MT-ATP6 (mitochondrially encoded ATP synthase membrane subunit 6) - Rat Genome Database
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Gene: MT-ATP6 (mitochondrially encoded ATP synthase membrane subunit 6) Homo sapiens
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Symbol: MT-ATP6
Name: mitochondrially encoded ATP synthase membrane subunit 6
RGD ID: 1350040
HGNC Page HGNC
Description: Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in mitochondrial ATP synthesis coupled proton transport. Localizes to mitochondrial proton-transporting ATP synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus; PARTICIPATES IN electron transport chain pathway; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one.
Type: protein-coding
RefSeq Status: PROVISIONAL
Also known as: ATP synthase F0 subunit 6; ATPase6; mitochondrially encoded ATP synthase 6; MTATP6
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 EnsemblMT8,527 - 9,207 (+)EnsemblGRCh38hg38GRCh38
GRCh38MT8,527 - 9,207 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37MT8,527 - 9,207 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT8,528 - 9,208 (+)NCBINCBI36hg18NCBI36


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

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

Human Phenotype
Abnormal basal ganglia MRI signal intensity  (IAGP)
Abnormal caudate nucleus morphology  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal renal tubule morphology  (IAGP)
Abnormal speech prosody  (IAGP)
Abnormal visual field test  (IAGP)
Abnormality of Krebs cycle metabolism  (IAGP)
Apnea  (IAGP)
Arrhythmia  (IAGP)
Astrocytosis  (IAGP)
Ataxia  (IAGP)
Atrophy/Degeneration involving the caudate nucleus  (IAGP)
Babinski sign  (IAGP)
Basal ganglia cysts  (IAGP)
Basal ganglia gliosis  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Blurred vision  (IAGP)
Bulbar signs  (IAGP)
Cardiac conduction abnormality  (IAGP)
Cardiomyopathy  (IAGP)
Central retinal vessel vascular tortuosity  (IAGP)
Central scotoma  (IAGP)
Centrocecal scotoma  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Cogwheel rigidity  (IAGP)
Constriction of peripheral visual field  (IAGP)
Corticospinal tract atrophy  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Demyelinating peripheral neuropathy  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Difficulty walking  (IAGP)
Dilated cardiomyopathy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Episodic respiratory distress  (IAGP)
Episodic vomiting  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized myoclonic seizure  (IAGP)
Global developmental delay  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Heterogeneous  (IAGP)
Horizontal pendular nystagmus  (IAGP)
Hyperalaninemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyperventilation  (IAGP)
Hyporeflexia  (IAGP)
Hypothermia  (IAGP)
Impaired vibration sensation in the lower limbs  (IAGP)
Incomplete penetrance  (IAGP)
Increased CSF lactate  (IAGP)
Increased serum lactate  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, severe  (IAGP)
Irritability  (IAGP)
Lacticaciduria  (IAGP)
Leber optic atrophy  (IAGP)
Leg muscle stiffness  (IAGP)
Loss of ability to walk  (IAGP)
Low plasma citrulline  (IAGP)
Lower limb muscle weakness  (IAGP)
Lower limb pain  (IAGP)
Mitochondrial inheritance  (IAGP)
Mitochondrial myopathy  (IAGP)
Mitochondrial respiratory chain defects  (IAGP)
Multiple glomerular cysts  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Myoclonic spasms  (IAGP)
Myoclonus  (IAGP)
Myopathy  (IAGP)
Nystagmus  (IAGP)
Ophthalmoparesis  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Optic neuropathy  (IAGP)
Parkinsonism  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Peripheral neuropathy  (IAGP)
Pigmentary retinopathy  (IAGP)
Polyneuropathy  (IAGP)
Postural tremor  (IAGP)
Progressive gait ataxia  (IAGP)
Progressive spastic paraplegia  (IAGP)
Proximal muscle weakness  (IAGP)
Ragged-red muscle fibers  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Retinal pigment epithelial mottling  (IAGP)
Retinal telangiectasia  (IAGP)
Retinal vascular tortuosity  (IAGP)
Retinopathy  (IAGP)
Rod-cone dystrophy  (IAGP)
Segmental peripheral demyelination/remyelination  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory neuropathy  (IAGP)
Severe global developmental delay  (IAGP)
Short stature  (IAGP)
Slow decrease in visual acuity  (IAGP)
Small basal ganglia  (IAGP)
Spastic tetraparesis  (IAGP)
Spasticity  (IAGP)
Supraventricular arrhythmia  (IAGP)
Systemic lupus erythematosus  (IAGP)
Tetraparesis  (IAGP)
Undetectable light- and dark-adapted electroretinogram  (IAGP)
Upper limb muscle weakness  (IAGP)
Ventricular preexcitation  (IAGP)
Ventriculomegaly  (IAGP)
Visual loss  (IAGP)
References

Additional References at PubMed
PMID:11925565   PMID:12110673   PMID:12133827   PMID:12915481   PMID:14499622   PMID:14697245   PMID:14748908   PMID:15228605   PMID:15931342   PMID:15965056   PMID:16060290   PMID:16217706  
PMID:16604388   PMID:16611712   PMID:16751614   PMID:17121862   PMID:17300808   PMID:17342424   PMID:18055910   PMID:18409190   PMID:18481423   PMID:19050702   PMID:19066432   PMID:19077432  
PMID:19160410   PMID:19269308   PMID:19758471   PMID:20056103   PMID:20082143   PMID:20301352   PMID:20301353   PMID:20301403   PMID:20361200   PMID:20546952   PMID:20656066   PMID:21873635  
PMID:21993659   PMID:22157746   PMID:22238370   PMID:22348497   PMID:22542792   PMID:22577227   PMID:22810586   PMID:22819295   PMID:22933740   PMID:22971232   PMID:23206802   PMID:23840124  
PMID:24102627   PMID:24153443   PMID:24986921   PMID:25009317   PMID:25110199   PMID:25541891   PMID:25556488   PMID:25588698   PMID:25896597   PMID:25959826   PMID:26252090   PMID:26993169  
PMID:27129022   PMID:27187822   PMID:27812026   PMID:28104394   PMID:28412374   PMID:28597972   PMID:28986220   PMID:29116603   PMID:29307858   PMID:29350304   PMID:29414393   PMID:29481804  
PMID:29507755   PMID:29509190   PMID:30006447   PMID:30227252   PMID:30318146   PMID:30463901   PMID:31046837   PMID:31073040   PMID:31586073   PMID:32337946  


Genomics

Comparative Map Data
MT-ATP6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblMT8,527 - 9,207 (+)EnsemblGRCh38hg38GRCh38
GRCh38MT8,527 - 9,207 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37MT8,527 - 9,207 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36MT8,528 - 9,208 (+)NCBINCBI36hg18NCBI36
mt-Atp6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39MT7,927 - 8,607 (+)NCBIGRCm39mm39
GRCm38MT7,927 - 8,607 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblMT7,927 - 8,607 (+)EnsemblGRCm38mm10GRCm38
MGSCv37MT7,927 - 8,607 (+)NCBIGRCm37mm9NCBIm37
Mt-atp6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0MT7,919 - 8,599 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblMT7,919 - 8,599 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0MT7,919 - 8,599 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4MT7,919 - 8,599 (+)NCBIRGSC3.4rn4RGSC3.4
Cytogenetic MapMT NCBI
MT-ATP6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 EnsemblMT7,964 - 8,644 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1MT7,964 - 8,644 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
ATP6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblMT9,120 - 9,800 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1MT9,120 - 9,800 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2MT9,120 - 9,800 (+)NCBISscrofa10.2Sscrofa10.2susScr3

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:266
Count of miRNA genes:243
Interacting mature miRNAs:256
Transcripts:ENST00000361899
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 2431 2960 1719 622 1911 464 4354 2189 3707 416 1443 1608 171 1204 2787 3
Medium 1 24 4 37 1 4 1 2 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: ENST00000361899   ⟹   ENSP00000354632
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblMT8,527 - 9,207 (+)Ensembl
Protein Sequences
Protein RefSeqs YP_003024031 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58948 (Get FASTA)   NCBI Sequence Viewer  
  P00846 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: ENSP00000354632   ⟸   ENST00000361899


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
m.9101T>C single nucleotide variant Leber's optic atrophy [RCV000010277]|Leigh syndrome [RCV000854439] ChrMT:9101 [GRCh38]
ChrMT:9101 [GRCh37]
pathogenic|benign
m.8528T>C single nucleotide variant Cardiomyopathy, infantile hypertrophic [RCV000010272]|Histiocytoid cardiomyopathy [RCV000854219] ChrMT:8528 [GRCh38]
ChrMT:8528 [GRCh37]
pathogenic
NC_012920.1:m.8993T>G single nucleotide variant Cerebellar ataxia [RCV000191106]|Hypertelorism [RCV000414771]|Leigh syndrome [RCV000010273]|Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 [RCV000754646]|Mitochondrial diseases [RCV000495419]|NARP syndrome [RCV000010274]|not provided [RCV000224643] ChrMT:8993 [GRCh38]
ChrMT:8993 [GRCh37]
pathogenic
NC_012920.1:m.8993T>C single nucleotide variant Ataxia and polyneuropathy, adult-onset [RCV000010276]|Leigh syndrome [RCV000010275]|Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 [RCV000754647]|Mitochondrial diseases [RCV000495030]|NARP syndrome [RCV000854390]|not provided [RCV001268873] ChrMT:8993 [GRCh38]
ChrMT:8993 [GRCh37]
pathogenic
NC_012920.1:m.9176T>C single nucleotide variant Leigh syndrome [RCV000010279]|Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 [RCV000754652]|Striatonigral degeneration, infantile, mitochondrial [RCV000010278]|not provided [RCV001027501] ChrMT:9176 [GRCh38]
ChrMT:9176 [GRCh37]
pathogenic|uncertain significance
NC_012920.1:m.8851T>C single nucleotide variant Leigh syndrome [RCV000144005]|Striatonigral degeneration, infantile, mitochondrial [RCV000010280]|not provided [RCV001268336] ChrMT:8851 [GRCh38]
ChrMT:8851 [GRCh37]
pathogenic|likely pathogenic
m.9205_9206delTA deletion Seizures and lactic acidosis [RCV000010281] ChrMT:9204..9205 [GRCh38]
ChrMT:9204..9205 [GRCh37]
pathogenic
NC_012920.1:m.9185T>C single nucleotide variant Charcot-Marie-Tooth disease [RCV000240612]|Leigh syndrome [RCV000010282]|Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 [RCV000754648]|Mitochondrial diseases [RCV000495689]|Neurodevelopmental disorder [RCV001197224]|not provided [RCV001267926] ChrMT:9185 [GRCh38]
ChrMT:9185 [GRCh37]
pathogenic|uncertain significance
m.8618dupT duplication NARP syndrome [RCV000010283] ChrMT:8617..8618 [GRCh38]
ChrMT:8617..8618 [GRCh37]
pathogenic
NC_012920.1:m.9176T>G single nucleotide variant Leigh syndrome [RCV000010285]|Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1 [RCV000754649] ChrMT:9176 [GRCh38]
ChrMT:9176 [GRCh37]
pathogenic
m.8529G>A single nucleotide variant Cardiomyopathy, apical hypertrophic, and neuropathy [RCV000010271] ChrMT:8529 [GRCh38]
ChrMT:8529 [GRCh37]
pathogenic
NC_012920.1:m.8969G>A single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000854381]|Myopathy, lactic acidosis, and sideroblastic anemia 3 [RCV000171545] ChrMT:8969 [GRCh38]
ChrMT:8969 [GRCh37]
pathogenic
NC_012920.1:m.9191T>C single nucleotide variant Leigh syndrome [RCV000144006] ChrMT:9191 [GRCh38]
ChrMT:9191 [GRCh37]
pathogenic
NC_012920.1:m.8839G>C single nucleotide variant Leigh syndrome [RCV000144024]|Mitochondrial diseases [RCV000495688] ChrMT:8839 [GRCh38]
ChrMT:8839 [GRCh37]
pathogenic
NC_012920.1:m.8989G>C single nucleotide variant Leigh syndrome [RCV000144025] ChrMT:8989 [GRCh38]
ChrMT:8989 [GRCh37]
pathogenic
NC_012920.1:m.5782_13922del8141 deletion Primary dilated cardiomyopathy [RCV000191151] ChrMT:5782..13922 [GRCh38]
ChrMT:5782..13922 [GRCh37]
likely pathogenic
NC_012920.1:m.5794_14876del9083 deletion Primary dilated cardiomyopathy [RCV000191152] ChrMT:5794..14876 [GRCh38]
ChrMT:5794..14876 [GRCh37]
likely pathogenic
NC_012920.1:m.8865G>A single nucleotide variant not provided [RCV000224066] ChrMT:8865 [GRCh38]
ChrMT:8865 [GRCh37]
benign
NC_012920.1:m.9152T>C single nucleotide variant Leigh syndrome [RCV000854460]|Mitochondrial-DNA disorder [RCV000709942]|not provided [RCV000224169] ChrMT:9152 [GRCh38]
ChrMT:9152 [GRCh37]
likely benign|uncertain significance|not provided
NC_012920.1:m.8856G>A single nucleotide variant not provided [RCV000224222] ChrMT:8856 [GRCh38]
ChrMT:8856 [GRCh37]
likely benign
NC_012920.1(MT-ATP6):m.8932C>T single nucleotide variant Leigh syndrome [RCV000854366]|not provided [RCV000224223] ChrMT:8932 [GRCh38]
ChrMT:8932 [GRCh37]
benign|likely benign
NC_012920.1:m.8619C>T single nucleotide variant not provided [RCV000224303] ChrMT:8619 [GRCh38]
ChrMT:8619 [GRCh37]
likely benign
NC_012920.1:m.8818C>T single nucleotide variant not provided [RCV000224389] ChrMT:8818 [GRCh38]
ChrMT:8818 [GRCh37]
likely benign
NC_012920.1(MT-ATP6):m.8616G>T single nucleotide variant Leigh syndrome [RCV000854261]|not provided [RCV000224510] ChrMT:8616 [GRCh38]
ChrMT:8616 [GRCh37]
benign|likely benign
NC_012920.1:m.8527A>G single nucleotide variant Leigh syndrome [RCV000854218]|not provided [RCV000224525] ChrMT:8527 [GRCh38]
ChrMT:8527 [GRCh37]
benign|likely benign
NC_012920.1:m.9072A>G single nucleotide variant not provided [RCV000224868] ChrMT:9072 [GRCh38]
ChrMT:9072 [GRCh37]
likely benign
NC_012920.1(MT-ATP6):m.8803A>T single nucleotide variant Leigh syndrome [RCV000854329]|not provided [RCV000224874] ChrMT:8803 [GRCh38]
ChrMT:8803 [GRCh37]
benign|uncertain significance
NC_012920.1(MT-ATP6):m.8704A>G single nucleotide variant Leigh syndrome [RCV000854295]|not provided [RCV000224912] ChrMT:8704 [GRCh38]
ChrMT:8704 [GRCh37]
likely benign|uncertain significance
NC_012920.1:m.8790G>A single nucleotide variant not provided [RCV000224913] ChrMT:8790 [GRCh38]
ChrMT:8790 [GRCh37]
likely benign
NC_012920.1:m.8540T>C single nucleotide variant Leigh syndrome [RCV000854224]|not provided [RCV000224948] ChrMT:8540 [GRCh38]
ChrMT:8540 [GRCh37]
uncertain significance
NC_012920.1:m.8565A>G single nucleotide variant not provided [RCV000224966] ChrMT:8565 [GRCh38]
ChrMT:8565 [GRCh37]
uncertain significance
NC_012920.1:m.8538T>C single nucleotide variant not provided [RCV000224039] ChrMT:8538 [GRCh38]
ChrMT:8538 [GRCh37]
uncertain significance
NC_012920.1:m.8669G>C single nucleotide variant not provided [RCV000757475] ChrMT:8669 [GRCh38]
ChrMT:8669 [GRCh37]
uncertain significance
NC_012920.1:m.8686T>A single nucleotide variant not provided [RCV000757476] ChrMT:8686 [GRCh38]
ChrMT:8686 [GRCh37]
uncertain significance
NC_012920.1:m.8800T>C single nucleotide variant not provided [RCV000757477] ChrMT:8800 [GRCh38]
ChrMT:8800 [GRCh37]
uncertain significance
NC_012920.1:m.8553C>T single nucleotide variant Leigh syndrome [RCV000854233]|not provided [RCV000757478] ChrMT:8553 [GRCh38]
ChrMT:8553 [GRCh37]
likely benign|uncertain significance
m.9185T>C variation Charcot-Marie-Tooth disease [RCV000240612]   pathogenic
NC_012920.1:m.9166T>C single nucleotide variant Leigh syndrome [RCV000854464]|Mitochondrial diseases [RCV001090137]|Optic neuropathy [RCV000408929] ChrMT:9166 [GRCh38]
ChrMT:9166 [GRCh37]
pathogenic|likely pathogenic|uncertain significance
NC_012920.1:m.8943C>T single nucleotide variant not provided [RCV000420877] ChrMT:8943 [GRCh38]
ChrMT:8943 [GRCh37]
likely benign
NC_012920.1(MT-ATP6):m.9091A>G single nucleotide variant Leigh syndrome [RCV000854431]|not provided [RCV000423626] ChrMT:9091 [GRCh38]
ChrMT:9091 [GRCh37]
likely benign|uncertain significance
NC_012920.1:m.8816A>G single nucleotide variant not provided [RCV000427129] ChrMT:8816 [GRCh38]
ChrMT:8816 [GRCh37]
uncertain significance
NC_012920.1:m.8886G>A single nucleotide variant not provided [RCV000436087] ChrMT:8886 [GRCh38]
ChrMT:8886 [GRCh37]
likely benign
NC_012920.1:m.8781C>A single nucleotide variant not provided [RCV000436810] ChrMT:8781 [GRCh38]
ChrMT:8781 [GRCh37]
uncertain significance
NC_012920.1:m.8651T>C single nucleotide variant Leigh syndrome [RCV000854277]|not provided [RCV000509112] ChrMT:8651 [GRCh38]
ChrMT:8651 [GRCh37]
uncertain significance|not provided
NC_012920.1:m.9041A>G single nucleotide variant Leigh syndrome [RCV000854408]|not provided [RCV000509426] ChrMT:9041 [GRCh38]
ChrMT:9041 [GRCh37]
benign|not provided
NC_012920.1:m.9157G>A single nucleotide variant Leigh syndrome [RCV000854461]|not provided [RCV000509437] ChrMT:9157 [GRCh38]
ChrMT:9157 [GRCh37]
likely benign|not provided
NC_012920.1:m.8483_13459del4977 deletion Kearns Sayre syndrome [RCV000855712]|Mitochondrial diseases [RCV000495046] ChrMT:8483..13459 [GRCh38]
ChrMT:8483..13459 [GRCh37]
pathogenic
NC_012920.1:m.8815_13722del4908 deletion Mitochondrial diseases [RCV000494750] ChrMT:8815..13722 [GRCh38]
ChrMT:8815..13722 [GRCh37]
pathogenic
NC_012920.1:m.6003_11220del5218 deletion Mitochondrial diseases [RCV000495067] ChrMT:6003..11220 [GRCh38]
ChrMT:6003..11220 [GRCh37]
pathogenic
NC_012920.1:m.7730_11255del3526 deletion Mitochondrial diseases [RCV000495092] ChrMT:7730..11255 [GRCh38]
ChrMT:7730..11255 [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.6469_15587del9119 deletion Mitochondrial diseases [RCV000495334] ChrMT:6469..15587 [GRCh38]
ChrMT:6469..15587 [GRCh37]
pathogenic
NC_012920.1:m.8587_12967del4381 deletion Mitochondrial diseases [RCV000495437] ChrMT:8587..12967 [GRCh38]
ChrMT:8587..12967 [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.7129_13991del6863 deletion Mitochondrial diseases [RCV000495692] ChrMT:7129..13991 [GRCh38]
ChrMT:7129..13991 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1:m.9006A>G single nucleotide variant not provided [RCV000514156] ChrMT:9006 [GRCh38]
ChrMT:9006 [GRCh37]
likely benign
NC_012920.1:m.8686T>C single nucleotide variant Leber's optic atrophy [RCV000709918]|Leigh syndrome [RCV000854289] ChrMT:8686 [GRCh38]
ChrMT:8686 [GRCh37]
uncertain significance|not provided
NC_012920.1:m.8530A>G single nucleotide variant Leigh syndrome [RCV000854220] ChrMT:8530 [GRCh38]
ChrMT:8530 [GRCh37]
likely benign
NC_012920.1:m.8531A>G single nucleotide variant Leigh syndrome [RCV000854221] ChrMT:8531 [GRCh38]
ChrMT:8531 [GRCh37]
likely benign
NC_012920.1:m.8537A>G single nucleotide variant Leigh syndrome [RCV000854223] ChrMT:8537 [GRCh38]
ChrMT:8537 [GRCh37]
benign
NC_012920.1:m.8550A>G single nucleotide variant Leigh syndrome [RCV000854230] ChrMT:8550 [GRCh38]
ChrMT:8550 [GRCh37]
uncertain significance
NC_012920.1:m.8551T>C single nucleotide variant Leigh syndrome [RCV000854231] ChrMT:8551 [GRCh38]
ChrMT:8551 [GRCh37]
likely benign
NC_012920.1:m.8557G>C single nucleotide variant Leigh syndrome [RCV000854236] ChrMT:8557 [GRCh38]
ChrMT:8557 [GRCh37]
likely benign
NC_012920.1:m.8568C>A single nucleotide variant Leigh syndrome [RCV000854241] ChrMT:8568 [GRCh38]
ChrMT:8568 [GRCh37]
uncertain significance
NC_012920.1:m.8576T>C single nucleotide variant Leigh syndrome [RCV000854244] ChrMT:8576 [GRCh38]
ChrMT:8576 [GRCh37]
uncertain significance
NC_012920.1:m.8605C>T single nucleotide variant Leigh syndrome [RCV000854257] ChrMT:8605 [GRCh38]
ChrMT:8605 [GRCh37]
uncertain significance
NC_012920.1:m.8618T>C single nucleotide variant Leigh syndrome [RCV000854263] ChrMT:8618 [GRCh38]
ChrMT:8618 [GRCh37]
benign
NC_012920.1:m.8624C>T single nucleotide variant Leigh syndrome [RCV000854267] ChrMT:8624 [GRCh38]
ChrMT:8624 [GRCh37]
likely benign
NC_012920.1:m.8639T>C single nucleotide variant Leigh syndrome [RCV000854272] ChrMT:8639 [GRCh38]
ChrMT:8639 [GRCh37]
benign
NC_012920.1:m.8642A>G single nucleotide variant Leigh syndrome [RCV000854274] ChrMT:8642 [GRCh38]
ChrMT:8642 [GRCh37]
benign
NC_012920.1:m.8642A>C single nucleotide variant Leigh syndrome [RCV000854275] ChrMT:8642 [GRCh38]
ChrMT:8642 [GRCh37]
uncertain significance
NC_012920.1:m.8653A>G single nucleotide variant Leigh syndrome [RCV000854278] ChrMT:8653 [GRCh38]
ChrMT:8653 [GRCh37]
benign
NC_012920.1:m.8659A>G single nucleotide variant Leigh syndrome [RCV000854282] ChrMT:8659 [GRCh38]
ChrMT:8659 [GRCh37]
benign
NC_012920.1:m.8666A>G single nucleotide variant Leigh syndrome [RCV000854283] ChrMT:8666 [GRCh38]
ChrMT:8666 [GRCh37]
likely benign
NC_012920.1:m.8668T>C single nucleotide variant Leigh syndrome [RCV000854284] ChrMT:8668 [GRCh38]
ChrMT:8668 [GRCh37]
benign
NC_012920.1:m.8683A>G single nucleotide variant Leigh syndrome [RCV000854287] ChrMT:8683 [GRCh38]
ChrMT:8683 [GRCh37]
benign
NC_012920.1:m.8700A>T single nucleotide variant Leigh syndrome [RCV000854292] ChrMT:8700 [GRCh38]
ChrMT:8700 [GRCh37]
uncertain significance
NC_012920.1:m.8705T>C single nucleotide variant Leigh syndrome [RCV000854296] ChrMT:8705 [GRCh38]
ChrMT:8705 [GRCh37]
benign
NC_012920.1:m.8714C>T single nucleotide variant Leigh syndrome [RCV000854299] ChrMT:8714 [GRCh38]
ChrMT:8714 [GRCh37]
uncertain significance
NC_012920.1:m.8722C>T single nucleotide variant Leigh syndrome [RCV000854303] ChrMT:8722 [GRCh38]
ChrMT:8722 [GRCh37]
uncertain significance
NC_012920.1:m.8735T>C single nucleotide variant Leigh syndrome [RCV000854308] ChrMT:8735 [GRCh38]
ChrMT:8735 [GRCh37]
uncertain significance
NC_012920.1:m.8750T>C single nucleotide variant Leigh syndrome [RCV000854312] ChrMT:8750 [GRCh38]
ChrMT:8750 [GRCh37]
likely benign
NC_012920.1:m.8761A>C single nucleotide variant Leigh syndrome [RCV000854315] ChrMT:8761 [GRCh38]
ChrMT:8761 [GRCh37]
uncertain significance
NC_012920.1:m.8767A>G single nucleotide variant Leigh syndrome [RCV000854319] ChrMT:8767 [GRCh38]
ChrMT:8767 [GRCh37]
likely benign
NC_012920.1:m.8785C>G single nucleotide variant Leigh syndrome [RCV000854324] ChrMT:8785 [GRCh38]
ChrMT:8785 [GRCh37]
uncertain significance
NC_012920.1:m.8794C>T single nucleotide variant Leigh syndrome [RCV000854326] ChrMT:8794 [GRCh38]
ChrMT:8794 [GRCh37]
benign
NC_012920.1:m.8824A>G single nucleotide variant Leigh syndrome [RCV000854333] ChrMT:8824 [GRCh38]
ChrMT:8824 [GRCh37]
uncertain significance
NC_012920.1:m.8825T>C single nucleotide variant Leigh syndrome [RCV000854334] ChrMT:8825 [GRCh38]
ChrMT:8825 [GRCh37]
uncertain significance
NC_012920.1:m.8842A>C single nucleotide variant Leigh syndrome [RCV000854338] ChrMT:8842 [GRCh38]
ChrMT:8842 [GRCh37]
likely benign
NC_012920.1:m.8843T>C single nucleotide variant Leigh syndrome [RCV000854340] ChrMT:8843 [GRCh38]
ChrMT:8843 [GRCh37]
benign
NC_012920.1:m.8860A>G single nucleotide variant Leigh syndrome [RCV000854344] ChrMT:8860 [GRCh38]
ChrMT:8860 [GRCh37]
benign
NC_012920.1:m.8863G>A single nucleotide variant Leigh syndrome [RCV000854345] ChrMT:8863 [GRCh38]
ChrMT:8863 [GRCh37]
uncertain significance
NC_012920.1:m.8866A>G single nucleotide variant Leigh syndrome [RCV000854347] ChrMT:8866 [GRCh38]
ChrMT:8866 [GRCh37]
benign
NC_012920.1:m.8870T>C single nucleotide variant Leigh syndrome [RCV000854350] ChrMT:8870 [GRCh38]
ChrMT:8870 [GRCh37]
benign
NC_012920.1:m.8873G>C single nucleotide variant Leigh syndrome [RCV000854351] ChrMT:8873 [GRCh38]
ChrMT:8873 [GRCh37]
uncertain significance
NC_012920.1:m.8875T>C single nucleotide variant Leigh syndrome [RCV000854352] ChrMT:8875 [GRCh38]
ChrMT:8875 [GRCh37]
benign
NC_012920.1:m.8895T>A single nucleotide variant Leigh syndrome [RCV000854356] ChrMT:8895 [GRCh38]
ChrMT:8895 [GRCh37]
likely benign
NC_012920.1:m.8896G>A single nucleotide variant Leigh syndrome [RCV000854357] ChrMT:8896 [GRCh38]
ChrMT:8896 [GRCh37]
benign
NC_012920.1:m.8897C>T single nucleotide variant Leigh syndrome [RCV000854358] ChrMT:8897 [GRCh38]
ChrMT:8897 [GRCh37]
benign
NC_012920.1:m.8910C>A single nucleotide variant Leigh syndrome [RCV000854361] ChrMT:8910 [GRCh38]
ChrMT:8910 [GRCh37]
benign
NC_012920.1:m.8933C>T single nucleotide variant Leigh syndrome [RCV000854367] ChrMT:8933 [GRCh38]
ChrMT:8933 [GRCh37]
uncertain significance
NC_012920.1:m.8939T>C single nucleotide variant Leigh syndrome [RCV000854371] ChrMT:8939 [GRCh38]
ChrMT:8939 [GRCh37]
likely benign
NC_012920.1:m.8951T>C single nucleotide variant Leigh syndrome [RCV000854375] ChrMT:8951 [GRCh38]
ChrMT:8951 [GRCh37]
uncertain significance
NC_012920.1:m.8962A>G single nucleotide variant Leigh syndrome [RCV000854379] ChrMT:8962 [GRCh38]
ChrMT:8962 [GRCh37]
benign
NC_012920.1:m.8966T>C single nucleotide variant Leigh syndrome [RCV000854380] ChrMT:8966 [GRCh38]
ChrMT:8966 [GRCh37]
likely benign
NC_012920.1:m.8987T>C single nucleotide variant Leigh syndrome [RCV000854388] ChrMT:8987 [GRCh38]
ChrMT:8987 [GRCh37]
likely benign
NC_012920.1:m.9007A>T single nucleotide variant Leigh syndrome [RCV000854396] ChrMT:9007 [GRCh38]
ChrMT:9007 [GRCh37]
likely benign
NC_012920.1:m.9010G>A single nucleotide variant Leigh syndrome [RCV000854397] ChrMT:9010 [GRCh38]
ChrMT:9010 [GRCh37]
likely benign
NC_012920.1:m.9025G>A single nucleotide variant Leigh syndrome [RCV000854401] ChrMT:9025 [GRCh38]
ChrMT:9025 [GRCh37]
benign
NC_012920.1:m.9049G>A single nucleotide variant Cerebellar ataxia [RCV000993792]|Leigh syndrome [RCV000854410] ChrMT:9049 [GRCh38]
ChrMT:9049 [GRCh37]
likely pathogenic
NC_012920.1:m.9053G>A single nucleotide variant Leigh syndrome [RCV000854412] ChrMT:9053 [GRCh38]
ChrMT:9053 [GRCh37]
benign
NC_012920.1:m.9055G>A single nucleotide variant Leigh syndrome [RCV000854413] ChrMT:9055 [GRCh38]
ChrMT:9055 [GRCh37]
benign
NC_012920.1:m.9064G>A single nucleotide variant Leigh syndrome [RCV000854417] ChrMT:9064 [GRCh38]
ChrMT:9064 [GRCh37]
benign
NC_012920.1:m.9070T>C single nucleotide variant Leigh syndrome [RCV000854419] ChrMT:9070 [GRCh38]
ChrMT:9070 [GRCh37]
uncertain significance
NC_012920.1:m.9073A>C single nucleotide variant Leigh syndrome [RCV000854422] ChrMT:9073 [GRCh38]
ChrMT:9073 [GRCh37]
uncertain significance
NC_012920.1:m.9077T>C single nucleotide variant Leigh syndrome [RCV000854423] ChrMT:9077 [GRCh38]
ChrMT:9077 [GRCh37]
benign
NC_012920.1:m.9080A>G single nucleotide variant Leigh syndrome [RCV000854425] ChrMT:9080 [GRCh38]
ChrMT:9080 [GRCh37]
benign
NC_012920.1:m.9083T>C single nucleotide variant Leigh syndrome [RCV000854427] ChrMT:9083 [GRCh38]
ChrMT:9083 [GRCh37]
benign
NC_012920.1:m.9085C>A single nucleotide variant Leigh syndrome [RCV000854428] ChrMT:9085 [GRCh38]
ChrMT:9085 [GRCh37]
uncertain significance
NC_012920.1:m.9086C>T single nucleotide variant Leigh syndrome [RCV000854429] ChrMT:9086 [GRCh38]
ChrMT:9086 [GRCh37]
uncertain significance
NC_012920.1:m.9097A>G single nucleotide variant Leigh syndrome [RCV000854434] ChrMT:9097 [GRCh38]
ChrMT:9097 [GRCh37]
benign
NC_012920.1:m.9098T>G single nucleotide variant Leigh syndrome [RCV000854436] ChrMT:9098 [GRCh38]
ChrMT:9098 [GRCh37]
benign
NC_012920.1:m.9099C>A single nucleotide variant Leigh syndrome [RCV000854437] ChrMT:9099 [GRCh38]
ChrMT:9099 [GRCh37]
uncertain significance
NC_012920.1:m.9100A>G single nucleotide variant Leigh syndrome [RCV000854438] ChrMT:9100 [GRCh38]
ChrMT:9100 [GRCh37]
benign
NC_012920.1:m.9110T>C single nucleotide variant Leigh syndrome [RCV000854444] ChrMT:9110 [GRCh38]
ChrMT:9110 [GRCh37]
benign
NC_012920.1:m.9115A>G single nucleotide variant Leigh syndrome [RCV000854445] ChrMT:9115 [GRCh38]
ChrMT:9115 [GRCh37]
benign
NC_012920.1:m.9122T>G single nucleotide variant Leigh syndrome [RCV000854447] ChrMT:9122 [GRCh38]
ChrMT:9122 [GRCh37]
uncertain significance
NC_012920.1:m.9127A>G single nucleotide variant Leigh syndrome [RCV000854449] ChrMT:9127 [GRCh38]
ChrMT:9127 [GRCh37]
benign
NC_012920.1:m.9130C>A single nucleotide variant Leigh syndrome [RCV000854451] ChrMT:9130 [GRCh38]
ChrMT:9130 [GRCh37]
likely benign
NC_012920.1:m.9137T>C single nucleotide variant Leigh syndrome [RCV000854454] ChrMT:9137 [GRCh38]
ChrMT:9137 [GRCh37]
benign
NC_012920.1:m.9163G>A single nucleotide variant Leigh syndrome [RCV000854463] ChrMT:9163 [GRCh38]
ChrMT:9163 [GRCh37]
benign
NC_012920.1:m.9167T>C single nucleotide variant Leigh syndrome [RCV000854465] ChrMT:9167 [GRCh38]
ChrMT:9167 [GRCh37]
uncertain significance
NC_012920.1:m.9179T>C single nucleotide variant Leigh syndrome [RCV000854468] ChrMT:9179 [GRCh38]
ChrMT:9179 [GRCh37]
uncertain significance
NC_012920.1:m.9181A>G single nucleotide variant Leigh syndrome [RCV000854469] ChrMT:9181 [GRCh38]
ChrMT:9181 [GRCh37]
benign
NC_012920.1:m.9182G>A single nucleotide variant Leigh syndrome [RCV000854470] ChrMT:9182 [GRCh38]
ChrMT:9182 [GRCh37]
benign
NC_012920.1:m.9194A>G single nucleotide variant Leigh syndrome [RCV000854472] ChrMT:9194 [GRCh38]
ChrMT:9194 [GRCh37]
uncertain significance
NC_012920.1:m.9196G>A single nucleotide variant Leigh syndrome [RCV000854473] ChrMT:9196 [GRCh38]
ChrMT:9196 [GRCh37]
benign
NC_012920.1:m.9202A>G single nucleotide variant Leigh syndrome [RCV000854474] ChrMT:9202 [GRCh38]
ChrMT:9202 [GRCh37]
uncertain significance
NC_012920.1:m.9205T>C single nucleotide variant Leigh syndrome [RCV000854475] ChrMT:9205 [GRCh38]
ChrMT:9205 [GRCh37]
uncertain significance
NC_012920.1:m.8561_8562insCAC duplication Abnormal mitral valve physiology [RCV000770897] ChrMT:8560..8561 [GRCh38]
ChrMT:8560..8561 [GRCh37]
pathogenic
NC_012920.1:m.8350_13450del deletion Pearson syndrome [RCV000790615] ChrMT:8350..13450 [GRCh38]
ChrMT:8350..13450 [GRCh37]
pathogenic
NC_012920.1:m.8751_8752insAAA insertion Bicuspid aortic valve [RCV000771000] ChrMT:8750..8751 [GRCh38]
ChrMT:8750..8751 [GRCh37]
pathogenic
NC_012920.1:m.8950G>A single nucleotide variant Bicuspid aortic valve [RCV000766134]|Leigh syndrome [RCV000854374] ChrMT:8950 [GRCh38]
ChrMT:8950 [GRCh37]
likely pathogenic|benign
NC_012920.1:m.8480_13440del deletion Pearson syndrome [RCV000790614] ChrMT:8480..13440 [GRCh38]
ChrMT:8480..13440 [GRCh37]
pathogenic
NC_012920.1:m.8878C>T single nucleotide variant not provided [RCV001175268] ChrMT:8878 [GRCh38]
ChrMT:8878 [GRCh37]
not provided
NC_012920.1:m.8946A>T single nucleotide variant not provided [RCV001175273] ChrMT:8946 [GRCh38]
ChrMT:8946 [GRCh37]
not provided
NC_012920.1(MT-ATP6):m.9035T>C single nucleotide variant Leigh syndrome [RCV000854406]|Progressive cerebellar ataxia [RCV000851177]|Spasticity [RCV001196557] ChrMT:9035 [GRCh38]
ChrMT:9035 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1:m.8533G>A single nucleotide variant Leigh syndrome [RCV000854222] ChrMT:8533 [GRCh38]
ChrMT:8533 [GRCh37]
likely benign
NC_012920.1:m.8547T>C single nucleotide variant Leigh syndrome [RCV000854228] ChrMT:8547 [GRCh38]
ChrMT:8547 [GRCh37]
likely benign
NC_012920.1:m.8563A>G single nucleotide variant Leigh syndrome [RCV000854238] ChrMT:8563 [GRCh38]
ChrMT:8563 [GRCh37]
benign
NC_012920.1:m.8567T>C single nucleotide variant Leigh syndrome [RCV000854240] ChrMT:8567 [GRCh38]
ChrMT:8567 [GRCh37]
benign
NC_012920.1:m.8599C>A single nucleotide variant Leigh syndrome [RCV000854254] ChrMT:8599 [GRCh38]
ChrMT:8599 [GRCh37]
uncertain significance
NC_012920.1:m.8612T>C single nucleotide variant Leigh syndrome [RCV000854259] ChrMT:8612 [GRCh38]
ChrMT:8612 [GRCh37]
uncertain significance
NC_012920.1:m.8638A>G single nucleotide variant Leigh syndrome [RCV000854271] ChrMT:8638 [GRCh38]
ChrMT:8638 [GRCh37]
likely benign
NC_012920.1:m.8641A>G single nucleotide variant Leigh syndrome [RCV000854273] ChrMT:8641 [GRCh38]
ChrMT:8641 [GRCh37]
uncertain significance
NC_012920.1:m.8657C>T single nucleotide variant Leigh syndrome [RCV000854281] ChrMT:8657 [GRCh38]
ChrMT:8657 [GRCh37]
likely benign
NC_012920.1:m.8713A>G single nucleotide variant Leigh syndrome [RCV000854298] ChrMT:8713 [GRCh38]
ChrMT:8713 [GRCh37]
likely benign
NC_012920.1:m.8737A>G single nucleotide variant Leigh syndrome [RCV000854309] ChrMT:8737 [GRCh38]
ChrMT:8737 [GRCh37]
uncertain significance
NC_012920.1:m.8746T>C single nucleotide variant Leigh syndrome [RCV000854311] ChrMT:8746 [GRCh38]
ChrMT:8746 [GRCh37]
uncertain significance
NC_012920.1:m.8752A>G single nucleotide variant Leigh syndrome [RCV000854313] ChrMT:8752 [GRCh38]
ChrMT:8752 [GRCh37]
benign
NC_012920.1:m.8764G>A single nucleotide variant Leigh syndrome [RCV000854317] ChrMT:8764 [GRCh38]
ChrMT:8764 [GRCh37]
benign
NC_012920.1:m.8768C>T single nucleotide variant Leigh syndrome [RCV000854320] ChrMT:8768 [GRCh38]
ChrMT:8768 [GRCh37]
benign
NC_012920.1:m.8812A>G single nucleotide variant Leigh syndrome [RCV000854330] ChrMT:8812 [GRCh38]
ChrMT:8812 [GRCh37]
benign
NC_012920.1:m.8812A>T single nucleotide variant Leigh syndrome [RCV000854331] ChrMT:8812 [GRCh38]
ChrMT:8812 [GRCh37]
uncertain significance
NC_012920.1:m.8840C>T single nucleotide variant Leigh syndrome [RCV000854337] ChrMT:8840 [GRCh38]
ChrMT:8840 [GRCh37]
uncertain significance
NC_012920.1:m.8868T>A single nucleotide variant Leigh syndrome [RCV000854348] ChrMT:8868 [GRCh38]
ChrMT:8868 [GRCh37]
uncertain significance
NC_012920.1:m.8920G>A single nucleotide variant Leigh syndrome [RCV000854362] ChrMT:8920 [GRCh38]
ChrMT:8920 [GRCh37]
uncertain significance
NC_012920.1:m.8930C>T single nucleotide variant Leigh syndrome [RCV000854365] ChrMT:8930 [GRCh38]
ChrMT:8930 [GRCh37]
likely benign
NC_012920.1:m.8936T>C single nucleotide variant Leigh syndrome [RCV000854369] ChrMT:8936 [GRCh38]
ChrMT:8936 [GRCh37]
uncertain significance
NC_012920.1:m.8974C>G single nucleotide variant Leigh syndrome [RCV000854383] ChrMT:8974 [GRCh38]
ChrMT:8974 [GRCh37]
likely benign
NC_012920.1:m.8975T>C single nucleotide variant Leigh syndrome [RCV000854384] ChrMT:8975 [GRCh38]
ChrMT:8975 [GRCh37]
likely benign
NC_012920.1:m.9029A>G single nucleotide variant Leigh syndrome [RCV000854404] ChrMT:9029 [GRCh38]
ChrMT:9029 [GRCh37]
uncertain significance
NC_012920.1:m.9032T>C single nucleotide variant Cerebellar ataxia [RCV001003642]|Leigh syndrome [RCV000854405] ChrMT:9032 [GRCh38]
ChrMT:9032 [GRCh37]
pathogenic|likely pathogenic
NC_012920.1:m.9056C>T single nucleotide variant Leigh syndrome [RCV000854414] ChrMT:9056 [GRCh38]
ChrMT:9056 [GRCh37]
benign
NC_012920.1:m.9058A>C single nucleotide variant Leigh syndrome [RCV000854416] ChrMT:9058 [GRCh38]
ChrMT:9058 [GRCh37]
uncertain significance
NC_012920.1:m.9088T>C single nucleotide variant Leigh syndrome [RCV000854430] ChrMT:9088 [GRCh38]
ChrMT:9088 [GRCh37]
benign
NC_012920.1:m.9098T>C single nucleotide variant Leigh syndrome [RCV000854435] ChrMT:9098 [GRCh38]
ChrMT:9098 [GRCh37]
benign
NC_012920.1:m.9103T>C single nucleotide variant Leigh syndrome [RCV000854441] ChrMT:9103 [GRCh38]
ChrMT:9103 [GRCh37]
benign
NC_012920.1:m.9104T>C single nucleotide variant Leigh syndrome [RCV000854442] ChrMT:9104 [GRCh38]
ChrMT:9104 [GRCh37]
uncertain significance
NC_012920.1:m.9134A>G single nucleotide variant Leigh syndrome [RCV000854453] ChrMT:9134 [GRCh38]
ChrMT:9134 [GRCh37]
likely pathogenic
NC_012920.1:m.9142G>A single nucleotide variant Leigh syndrome [RCV000854457] ChrMT:9142 [GRCh38]
ChrMT:9142 [GRCh37]
benign
NC_012920.1:m.9145G>A single nucleotide variant Leigh syndrome [RCV000854458] ChrMT:9145 [GRCh38]
ChrMT:9145 [GRCh37]
benign
NC_012920.1:m.9169A>G single nucleotide variant Leigh syndrome [RCV000854466] ChrMT:9169 [GRCh38]
ChrMT:9169 [GRCh37]
uncertain significance
NC_012920.1:m.9188A>G single nucleotide variant Leigh syndrome [RCV000854471] ChrMT:9188 [GRCh38]
ChrMT:9188 [GRCh37]
uncertain significance
NC_012920.1:m.8578C>T single nucleotide variant Leigh syndrome [RCV000854245] ChrMT:8578 [GRCh38]
ChrMT:8578 [GRCh37]
benign
NC_012920.1:m.8591T>C single nucleotide variant Leigh syndrome [RCV000854250] ChrMT:8591 [GRCh38]
ChrMT:8591 [GRCh37]
uncertain significance
NC_012920.1:m.8596A>G single nucleotide variant Leigh syndrome [RCV000854252] ChrMT:8596 [GRCh38]
ChrMT:8596 [GRCh37]
likely benign
NC_012920.1:m.8602T>C single nucleotide variant Leigh syndrome [RCV000854255] ChrMT:8602 [GRCh38]
ChrMT:8602 [GRCh37]
benign
NC_012920.1:m.8615T>C single nucleotide variant Leigh syndrome [RCV000854260] ChrMT:8615 [GRCh38]
ChrMT:8615 [GRCh37]
uncertain significance
NC_012920.1:m.8632T>C single nucleotide variant Leigh syndrome [RCV000854269] ChrMT:8632 [GRCh38]
ChrMT:8632 [GRCh37]
benign
NC_012920.1:m.8679A>C single nucleotide variant Leigh syndrome [RCV000854285] ChrMT:8679 [GRCh38]
ChrMT:8679 [GRCh37]
likely benign
NC_012920.1:m.8684C>T single nucleotide variant Leigh syndrome [RCV000854288] ChrMT:8684 [GRCh38]
ChrMT:8684 [GRCh37]
benign
NC_012920.1:m.8699T>C single nucleotide variant Leigh syndrome [RCV000854291] ChrMT:8699 [GRCh38]
ChrMT:8699 [GRCh37]
uncertain significance
NC_012920.1:m.8720G>C single nucleotide variant Leigh syndrome [RCV000854301] ChrMT:8720 [GRCh38]
ChrMT:8720 [GRCh37]
uncertain significance
NC_012920.1:m.8762T>C single nucleotide variant Leigh syndrome [RCV000854316] ChrMT:8762 [GRCh38]
ChrMT:8762 [GRCh37]
benign
NC_012920.1:m.8765C>T single nucleotide variant Leigh syndrome [RCV000854318] ChrMT:8765 [GRCh38]
ChrMT:8765 [GRCh37]
likely benign
NC_012920.1:m.8854G>A single nucleotide variant Leigh syndrome [RCV000854342] ChrMT:8854 [GRCh38]
ChrMT:8854 [GRCh37]
benign
NC_012920.1:m.8879G>A single nucleotide variant Leigh syndrome [RCV000854353] ChrMT:8879 [GRCh38]
ChrMT:8879 [GRCh37]
uncertain significance
NC_012920.1:m.8887A>G single nucleotide variant Leigh syndrome [RCV000854354] ChrMT:8887 [GRCh38]
ChrMT:8887 [GRCh37]
benign
NC_012920.1:m.8906A>C single nucleotide variant Leigh syndrome [RCV000854359] ChrMT:8906 [GRCh38]
ChrMT:8906 [GRCh37]
uncertain significance
NC_012920.1:m.8923A>G single nucleotide variant Leigh syndrome [RCV000854364] ChrMT:8923 [GRCh38]
ChrMT:8923 [GRCh37]
likely benign
NC_012920.1:m.8938A>G single nucleotide variant Leigh syndrome [RCV000854370] ChrMT:8938 [GRCh38]
ChrMT:8938 [GRCh37]
benign
NC_012920.1:m.8972T>C single nucleotide variant Leigh syndrome [RCV000854382] ChrMT:8972 [GRCh38]
ChrMT:8972 [GRCh37]
uncertain significance
NC_012920.1:m.8981A>G single nucleotide variant Leigh syndrome [RCV000854386] ChrMT:8981 [GRCh38]
ChrMT:8981 [GRCh37]
likely benign
NC_012920.1:m.8999T>C single nucleotide variant Leigh syndrome [RCV000854393] ChrMT:8999 [GRCh38]
ChrMT:8999 [GRCh37]
likely benign
NC_012920.1:m.9016A>G single nucleotide variant Leigh syndrome [RCV000854399] ChrMT:9016 [GRCh38]
ChrMT:9016 [GRCh37]
likely benign
NC_012920.1:m.9019A>G single nucleotide variant Leigh syndrome [RCV000854400] ChrMT:9019 [GRCh38]
ChrMT:9019 [GRCh37]
uncertain significance
NC_012920.1:m.9052A>G single nucleotide variant Leigh syndrome [RCV000854411] ChrMT:9052 [GRCh38]
ChrMT:9052 [GRCh37]
benign
NC_012920.1:m.9067A>G single nucleotide variant Leigh syndrome [RCV000854418] ChrMT:9067 [GRCh38]
ChrMT:9067 [GRCh37]
benign
NC_012920.1:m.9070T>G single nucleotide variant Leigh syndrome [RCV000854420] ChrMT:9070 [GRCh38]
ChrMT:9070 [GRCh37]
benign
NC_012920.1:m.9082C>T single nucleotide variant Leigh syndrome [RCV000854426] ChrMT:9082 [GRCh38]
ChrMT:9082 [GRCh37]
uncertain significance
NC_012920.1:m.9133G>A single nucleotide variant Leigh syndrome [RCV000854452] ChrMT:9133 [GRCh38]
ChrMT:9133 [GRCh37]
uncertain significance
NC_012920.1:m.9170C>T single nucleotide variant Leigh syndrome [RCV000854467] ChrMT:9170 [GRCh38]
ChrMT:9170 [GRCh37]
uncertain significance
NC_012920.1:m.8541G>A single nucleotide variant Leigh syndrome [RCV000854225] ChrMT:8541 [GRCh38]
ChrMT:8541 [GRCh37]
benign
NC_012920.1:m.8545G>A single nucleotide variant Leigh syndrome [RCV000854227] ChrMT:8545 [GRCh38]
ChrMT:8545 [GRCh37]
benign
NC_012920.1:m.8554A>G single nucleotide variant Leigh syndrome [RCV000854234] ChrMT:8554 [GRCh38]
ChrMT:8554 [GRCh37]
likely benign
NC_012920.1:m.8557G>A single nucleotide variant Leigh syndrome [RCV000854235] ChrMT:8557 [GRCh38]
ChrMT:8557 [GRCh37]
benign
NC_012920.1:m.8584G>A single nucleotide variant Leigh syndrome [RCV000854248] ChrMT:8584 [GRCh38]
ChrMT:8584 [GRCh37]
benign
NC_012920.1:m.8603T>C single nucleotide variant Leigh syndrome [RCV000854256] ChrMT:8603 [GRCh38]
ChrMT:8603 [GRCh37]
benign
NC_012920.1:m.8623A>G single nucleotide variant Leigh syndrome [RCV000854265] ChrMT:8623 [GRCh38]
ChrMT:8623 [GRCh37]
likely benign
NC_012920.1:m.8626T>C single nucleotide variant Leigh syndrome [RCV000854268] ChrMT:8626 [GRCh38]
ChrMT:8626 [GRCh37]
likely benign
NC_012920.1:m.8681T>C single nucleotide variant Leigh syndrome [RCV000854286] ChrMT:8681 [GRCh38]
ChrMT:8681 [GRCh37]
benign
NC_012920.1:m.8697G>T single nucleotide variant Leigh syndrome [RCV000854290] ChrMT:8697 [GRCh38]
ChrMT:8697 [GRCh37]
uncertain significance
NC_012920.1:m.8719G>A single nucleotide variant Mitochondrial myopathy, infantile, transient [RCV000854300] ChrMT:8719 [GRCh38]
ChrMT:8719 [GRCh37]
likely pathogenic
NC_012920.1:m.8720G>A single nucleotide variant Leigh syndrome [RCV000854302] ChrMT:8720 [GRCh38]
ChrMT:8720 [GRCh37]
uncertain significance
NC_012920.1:m.8723G>A single nucleotide variant Leigh syndrome [RCV000854304] ChrMT:8723 [GRCh38]
ChrMT:8723 [GRCh37]
benign
NC_012920.1:m.8725A>G single nucleotide variant Leigh syndrome [RCV000854305] ChrMT:8725 [GRCh38]
ChrMT:8725 [GRCh37]
benign
NC_012920.1:m.8728T>C single nucleotide variant Leigh syndrome [RCV000854306] ChrMT:8728 [GRCh38]
ChrMT:8728 [GRCh37]
uncertain significance
NC_012920.1:m.8731T>A single nucleotide variant Leigh syndrome [RCV000854307] ChrMT:8731 [GRCh38]
ChrMT:8731 [GRCh37]
uncertain significance
NC_012920.1:m.8783G>A single nucleotide variant Leigh syndrome [RCV000854322] ChrMT:8783 [GRCh38]
ChrMT:8783 [GRCh37]
likely pathogenic
NC_012920.1:m.8789T>C single nucleotide variant Leigh syndrome [RCV000854325] ChrMT:8789 [GRCh38]
ChrMT:8789 [GRCh37]
uncertain significance
NC_012920.1:m.8800T>G single nucleotide variant Leigh syndrome [RCV000854327] ChrMT:8800 [GRCh38]
ChrMT:8800 [GRCh37]
uncertain significance
NC_012920.1:m.8839G>A single nucleotide variant Leigh syndrome [RCV000854336] ChrMT:8839 [GRCh38]
ChrMT:8839 [GRCh37]
benign
NC_012920.1:m.8869A>G single nucleotide variant Leigh syndrome [RCV000854349] ChrMT:8869 [GRCh38]
ChrMT:8869 [GRCh37]
benign
NC_012920.1:m.8935C>T single nucleotide variant Leigh syndrome [RCV000854368] ChrMT:8935 [GRCh38]
ChrMT:8935 [GRCh37]
uncertain significance
NC_012920.1:m.8941C>T single nucleotide variant Leigh syndrome [RCV000854372] ChrMT:8941 [GRCh38]
ChrMT:8941 [GRCh37]
uncertain significance
NC_012920.1:m.8953A>G single nucleotide variant Leigh syndrome [RCV000854376] ChrMT:8953 [GRCh38]
ChrMT:8953 [GRCh37]
uncertain significance
NC_012920.1:m.8954T>C single nucleotide variant Leigh syndrome [RCV000854377] ChrMT:8954 [GRCh38]
ChrMT:8954 [GRCh37]
uncertain significance
NC_012920.1:m.8959G>A single nucleotide variant Leigh syndrome [RCV000854378] ChrMT:8959 [GRCh38]
ChrMT:8959 [GRCh37]
uncertain significance
NC_012920.1:m.8989G>A single nucleotide variant Leigh syndrome [RCV000854389] ChrMT:8989 [GRCh38]
ChrMT:8989 [GRCh37]
likely benign
NC_012920.1:m.9007A>G single nucleotide variant Leigh syndrome [RCV000854395] ChrMT:9007 [GRCh38]
ChrMT:9007 [GRCh37]
benign
NC_012920.1:m.9014A>G single nucleotide variant Leigh syndrome [RCV000854398] ChrMT:9014 [GRCh38]
ChrMT:9014 [GRCh37]
uncertain significance
NC_012920.1:m.9058A>G single nucleotide variant Leigh syndrome [RCV000854415] ChrMT:9058 [GRCh38]
ChrMT:9058 [GRCh37]
benign
NC_012920.1:m.9071C>T single nucleotide variant Leigh syndrome [RCV000854421] ChrMT:9071 [GRCh38]
ChrMT:9071 [GRCh37]
likely benign
NC_012920.1:m.9094C>T single nucleotide variant Leigh syndrome [RCV000854432] ChrMT:9094 [GRCh38]
ChrMT:9094 [GRCh37]
benign
NC_012920.1:m.9125C>T single nucleotide variant Leigh syndrome [RCV000854448] ChrMT:9125 [GRCh38]
ChrMT:9125 [GRCh37]
uncertain significance
NC_012920.1:m.8542T>C single nucleotide variant Leigh syndrome [RCV000854226] ChrMT:8542 [GRCh38]
ChrMT:8542 [GRCh37]
benign
NC_012920.1:m.8548T>C single nucleotide variant Leigh syndrome [RCV000854229] ChrMT:8548 [GRCh38]
ChrMT:8548 [GRCh37]
benign
NC_012920.1:m.8562C>T single nucleotide variant Leigh syndrome [RCV000854237] ChrMT:8562 [GRCh38]
ChrMT:8562 [GRCh37]
benign
NC_012920.1:m.8581G>A single nucleotide variant Leigh syndrome [RCV000854246] ChrMT:8581 [GRCh38]
ChrMT:8581 [GRCh37]
benign
NC_012920.1:m.8588T>C single nucleotide variant Leigh syndrome [RCV000854249] ChrMT:8588 [GRCh38]
ChrMT:8588 [GRCh37]
benign
NC_012920.1:m.8609C>T single nucleotide variant Leigh syndrome [RCV000854258] ChrMT:8609 [GRCh38]
ChrMT:8609 [GRCh37]
uncertain significance
NC_012920.1:m.8701A>G single nucleotide variant Leigh syndrome [RCV000854293] ChrMT:8701 [GRCh38]
ChrMT:8701 [GRCh37]
benign
NC_012920.1:m.8702C>T single nucleotide variant Leigh syndrome [RCV000854294] ChrMT:8702 [GRCh38]
ChrMT:8702 [GRCh37]
benign
NC_012920.1:m.8711A>G single nucleotide variant Leigh syndrome [RCV000854297] ChrMT:8711 [GRCh38]
ChrMT:8711 [GRCh37]
likely benign
NC_012920.1:m.8744T>C single nucleotide variant Leigh syndrome [RCV000854310] ChrMT:8744 [GRCh38]
ChrMT:8744 [GRCh37]
uncertain significance
NC_012920.1:m.8785C>T single nucleotide variant Leigh syndrome [RCV000854323] ChrMT:8785 [GRCh38]
ChrMT:8785 [GRCh37]
uncertain significance
NC_012920.1:m.8803A>G single nucleotide variant Leigh syndrome [RCV000854328] ChrMT:8803 [GRCh38]
ChrMT:8803 [GRCh37]
likely benign
NC_012920.1:m.8821T>C single nucleotide variant Leigh syndrome [RCV000854332] ChrMT:8821 [GRCh38]
ChrMT:8821 [GRCh37]
uncertain significance
NC_012920.1:m.8844C>A single nucleotide variant Leigh syndrome [RCV000854341] ChrMT:8844 [GRCh38]
ChrMT:8844 [GRCh37]
uncertain significance
NC_012920.1:m.8888T>C single nucleotide variant Leigh syndrome [RCV000854355] ChrMT:8888 [GRCh38]
ChrMT:8888 [GRCh37]
likely benign
NC_012920.1:m.8921G>A single nucleotide variant Leigh syndrome [RCV000854363] ChrMT:8921 [GRCh38]
ChrMT:8921 [GRCh37]
uncertain significance
NC_012920.1:m.8978T>C single nucleotide variant Leigh syndrome [RCV000854385] ChrMT:8978 [GRCh38]
ChrMT:8978 [GRCh37]
benign
NC_012920.1:m.8986A>G single nucleotide variant Leigh syndrome [RCV000854387] ChrMT:8986 [GRCh38]
ChrMT:8986 [GRCh37]
likely benign
NC_012920.1:m.8998G>A single nucleotide variant Leigh syndrome [RCV000854392] ChrMT:8998 [GRCh38]
ChrMT:8998 [GRCh37]
benign
NC_012920.1:m.9005T>C single nucleotide variant Leigh syndrome [RCV000854394] ChrMT:9005 [GRCh38]
ChrMT:9005 [GRCh37]
uncertain significance
NC_012920.1:m.9047T>C single nucleotide variant Leigh syndrome [RCV000854409] ChrMT:9047 [GRCh38]
ChrMT:9047 [GRCh37]
uncertain significance
NC_012920.1:m.9079A>G single nucleotide variant Leigh syndrome [RCV000854424] ChrMT:9079 [GRCh38]
ChrMT:9079 [GRCh37]
likely benign
NC_012920.1:m.9095T>C single nucleotide variant Leigh syndrome [RCV000854433] ChrMT:9095 [GRCh38]
ChrMT:9095 [GRCh37]
likely benign
NC_012920.1:m.9101T>G single nucleotide variant Leigh syndrome [RCV000854440] ChrMT:9101 [GRCh38]
ChrMT:9101 [GRCh37]
benign
NC_012920.1:m.9140C>T single nucleotide variant Leigh syndrome [RCV000854456] ChrMT:9140 [GRCh38]
ChrMT:9140 [GRCh37]
uncertain significance
NC_012920.1:m.9151A>G single nucleotide variant Leigh syndrome [RCV000854459] ChrMT:9151 [GRCh38]
ChrMT:9151 [GRCh37]
benign
NC_012920.1:m.9160T>C single nucleotide variant Leigh syndrome [RCV000854462] ChrMT:9160 [GRCh38]
ChrMT:9160 [GRCh37]
uncertain significance
NC_012920.1:m.8552T>C single nucleotide variant Leigh syndrome [RCV000854232] ChrMT:8552 [GRCh38]
ChrMT:8552 [GRCh37]
benign
NC_012920.1:m.8566A>G single nucleotide variant Leigh syndrome [RCV000854239] ChrMT:8566 [GRCh38]
ChrMT:8566 [GRCh37]
benign
NC_012920.1:m.8572G>A single nucleotide variant Leigh syndrome [RCV000854242] ChrMT:8572 [GRCh38]
ChrMT:8572 [GRCh37]
benign
NC_012920.1:m.8573G>A single nucleotide variant Leigh syndrome [RCV000854243] ChrMT:8573 [GRCh38]
ChrMT:8573 [GRCh37]
benign
NC_012920.1:m.8582C>T single nucleotide variant Leigh syndrome [RCV000854247] ChrMT:8582 [GRCh38]
ChrMT:8582 [GRCh37]
benign
NC_012920.1:m.8593A>G single nucleotide variant Leigh syndrome [RCV000854251] ChrMT:8593 [GRCh38]
ChrMT:8593 [GRCh37]
uncertain significance
NC_012920.1:m.8597T>C single nucleotide variant Leigh syndrome [RCV000854253] ChrMT:8597 [GRCh38]
ChrMT:8597 [GRCh37]
likely benign
NC_012920.1:m.8617A>G single nucleotide variant Leigh syndrome [RCV000854262] ChrMT:8617 [GRCh38]
ChrMT:8617 [GRCh37]
likely benign
NC_012920.1:m.8623A>C single nucleotide variant Leigh syndrome [RCV000854264] ChrMT:8623 [GRCh38]
ChrMT:8623 [GRCh37]
uncertain significance
NC_012920.1:m.8623A>T single nucleotide variant Leigh syndrome [RCV000854266] ChrMT:8623 [GRCh38]
ChrMT:8623 [GRCh37]
uncertain significance
NC_012920.1:m.8635C>T single nucleotide variant Leigh syndrome [RCV000854270] ChrMT:8635 [GRCh38]
ChrMT:8635 [GRCh37]
likely benign
NC_012920.1:m.8648G>A single nucleotide variant Leigh syndrome [RCV000854276] ChrMT:8648 [GRCh38]
ChrMT:8648 [GRCh37]
likely benign
NC_012920.1:m.8654T>C single nucleotide variant Leigh syndrome [RCV000854279] ChrMT:8654 [GRCh38]
ChrMT:8654 [GRCh37]
benign
NC_012920.1:m.8656A>G single nucleotide variant Leigh syndrome [RCV000854280] ChrMT:8656 [GRCh38]
ChrMT:8656 [GRCh37]
likely benign
NC_012920.1:m.8756T>C single nucleotide variant Leigh syndrome [RCV000854314] ChrMT:8756 [GRCh38]
ChrMT:8756 [GRCh37]
benign
NC_012920.1:m.8782G>A single nucleotide variant Leigh syndrome [RCV000854321] ChrMT:8782 [GRCh38]
ChrMT:8782 [GRCh37]
uncertain significance
NC_012920.1:m.8836A>G single nucleotide variant Leigh syndrome [RCV000854335] ChrMT:8836 [GRCh38]
ChrMT:8836 [GRCh37]
benign
NC_012920.1:m.8842A>G single nucleotide variant Leigh syndrome [RCV000854339] ChrMT:8842 [GRCh38]
ChrMT:8842 [GRCh37]
benign
NC_012920.1:m.8857G>A single nucleotide variant Leigh syndrome [RCV000854343] ChrMT:8857 [GRCh38]
ChrMT:8857 [GRCh37]
benign
NC_012920.1:m.8864T>C single nucleotide variant Leigh syndrome [RCV000854346] ChrMT:8864 [GRCh38]
ChrMT:8864 [GRCh37]
benign
NC_012920.1:m.8908T>C single nucleotide variant Leigh syndrome [RCV000854360] ChrMT:8908 [GRCh38]
ChrMT:8908 [GRCh37]
likely benign
NC_012920.1:m.8944A>G single nucleotide variant Leigh syndrome [RCV000854373] ChrMT:8944 [GRCh38]
ChrMT:8944 [GRCh37]
likely benign
NC_012920.1:m.8993_8994inv inversion NARP syndrome [RCV000854391] ChrMT:8993..8994 [GRCh38]
ChrMT:8993..8994 [GRCh37]
pathogenic
NC_012920.1:m.9026G>A single nucleotide variant Leigh syndrome [RCV000854402] ChrMT:9026 [GRCh38]
ChrMT:9026 [GRCh37]
uncertain significance
NC_012920.1:m.9028C>T single nucleotide variant Leigh syndrome [RCV000854403] ChrMT:9028 [GRCh38]
ChrMT:9028 [GRCh37]
uncertain significance
NC_012920.1:m.9038T>C single nucleotide variant Epicanthus [RCV001196451]|Leigh syndrome [RCV000854407] ChrMT:9038 [GRCh38]
ChrMT:9038 [GRCh37]
likely benign|uncertain significance
NC_012920.1:m.9106A>G single nucleotide variant Leigh syndrome [RCV000854443] ChrMT:9106 [GRCh38]
ChrMT:9106 [GRCh37]
uncertain significance
NC_012920.1:m.9116T>C single nucleotide variant Leigh syndrome [RCV000854446] ChrMT:9116 [GRCh38]
ChrMT:9116 [GRCh37]
benign
NC_012920.1:m.9128T>C single nucleotide variant Leigh syndrome [RCV000854450] ChrMT:9128 [GRCh38]
ChrMT:9128 [GRCh37]
benign
NC_012920.1:m.9139G>A single nucleotide variant Leigh syndrome [RCV000854455] ChrMT:9139 [GRCh38]
ChrMT:9139 [GRCh37]
benign
NC_012920.1:m.8980C>A single nucleotide variant Epilepsy [RCV001197582] ChrMT:8980 [GRCh38]
ChrMT:8980 [GRCh37]
uncertain significance
NC_012920.1:m.8568C>T single nucleotide variant not provided [RCV001175266] ChrMT:8568 [GRCh38]
ChrMT:8568 [GRCh37]
not provided
NC_012920.1:m.8806C>T single nucleotide variant not provided [RCV001249233] ChrMT:8806 [GRCh38]
ChrMT:8806 [GRCh37]
not provided
NC_012920.1:m.8570T>C single nucleotide variant Failure to thrive [RCV001078191] ChrMT:8570 [GRCh38]
ChrMT:8570 [GRCh37]
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7414 AgrOrtholog
COSMIC MT-ATP6 COSMIC
Ensembl Genes ENSG00000198899 Ensembl, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000354632 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000361899 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.120.220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198899 GTEx
HGNC ID HGNC:7414 ENTREZGENE
Human Proteome Map MT-ATP6 Human Proteome Map
InterPro ATP_synth_F0_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP_synth_F0_asu_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  F0_ATP_A_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4508 ENTREZGENE
OMIM 516060 OMIM
Pfam ATP-synt_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31221 PharmGKB
PRINTS ATPASEA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ATPASE_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81336 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs ATP_synt_6_or_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ATP6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q0ZFE3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q34772 UniProtKB/Swiss-Prot
  Q5S8W5 UniProtKB/Swiss-Prot
  Q5S9E7 UniProtKB/Swiss-Prot
  Q5S9I6 UniProtKB/Swiss-Prot
  Q5SA31 UniProtKB/Swiss-Prot
  Q6RPB7 UniProtKB/Swiss-Prot
  Q6VHC0 UniProtKB/Swiss-Prot
  Q6VHE0 UniProtKB/Swiss-Prot
  Q6WQF4 UniProtKB/Swiss-Prot
  Q7YCC1 UniProtKB/Swiss-Prot
  Q7YCF8 UniProtKB/Swiss-Prot
  Q7YCG1 UniProtKB/Swiss-Prot
  Q85KU8 UniProtKB/Swiss-Prot
  Q85KX1 UniProtKB/Swiss-Prot
  Q85L05 UniProtKB/Swiss-Prot
  Q8HNQ4 UniProtKB/Swiss-Prot
  Q8HNQ8 UniProtKB/Swiss-Prot
  Q8WCX6 UniProtKB/Swiss-Prot
  Q9B2U5 UniProtKB/Swiss-Prot
  Q9B2Z2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-02-26 MT-ATP6  mitochondrially encoded ATP synthase membrane subunit 6  MT-ATP6  mitochondrially encoded ATP synthase 6  Symbol and/or name change 19259463 PROVISIONAL
2015-05-19 MT-ATP6  mitochondrially encoded ATP synthase 6  ATP6    Symbol and/or name change 5135510 APPROVED
2015-02-10 ATP6  mitochondrially encoded ATP synthase 6  MT-ATP6    Symbol and/or name change 5135510 APPROVED