ChrMT:14040 [GRCh38]
ChrMT:14040 [GRCh37]
likely benign
NC_012920.1:m.14041C>T single nucleotide variant Leigh syndrome [RCV000855033] ChrMT:14041 [GRCh38]
ChrMT:14041 [GRCh37]
benign
NC_012920.1:m.14047A>G single nucleotide variant Leigh syndrome [RCV000855035] ChrMT:14047 [GRCh38]
ChrMT:14047 [GRCh37]
likely benign
NC_012920.1:m.14113T>C single nucleotide variant Leigh syndrome [RCV000855048] ChrMT:14113 [GRCh38]
ChrMT:14113 [GRCh37]
uncertain significance
NC_012920.1:m.12344T>C single nucleotide variant Leigh syndrome [RCV000854790] ChrMT:12344 [GRCh38]
ChrMT:12344 [GRCh37]
uncertain significance
NC_012920.1:m.12352A>G single nucleotide variant Leigh syndrome [RCV000854793] ChrMT:12352 [GRCh38]
ChrMT:12352 [GRCh37]
likely benign
NC_012920.1:m.12426C>A single nucleotide variant Leigh syndrome [RCV000854812] ChrMT:12426 [GRCh38]
ChrMT:12426 [GRCh37]
uncertain significance
NC_012920.1:m.12448T>C single nucleotide variant Leigh syndrome [RCV000854816] ChrMT:12448 [GRCh38]
ChrMT:12448 [GRCh37]
uncertain significance
NC_012920.1:m.12530A>G single nucleotide variant Leigh syndrome [RCV000854829] ChrMT:12530 [GRCh38]
ChrMT:12530 [GRCh37]
benign
NC_012920.1:m.12587A>G single nucleotide variant Leigh syndrome [RCV000854838] ChrMT:12587 [GRCh38]
ChrMT:12587 [GRCh37]
uncertain significance
NC_012920.1:m.12601T>C single nucleotide variant Leigh syndrome [RCV000854840] ChrMT:12601 [GRCh38]
ChrMT:12601 [GRCh37]
uncertain significance
NC_012920.1:m.12631T>C single nucleotide variant Leigh syndrome [RCV000854843] ChrMT:12631 [GRCh38]
ChrMT:12631 [GRCh37]
uncertain significance
NC_012920.1(MT-ND5):m.12673A>G single nucleotide variant Leigh syndrome [RCV000854847] ChrMT:12673 [GRCh38]
ChrMT:12673 [GRCh37]
uncertain significance
NC_012920.1(MT-ND5):m.12715A>G single nucleotide variant Leigh syndrome [RCV000854850] ChrMT:12715 [GRCh38]
ChrMT:12715 [GRCh37]
benign
NC_012920.1:m.12775G>A single nucleotide variant Leigh syndrome [RCV000854854] ChrMT:12775 [GRCh38]
ChrMT:12775 [GRCh37]
uncertain significance
NC_012920.1:m.12858C>A single nucleotide variant Mitochondrial myopathy, infantile, transient [RCV000854865] ChrMT:12858 [GRCh38]
ChrMT:12858 [GRCh37]
uncertain significance
NC_012920.1:m.12880T>C single nucleotide variant Leigh syndrome [RCV000854868] ChrMT:12880 [GRCh38]
ChrMT:12880 [GRCh37]
benign
NC_012920.1:m.12994G>A single nucleotide variant Leigh syndrome [RCV000854882] ChrMT:12994 [GRCh38]
ChrMT:12994 [GRCh37]
uncertain significance
NC_012920.1:m.13027C>A single nucleotide variant Leigh syndrome [RCV000854884] ChrMT:13027 [GRCh38]
ChrMT:13027 [GRCh37]
uncertain significance
NC_012920.1:m.13064T>C single nucleotide variant Leigh syndrome [RCV000854889] ChrMT:13064 [GRCh38]
ChrMT:13064 [GRCh37]
uncertain significance
NC_012920.1:m.13073T>A single nucleotide variant Leigh syndrome [RCV000854890] ChrMT:13073 [GRCh38]
ChrMT:13073 [GRCh37]
uncertain significance
NC_012920.1:m.13204G>C single nucleotide variant Leigh syndrome [RCV000854911] ChrMT:13204 [GRCh38]
ChrMT:13204 [GRCh37]
uncertain significance
NC_012920.1:m.13328C>A single nucleotide variant Leigh syndrome [RCV000854920] ChrMT:13328 [GRCh38]
ChrMT:13328 [GRCh37]
uncertain significance
NC_012920.1:m.13522A>C single nucleotide variant Leigh syndrome [RCV000854942] ChrMT:13522 [GRCh38]
ChrMT:13522 [GRCh37]
uncertain significance
NC_012920.1:m.13565C>T single nucleotide variant Leigh syndrome [RCV000854948] ChrMT:13565 [GRCh38]
ChrMT:13565 [GRCh37]
benign
NC_012920.1:m.13615A>G single nucleotide variant Leigh syndrome [RCV000854956] ChrMT:13615 [GRCh38]
ChrMT:13615 [GRCh37]
likely benign
NC_012920.1:m.13645T>A single nucleotide variant Leigh syndrome [RCV000854960] ChrMT:13645 [GRCh38]
ChrMT:13645 [GRCh37]
uncertain significance
NC_012920.1:m.13664T>C single nucleotide variant Leigh syndrome [RCV000854966] ChrMT:13664 [GRCh38]
ChrMT:13664 [GRCh37]
uncertain significance
NC_012920.1:m.13712C>T single nucleotide variant Leigh syndrome [RCV000854972] ChrMT:13712 [GRCh38]
ChrMT:13712 [GRCh37]
uncertain significance
NC_012920.1:m.13753T>C single nucleotide variant Leigh syndrome [RCV000854976] ChrMT:13753 [GRCh38]
ChrMT:13753 [GRCh37]
benign
NC_012920.1:m.13816A>G single nucleotide variant Leigh syndrome [RCV000854994] ChrMT:13816 [GRCh38]
ChrMT:13816 [GRCh37]
likely benign
NC_012920.1:m.13820T>C single nucleotide variant Leigh syndrome [RCV000854996] ChrMT:13820 [GRCh38]
ChrMT:13820 [GRCh37]
benign
NC_012920.1:m.13834A>G single nucleotide variant Leigh syndrome [RCV000854997] ChrMT:13834 [GRCh38]
ChrMT:13834 [GRCh37]
benign
NC_012920.1:m.13835C>T single nucleotide variant Leigh syndrome [RCV000854998] ChrMT:13835 [GRCh38]
ChrMT:13835 [GRCh37]
uncertain significance
NC_012920.1:m.13886T>C single nucleotide variant Leigh syndrome [RCV000855005] ChrMT:13886 [GRCh38]
ChrMT:13886 [GRCh37]
benign
NC_012920.1:m.13928G>C single nucleotide variant Leigh syndrome [RCV000855013] ChrMT:13928 [GRCh38]
ChrMT:13928 [GRCh37]
benign
NC_012920.1:m.13981C>T single nucleotide variant Leigh syndrome [RCV000855025] ChrMT:13981 [GRCh38]
ChrMT:13981 [GRCh37]
benign
NC_012920.1:m.14020T>G single nucleotide variant Leigh syndrome [RCV000855029] ChrMT:14020 [GRCh38]
ChrMT:14020 [GRCh37]
uncertain significance
NC_012920.1:m.14053A>C single nucleotide variant Leigh syndrome [RCV000855039] ChrMT:14053 [GRCh38]
ChrMT:14053 [GRCh37]
uncertain significance
NC_012920.1:m.14062A>G single nucleotide variant Leigh syndrome [RCV000855042] ChrMT:14062 [GRCh38]
ChrMT:14062 [GRCh37]
likely benign
NC_012920.1:m.14110T>C single nucleotide variant Leigh syndrome [RCV000855046] ChrMT:14110 [GRCh38]
ChrMT:14110 [GRCh37]
benign
NC_012920.1:m.14128A>G single nucleotide variant Leigh syndrome [RCV000855050] ChrMT:14128 [GRCh38]
ChrMT:14128 [GRCh37]
benign
NC_012920.1:m.14142C>A single nucleotide variant Leigh syndrome [RCV000855054] ChrMT:14142 [GRCh38]
ChrMT:14142 [GRCh37]
likely benign
NC_012920.1:m.12400A>G single nucleotide variant Leigh syndrome [RCV000854804] ChrMT:12400 [GRCh38]
ChrMT:12400 [GRCh37]
benign
NC_012920.1:m.12457G>A single nucleotide variant Leigh syndrome [RCV000854819] ChrMT:12457 [GRCh38]
ChrMT:12457 [GRCh37]
uncertain significance
NC_012920.1:m.12481T>A single nucleotide variant Leigh syndrome [RCV000854823] ChrMT:12481 [GRCh38]
ChrMT:12481 [GRCh37]
likely benign
NC_012920.1:m.12512A>T single nucleotide variant Leigh syndrome [RCV000854827] ChrMT:12512 [GRCh38]
ChrMT:12512 [GRCh37]
likely benign
NC_012920.1:m.12545C>T single nucleotide variant Leigh syndrome [RCV000854833] ChrMT:12545 [GRCh38]
ChrMT:12545 [GRCh37]
uncertain significance
NC_012920.1:m.12814G>A single nucleotide variant Leigh syndrome [RCV000854858] ChrMT:12814 [GRCh38]
ChrMT:12814 [GRCh37]
uncertain significance
NC_012920.1:m.12835G>A single nucleotide variant Leigh syndrome [RCV000854860] ChrMT:12835 [GRCh38]
ChrMT:12835 [GRCh37]
uncertain significance
NC_012920.1:m.12836C>T single nucleotide variant Leigh syndrome [RCV000854861] ChrMT:12836 [GRCh38]
ChrMT:12836 [GRCh37]
uncertain significance
NC_012920.1:m.12851T>C single nucleotide variant Leigh syndrome [RCV000854864] ChrMT:12851 [GRCh38]
ChrMT:12851 [GRCh37]
uncertain significance
NC_012920.1:m.12890C>T single nucleotide variant Leigh syndrome [RCV000854869] ChrMT:12890 [GRCh38]
ChrMT:12890 [GRCh37]
likely benign
NC_012920.1:m.12904A>G single nucleotide variant Leigh syndrome [RCV000854870] ChrMT:12904 [GRCh38]
ChrMT:12904 [GRCh37]
benign
NC_012920.1:m.13117A>G single nucleotide variant Leigh syndrome [RCV000854897] ChrMT:13117 [GRCh38]
ChrMT:13117 [GRCh37]
benign
NC_012920.1:m.13145G>A single nucleotide variant Leigh syndrome [RCV000854900] ChrMT:13145 [GRCh38]
ChrMT:13145 [GRCh37]
benign
NC_012920.1:m.13246T>C single nucleotide variant Leigh syndrome [RCV000854914] ChrMT:13246 [GRCh38]
ChrMT:13246 [GRCh37]
uncertain significance
NC_012920.1:m.13288G>A single nucleotide variant Leigh syndrome [RCV000854918] ChrMT:13288 [GRCh38]
ChrMT:13288 [GRCh37]
uncertain significance
NC_012920.1:m.13375A>G single nucleotide variant Leigh syndrome [RCV000854923] ChrMT:13375 [GRCh38]
ChrMT:13375 [GRCh37]
uncertain significance
NC_012920.1:m.13391A>G single nucleotide variant Leigh syndrome [RCV000854926] ChrMT:13391 [GRCh38]
ChrMT:13391 [GRCh37]
uncertain significance
NC_012920.1:m.13468C>A single nucleotide variant Leigh syndrome [RCV000854934] ChrMT:13468 [GRCh38]
ChrMT:13468 [GRCh37]
uncertain significance
NC_012920.1:m.13471G>A single nucleotide variant Leigh syndrome [RCV000854935] ChrMT:13471 [GRCh38]
ChrMT:13471 [GRCh37]
uncertain significance
NC_012920.1:m.13477G>A single nucleotide variant Leigh syndrome [RCV000854936] ChrMT:13477 [GRCh38]
ChrMT:13477 [GRCh37]
benign
NC_012920.1:m.13576A>G single nucleotide variant Leigh syndrome [RCV000854950] ChrMT:13576 [GRCh38]
ChrMT:13576 [GRCh37]
likely benign
NC_012920.1:m.13649C>T single nucleotide variant Leigh syndrome [RCV000854961] ChrMT:13649 [GRCh38]
ChrMT:13649 [GRCh37]
likely benign
NC_012920.1:m.13759G>A single nucleotide variant Leigh syndrome [RCV000854978] ChrMT:13759 [GRCh38]
ChrMT:13759 [GRCh37]
benign
NC_012920.1:m.13762T>A single nucleotide variant Leigh syndrome [RCV000854980] ChrMT:13762 [GRCh38]
ChrMT:13762 [GRCh37]
likely benign
NC_012920.1:m.13780A>G single nucleotide variant Leigh syndrome [RCV000854986] ChrMT:13780 [GRCh38]
ChrMT:13780 [GRCh37]
benign
NC_012920.1:m.13781T>C single nucleotide variant Leigh syndrome [RCV000854987] ChrMT:13781 [GRCh38]
ChrMT:13781 [GRCh37]
benign
NC_012920.1:m.13802C>T single nucleotide variant Leigh syndrome [RCV000854991] ChrMT:13802 [GRCh38]
ChrMT:13802 [GRCh37]
benign
NC_012920.1:m.13819T>C single nucleotide variant Leigh syndrome [RCV000854995] ChrMT:13819 [GRCh38]
ChrMT:13819 [GRCh37]
benign
NC_012920.1:m.14053A>G single nucleotide variant Leigh syndrome [RCV000855038] ChrMT:14053 [GRCh38]
ChrMT:14053 [GRCh37]
benign
NC_012920.1:m.12362C>T single nucleotide variant Leigh syndrome [RCV000854796] ChrMT:12362 [GRCh38]
ChrMT:12362 [GRCh37]
benign
NC_012920.1:m.12389C>T single nucleotide variant Leigh syndrome [RCV000854802] ChrMT:12389 [GRCh38]
ChrMT:12389 [GRCh37]
uncertain significance
NC_012920.1:m.12406G>A single nucleotide variant Leigh syndrome [RCV000854807] ChrMT:12406 [GRCh38]
ChrMT:12406 [GRCh37]
benign
NC_012920.1:m.12410A>G single nucleotide variant Leigh syndrome [RCV000854808] ChrMT:12410 [GRCh38]
ChrMT:12410 [GRCh37]
uncertain significance
NC_012920.1:m.12437A>G single nucleotide variant Leigh syndrome [RCV000854814] ChrMT:12437 [GRCh38]
ChrMT:12437 [GRCh37]
likely benign
NC_012920.1:m.12481T>C single nucleotide variant Leigh syndrome [RCV000854822] ChrMT:12481 [GRCh38]
ChrMT:12481 [GRCh37]
uncertain significance
NC_012920.1:m.12544A>G single nucleotide variant Leigh syndrome [RCV000854832] ChrMT:12544 [GRCh38]
ChrMT:12544 [GRCh37]
uncertain significance
NC_012920.1:m.12622G>A single nucleotide variant Leigh syndrome [RCV000854842] ChrMT:12622 [GRCh38]
ChrMT:12622 [GRCh37]
likely benign
NC_012920.1(MT-ND5):m.12661A>T single nucleotide variant Leigh syndrome [RCV000854845] ChrMT:12661 [GRCh38]
ChrMT:12661 [GRCh37]
likely benign
NC_012920.1(MT-ND5):m.12730G>A single nucleotide variant Leigh syndrome [RCV000854851] ChrMT:12730 [GRCh38]
ChrMT:12730 [GRCh37]
likely benign
NC_012920.1:m.12757T>C single nucleotide variant Leigh syndrome [RCV000854853] ChrMT:12757 [GRCh38]
ChrMT:12757 [GRCh37]
benign
NC_012920.1:m.12799A>G single nucleotide variant Leigh syndrome [RCV000854856] ChrMT:12799 [GRCh38]
ChrMT:12799 [GRCh37]
uncertain significance
NC_012920.1:m.12865A>G single nucleotide variant Leigh syndrome [RCV000854866] ChrMT:12865 [GRCh38]
ChrMT:12865 [GRCh37]
uncertain significance
NC_012920.1:m.12923G>T single nucleotide variant Leigh syndrome [RCV000854873] ChrMT:12923 [GRCh38]
ChrMT:12923 [GRCh37]
benign
NC_012920.1:m.13099G>A single nucleotide variant Leigh syndrome [RCV000854893] ChrMT:13099 [GRCh38]
ChrMT:13099 [GRCh37]
uncertain significance
NC_012920.1:m.13135G>A single nucleotide variant Leigh syndrome [RCV000854899] ChrMT:13135 [GRCh38]
ChrMT:13135 [GRCh37]
benign
NC_012920.1:m.13154T>C single nucleotide variant Leigh syndrome [RCV000854904] ChrMT:13154 [GRCh38]
ChrMT:13154 [GRCh37]
uncertain significance
NC_012920.1:m.13183A>G single nucleotide variant Leigh syndrome [RCV000854907] ChrMT:13183 [GRCh38]
ChrMT:13183 [GRCh37]
benign
NC_012920.1:m.13184T>C single nucleotide variant Leigh syndrome [RCV000854908] ChrMT:13184 [GRCh38]
ChrMT:13184 [GRCh37]
benign
NC_012920.1:m.13204G>A single nucleotide variant Leigh syndrome [RCV000854910] ChrMT:13204 [GRCh38]
ChrMT:13204 [GRCh37]
benign
NC_012920.1:m.13436C>A single nucleotide variant Leigh syndrome [RCV000854929] ChrMT:13436 [GRCh38]
ChrMT:13436 [GRCh37]
uncertain significance
NC_012920.1:m.13466G>A single nucleotide variant Leigh syndrome [RCV000854932] ChrMT:13466 [GRCh38]
ChrMT:13466 [GRCh37]
likely benign
NC_012920.1:m.13535A>G single nucleotide variant Leigh syndrome [RCV000854945] ChrMT:13535 [GRCh38]
ChrMT:13535 [GRCh37]
benign
NC_012920.1:m.13579G>A single nucleotide variant Leigh syndrome [RCV000854951] ChrMT:13579 [GRCh38]
ChrMT:13579 [GRCh37]
likely benign
NC_012920.1:m.13583C>T single nucleotide variant Leigh syndrome [RCV000854952] ChrMT:13583 [GRCh38]
ChrMT:13583 [GRCh37]
uncertain significance
NC_012920.1:m.13630A>G single nucleotide variant Leigh syndrome [RCV000854958] ChrMT:13630 [GRCh38]
ChrMT:13630 [GRCh37]
benign
NC_012920.1:m.13651A>T single nucleotide variant Leigh syndrome [RCV000854964] ChrMT:13651 [GRCh38]
ChrMT:13651 [GRCh37]
uncertain significance
NC_012920.1:m.13711G>A single nucleotide variant Leigh syndrome [RCV000854971] ChrMT:13711 [GRCh38]
ChrMT:13711 [GRCh37]
benign
NC_012920.1:m.13726G>A single nucleotide variant Leigh syndrome [RCV000854973] ChrMT:13726 [GRCh38]
ChrMT:13726 [GRCh37]
uncertain significance
NC_012920.1:m.13789T>C single nucleotide variant Leigh syndrome [RCV000854988] ChrMT:13789 [GRCh38]
ChrMT:13789 [GRCh37]
benign
NC_012920.1:m.13888T>C single nucleotide variant Leigh syndrome [RCV000855006] ChrMT:13888 [GRCh38]
ChrMT:13888 [GRCh37]
likely benign
NC_012920.1:m.13919T>C single nucleotide variant Leigh syndrome [RCV000855011] ChrMT:13919 [GRCh38]
ChrMT:13919 [GRCh37]
uncertain significance
NC_012920.1:m.13973A>T single nucleotide variant Leigh syndrome [RCV000855023] ChrMT:13973 [GRCh38]
ChrMT:13973 [GRCh37]
benign
NC_012920.1:m.14050T>C single nucleotide variant Leigh syndrome [RCV000855036] ChrMT:14050 [GRCh38]
ChrMT:14050 [GRCh37]
uncertain significance
NC_012920.1:m.14051C>T single nucleotide variant Leigh syndrome [RCV000855037] ChrMT:14051 [GRCh38]
ChrMT:14051 [GRCh37]
uncertain significance
NC_012920.1:m.14122A>G single nucleotide variant Leigh syndrome [RCV000855049] ChrMT:14122 [GRCh38]
ChrMT:14122 [GRCh37]
benign
NC_012920.1:m.14138T>C single nucleotide variant Leigh syndrome [RCV000855052] ChrMT:14138 [GRCh38]
ChrMT:14138 [GRCh37]
uncertain significance
NC_012920.1:m.14140A>G single nucleotide variant Leigh syndrome [RCV000855053] ChrMT:14140 [GRCh38]
ChrMT:14140 [GRCh37]
uncertain significance
NC_012920.1:m.12499A>G single nucleotide variant not provided [RCV001175277] ChrMT:12499 [GRCh38]
ChrMT:12499 [GRCh37]
not provided
NC_012920.1:m.13547C>T single nucleotide variant not provided [RCV001175284] ChrMT:13547 [GRCh38]
ChrMT:13547 [GRCh37]
not provided

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7461 AgrOrtholog
COSMIC MT-ND5 COSMIC
Ensembl Genes ENSG00000198786 Ensembl, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000354813 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361567 UniProtKB/Swiss-Prot
GTEx ENSG00000198786 GTEx
HGNC ID HGNC:7461 ENTREZGENE
Human Proteome Map MT-ND5 Human Proteome Map
InterPro NADH_DH_su5_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NADHpl_OxRdtase_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ND/Mrp_mem UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proton_antipo_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4540 ENTREZGENE
OMIM 516005 OMIM
Pfam NADH5_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proton_antipo_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proton_antipo_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31265 PharmGKB
TIGRFAMs NDH_I_L UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt NU5M_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  U5ZC31 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q34773 UniProtKB/Swiss-Prot
  Q8WCY3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-02-26 MT-ND5  mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5  MT-ND5  mitochondrially encoded NADH dehydrogenase 5  Symbol and/or name change 19259463 PROVISIONAL
2015-05-19 MT-ND5  mitochondrially encoded NADH dehydrogenase 5  ND5    Symbol and/or name change 5135510 APPROVED
2014-10-07 ND5  mitochondrially encoded NADH dehydrogenase 5  MT-ND5    Symbol and/or name change 5135510 APPROVED