COQ2 (coenzyme Q2, polyprenyltransferase) - Rat Genome Database

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Gene: COQ2 (coenzyme Q2, polyprenyltransferase) Homo sapiens
Analyze
Symbol: COQ2
Name: coenzyme Q2, polyprenyltransferase
RGD ID: 1603662
HGNC Page HGNC:25223
Description: Enables 4-hydroxybenzoate decaprenyltransferase activity. Involved in glycerol metabolic process and ubiquinone biosynthetic process. Located in mitochondrial inner membrane. Implicated in primary coenzyme Q10 deficiency 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 4-HB polyprenyltransferase; 4-hydroxybenzoate decaprenyltransferase; 4-hydroxybenzoate polyprenyltransferase; 4-hydroxybenzoate polyprenyltransferase, mitochondrial; CL640; coenzyme Q2 4-hydroxybenzoate polyprenyltransferase; coenzyme Q2 homolog, prenyltransferase; COQ10D1; COQ2 homolog; FLJ13014; FLJ26072; hCOQ2; MSA1; para-hydroxybenzoate--polyprenyltransferase; para-hydroxybenzoate--polyprenyltransferase, mitochondrial; para-hydroxybenzoate-polyprenyltransferase, mitochondrial; PHB:polyprenyltransferase; PHB:PPT
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38483,263,824 - 83,285,134 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl483,261,536 - 83,284,914 (-)EnsemblGRCh38hg38GRCh38
GRCh37484,184,977 - 84,206,287 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36484,404,001 - 84,424,988 (-)NCBINCBI36Build 36hg18NCBI36
Celera481,475,423 - 81,496,467 (-)NCBICelera
Cytogenetic Map4q21.23NCBI
HuRef479,927,976 - 79,949,127 (-)NCBIHuRef
CHM1_1484,161,731 - 84,182,795 (-)NCBICHM1_1
T2T-CHM13v2.0486,593,916 - 86,615,230 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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

Human Phenotype
Abnormal brain FDG positron emission tomography  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal rapid eye movement sleep  (IAGP)
Adult onset  (IAGP)
Anemia  (IAGP)
Anhidrosis  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Ataxia  (IAGP)
Autonomic bladder dysfunction  (IAGP)
Autonomic erectile dysfunction  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial dystonia  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure with focal onset  (IAGP)
Bradykinesia  (IAGP)
Broad-based gait  (IAGP)
Camptocormia  (IAGP)
Cardiomegaly  (IAGP)
Central sleep apnea  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Cognitive impairment  (IAGP)
Constipation  (IAGP)
Decreased level of coenzyme Q10 in skeletal muscle  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Downbeat nystagmus  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Dysphonia  (IAGP)
EEG with focal spikes  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Encephalopathy  (IAGP)
Episodic vomiting  (IAGP)
Fatigue  (IAGP)
Female anorgasmia  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Gaze-evoked nystagmus  (IAGP)
Generalized edema  (IAGP)
Global developmental delay  (IAGP)
Glomerular sclerosis  (IAGP)
Heavy proteinuria  (IAGP)
Hepatic failure  (IAGP)
Hypergonadotropic hypogonadism  (IAGP)
Hyperreflexia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoalbuminemia  (IAGP)
Hypohidrosis  (IAGP)
Hypotonia  (IAGP)
Impotence  (IAGP)
Increased serum lactate  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris atrophy  (IAGP)
Lactic acidosis  (IAGP)
Limb ataxia  (IAGP)
Loss of ambulation  (IAGP)
Motor delay  (IAGP)
Myoclonus  (IAGP)
Nephropathy  (IAGP)
Nephrotic syndrome  (IAGP)
Neurodegeneration  (IAGP)
Neuromuscular dysphagia  (IAGP)
Nystagmus  (IAGP)
Oligohydramnios  (IAGP)
Olivopontocerebellar atrophy  (IAGP)
Orofacial dyskinesia  (IAGP)
Orthostatic hypotension  (IAGP)
Orthostatic hypotension due to autonomic dysfunction  (IAGP)
Orthostatic syncope  (IAGP)
Pancytopenia  (IAGP)
Parkinsonism  (IAGP)
Postural instability  (IAGP)
Postural tremor  (IAGP)
Progressive  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive muscle weakness  (IAGP)
Proteinuria  (IAGP)
Ptosis  (IAGP)
Ragged-red muscle fibers  (IAGP)
Raynaud phenomenon  (IAGP)
Recurrent myoglobinuria  (IAGP)
Renal cyst  (IAGP)
Renal tubular acidosis  (IAGP)
Resting tremor  (IAGP)
Right hemiplegia  (IAGP)
Rigidity  (IAGP)
Rod-cone dystrophy  (IAGP)
Scanning speech  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe lactic acidosis  (IAGP)
Skeletal muscle atrophy  (IAGP)
Specific learning disability  (IAGP)
Sporadic  (IAGP)
Status epilepticus  (IAGP)
Stridor  (IAGP)
Tremor  (IAGP)
Tubulointerstitial nephritis  (IAGP)
Undetectable visual evoked potentials  (IAGP)
Urinary incontinence  (IAGP)
Urinary urgency  (IAGP)
Visual loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. New animal models reveal that coenzyme Q2 (Coq2) and placenta-specific 8 (Plac8) are candidate genes for the onset of type 2 diabetes associated with obesity in rats. Sasaki D, etal., Mamm Genome. 2015 Dec;26(11-12):619-29. doi: 10.1007/s00335-015-9597-4. Epub 2015 Aug 22.
Additional References at PubMed
PMID:10737800   PMID:12477932   PMID:14702039   PMID:15153069   PMID:15489334   PMID:15905035   PMID:16400613   PMID:16643834   PMID:16873928   PMID:17332895   PMID:17374725   PMID:17376224  
PMID:17510911   PMID:17855635   PMID:18230681   PMID:19096106   PMID:20301317   PMID:20507940   PMID:20877624   PMID:21873635   PMID:22490322   PMID:23343605   PMID:23758206   PMID:24262183  
PMID:25373618   PMID:25594503   PMID:25613861   PMID:26096180   PMID:26098829   PMID:26590992   PMID:27394078   PMID:27493029   PMID:27499296   PMID:28044327   PMID:28125198   PMID:29128334  
PMID:29644397   PMID:30033366   PMID:30613928   PMID:31398377   PMID:31615875   PMID:32694731   PMID:33215859   PMID:33397173   PMID:33961781   PMID:35559673   PMID:35748722  


Genomics

Comparative Map Data
COQ2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38483,263,824 - 83,285,134 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl483,261,536 - 83,284,914 (-)EnsemblGRCh38hg38GRCh38
GRCh37484,184,977 - 84,206,287 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36484,404,001 - 84,424,988 (-)NCBINCBI36Build 36hg18NCBI36
Celera481,475,423 - 81,496,467 (-)NCBICelera
Cytogenetic Map4q21.23NCBI
HuRef479,927,976 - 79,949,127 (-)NCBIHuRef
CHM1_1484,161,731 - 84,182,795 (-)NCBICHM1_1
T2T-CHM13v2.0486,593,916 - 86,615,230 (-)NCBIT2T-CHM13v2.0
Coq2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395100,802,589 - 100,822,154 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5100,802,589 - 100,823,006 (-)EnsemblGRCm39 Ensembl
GRCm385100,654,723 - 100,674,288 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5100,654,723 - 100,675,140 (-)EnsemblGRCm38mm10GRCm38
MGSCv375101,083,745 - 101,103,275 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365100,895,025 - 100,914,553 (-)NCBIMGSCv36mm8
Celera597,982,052 - 98,001,590 (-)NCBICelera
Cytogenetic Map5E4NCBI
Coq2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2148,941,429 - 8,961,418 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl148,941,461 - 8,960,891 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx148,915,185 - 8,934,633 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01410,215,035 - 10,234,483 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0148,911,662 - 8,931,114 (+)NCBIRnor_WKY
Rnor_6.01410,581,102 - 10,601,093 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1410,581,136 - 10,600,566 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01410,528,319 - 10,548,301 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41410,189,565 - 10,208,996 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11410,195,628 - 10,208,348 (+)NCBI
Celera149,049,524 - 9,068,955 (+)NCBICelera
Cytogenetic Map14p22NCBI
Coq2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554746,403,409 - 6,422,135 (+)NCBIChiLan1.0ChiLan1.0
COQ2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1446,762,458 - 46,784,014 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl446,762,659 - 46,784,014 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0440,913,015 - 40,934,594 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
COQ2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1327,143,476 - 7,162,765 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl327,139,126 - 7,162,764 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3234,722,845 - 34,742,130 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0327,164,793 - 7,184,091 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl327,164,795 - 7,184,106 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1327,235,036 - 7,254,317 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0327,104,281 - 7,123,575 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03232,838,111 - 32,857,407 (+)NCBIUU_Cfam_GSD_1.0
Coq2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244052855,192,591 - 5,266,973 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367381,354,424 - 1,371,497 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COQ2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8135,130,453 - 135,150,031 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18135,130,486 - 135,150,428 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28144,426,855 - 144,445,997 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COQ2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1731,656,294 - 31,677,423 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl731,656,670 - 31,677,274 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603710,251,823 - 10,272,997 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Coq2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624900272,404 - 288,675 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624900272,440 - 288,090 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COQ2
152 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
COQ2, 1-BP DEL, 1198T deletion Coenzyme Q10 deficiency [RCV000001502]|Coenzyme Q10 deficiency, primary 1 [RCV000001502] Chr4:4q21-q22 pathogenic
NM_001358921.2(COQ2):c.225_226insAG (p.Arg76fs) insertion not provided [RCV000722323] Chr4:83284539..83284540 [GRCh38]
Chr4:84205692..84205693 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.225dup (p.Arg76fs) duplication not provided [RCV000722546] Chr4:83284539..83284540 [GRCh38]
Chr4:84205692..84205693 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys) single nucleotide variant Coenzyme Q10 deficiency [RCV000416386]|Coenzyme Q10 deficiency, primary, 1 [RCV000001501] Chr4:83269882 [GRCh38]
Chr4:84191035 [GRCh37]
Chr4:4q21.23
pathogenic|not provided
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) single nucleotide variant Coenzyme Q10 deficiency [RCV000416395]|Coenzyme Q10 deficiency, primary, 1 [RCV000001503]|Coenzyme Q10 deficiency, primary, 1 [RCV002504734]|not provided [RCV001550184] Chr4:83273598 [GRCh38]
Chr4:84194751 [GRCh37]
Chr4:4q21.23
pathogenic|likely pathogenic|not provided
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) single nucleotide variant Coenzyme Q10 deficiency [RCV000416407]|Coenzyme Q10 deficiency, primary, 1 [RCV000001504]|Nephrotic syndrome [RCV001849251]|not provided [RCV001753396] Chr4:83273505 [GRCh38]
Chr4:84194658 [GRCh37]
Chr4:4q21.23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) single nucleotide variant Coenzyme Q10 deficiency [RCV000416406]|Coenzyme Q10 deficiency, primary, 1 [RCV000001505]|Coenzyme Q10 deficiency, primary, 1 [RCV002496230] Chr4:83279081 [GRCh38]
Chr4:84200234 [GRCh37]
Chr4:4q21.23
pathogenic|not provided
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 copy number loss See cases [RCV000050786] Chr4:75453111..84094295 [GRCh38]
Chr4:76378321..85015448 [GRCh37]
Chr4:76597345..85234472 [NCBI36]
Chr4:4q21.1-21.23
pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23
pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] Chr4:74031395..90421127 [GRCh38]
Chr4:74897112..91342278 [GRCh37]
Chr4:75115976..91561301 [NCBI36]
Chr4:4q13.3-22.1
pathogenic
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1 copy number loss See cases [RCV000053297] Chr4:79575748..92412449 [GRCh38]
Chr4:80496902..93333600 [GRCh37]
Chr4:80715926..93552623 [NCBI36]
Chr4:4q21.21-22.1
pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:81061483-83332595)x1 copy number loss See cases [RCV000053298] Chr4:81061483..83332595 [GRCh38]
Chr4:81982637..84253748 [GRCh37]
Chr4:82201661..84472772 [NCBI36]
Chr4:4q21.21-21.23
pathogenic
GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1 copy number loss See cases [RCV000053299] Chr4:81733333..83448842 [GRCh38]
Chr4:82654487..84369995 [GRCh37]
Chr4:82873511..84589019 [NCBI36]
Chr4:4q21.22-21.23
pathogenic
GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1 copy number loss See cases [RCV000053300] Chr4:81802008..83437114 [GRCh38]
Chr4:82723161..84358267 [GRCh37]
Chr4:82942185..84577291 [NCBI36]
Chr4:4q21.22-21.23
pathogenic
GRCh38/hg38 4q21.22-21.3(chr4:82248692-86778340)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]|See cases [RCV000053319] Chr4:82248692..86778340 [GRCh38]
Chr4:83169845..87699493 [GRCh37]
Chr4:83388869..87918517 [NCBI36]
Chr4:4q21.22-21.3
pathogenic
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) single nucleotide variant Coenzyme Q10 deficiency [RCV000416397]|Coenzyme Q10 deficiency, primary, 1 [RCV002271394]|Coenzyme Q10 deficiency, primary, 1 [RCV002490627]|Multiple system atrophy [RCV000054428]|not provided [RCV001853076] Chr4:83284533 [GRCh38]
Chr4:84205686 [GRCh37]
Chr4:4q21.23
pathogenic|likely pathogenic|risk factor|uncertain significance|not provided
NM_001358921.2(COQ2):c.878T>C (p.Val293Ala) single nucleotide variant Multiple system atrophy [RCV000054429] Chr4:83267659 [GRCh38]
Chr4:84188812 [GRCh37]
Chr4:4q21.23
risk factor
NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter) single nucleotide variant Coenzyme Q10 deficiency [RCV000416412]|Multiple system atrophy [RCV000054430] Chr4:83264306 [GRCh38]
Chr4:84185459 [GRCh37]
Chr4:4q21.23
pathogenic|risk factor|not provided
NM_001358921.2(COQ2):c.1010G>A (p.Arg337Gln) single nucleotide variant Multiple system atrophy [RCV000054431] Chr4:83264305 [GRCh38]
Chr4:84185458 [GRCh37]
Chr4:4q21.23
risk factor
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV000613316]|not provided [RCV000676768]|not specified [RCV000116807] Chr4:83284719 [GRCh38]
Chr4:84205872 [GRCh37]
Chr4:4q21.23
benign|likely benign|conflicting interpretations of pathogenicity
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV000606206]|not provided [RCV000676766]|not specified [RCV000116808] Chr4:83269878 [GRCh38]
Chr4:84191031 [GRCh37]
Chr4:4q21.23
benign|likely benign|conflicting interpretations of pathogenicity
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV000603582]|not provided [RCV000676765]|not specified [RCV000116809] Chr4:83267697 [GRCh38]
Chr4:84188850 [GRCh37]
Chr4:4q21.23
benign|likely benign|conflicting interpretations of pathogenicity
NM_001358921.2(COQ2):c.424A>G (p.Thr142Ala) single nucleotide variant not provided [RCV000438954]|not specified [RCV000124531] Chr4:83273614 [GRCh38]
Chr4:84194767 [GRCh37]
Chr4:4q21.23
benign|likely benign
NM_001358921.2(COQ2):c.437A>G (p.Asn146Ser) single nucleotide variant not provided [RCV000429337]|not specified [RCV000124532] Chr4:83273601 [GRCh38]
Chr4:84194754 [GRCh37]
Chr4:4q21.23
benign|likely benign
NM_001358921.2(COQ2):c.762+14C>A single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002492459]|not provided [RCV002055509]|not specified [RCV000124534] Chr4:83269846 [GRCh38]
Chr4:84190999 [GRCh37]
Chr4:4q21.23
benign|likely benign
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002505083]|not provided [RCV000968033]|not specified [RCV000124536] Chr4:83264358 [GRCh38]
Chr4:84185511 [GRCh37]
Chr4:4q21.23
benign|likely benign
NM_015697.9(COQ2):c.-23C>T single nucleotide variant not specified [RCV000124537] Chr4:83284937 [GRCh38]
Chr4:84206090 [GRCh37]
Chr4:4q21.23
benign
NM_015697.9(COQ2):c.64A>C (p.Arg22_Leu23=) single nucleotide variant not provided [RCV000757129]|not specified [RCV000124538] Chr4:83284851 [GRCh38]
Chr4:84206004 [GRCh37]
Chr4:4q21.23
benign|likely benign|conflicting interpretations of pathogenicity
NM_015697.9(COQ2):c.64A>T (p.Arg22Ter) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV000721994]|Coenzyme Q10 deficiency, primary, 1 [RCV002492460]|Focal segmental glomerulosclerosis [RCV002294039]|not provided [RCV000676770]|not specified [RCV000124539] Chr4:83284851 [GRCh38]
Chr4:84206004 [GRCh37]
Chr4:4q21.23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015697.9(COQ2):c.73T>G (p.Leu25Val) single nucleotide variant not provided [RCV000960844]|not specified [RCV000124540] Chr4:83284842 [GRCh38]
Chr4:84205995 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.189G>T (p.Val63=) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294040]|not provided [RCV000961554]|not specified [RCV000124542] Chr4:83284576 [GRCh38]
Chr4:84205729 [GRCh37]
Chr4:4q21.23
benign|likely benign
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 copy number loss See cases [RCV000134977] Chr4:80879777..94809447 [GRCh38]
Chr4:81800931..95730598 [GRCh37]
Chr4:82019955..95949621 [NCBI36]
Chr4:4q21.21-22.3
pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1 copy number loss See cases [RCV000136865] Chr4:79786514..85832807 [GRCh38]
Chr4:80707668..86753960 [GRCh37]
Chr4:80926692..86972984 [NCBI36]
Chr4:4q21.21-21.23
pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24
pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1 copy number loss See cases [RCV000137863] Chr4:80908016..84329610 [GRCh38]
Chr4:81829170..85250763 [GRCh37]
Chr4:82048194..85469787 [NCBI36]
Chr4:4q21.21-21.23
likely pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3
pathogenic
GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1 copy number loss See cases [RCV000140416] Chr4:80043949..86948317 [GRCh38]
Chr4:80965103..87869469 [GRCh37]
Chr4:81184127..88088493 [NCBI36]
Chr4:4q21.21-21.3
pathogenic
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) single nucleotide variant Focal segmental glomerulosclerosis [RCV002294077]|not provided [RCV000515124]|not specified [RCV000203101] Chr4:83284571 [GRCh38]
Chr4:84205724 [GRCh37]
Chr4:4q21.23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1 copy number loss See cases [RCV000143321] Chr4:81675848..83970410 [GRCh38]
Chr4:82597002..84891563 [GRCh37]
Chr4:82816026..85110587 [NCBI36]
Chr4:4q21.22-21.23
likely pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3
pathogenic
NM_015697.8(COQ2):c.*337A>T single nucleotide variant Coenzyme Q10 deficiency, primary [RCV000264486] Chr4:83263862 [GRCh38]
Chr4:84185015 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.34G>C (p.Gly12Arg) single nucleotide variant not provided [RCV000196472] Chr4:83284731 [GRCh38]
Chr4:84205884 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.7(COQ2):c.1157A>C (p.Asn386Thr) single nucleotide variant not provided [RCV000196578] Chr4:83264308 [GRCh38]
Chr4:84185461 [GRCh37]
Chr4:4q21.23
likely pathogenic
NM_001358921.2(COQ2):c.1100A>G (p.Asn367Ser) single nucleotide variant not provided [RCV001853171]|not specified [RCV000200819] Chr4:83264215 [GRCh38]
Chr4:84185368 [GRCh37]
Chr4:4q21.23
likely benign|uncertain significance
NM_015697.7(COQ2):c.86G>C (p.Gly29Ala) single nucleotide variant not specified [RCV000197234] Chr4:83284829 [GRCh38]
Chr4:84205982 [GRCh37]
Chr4:4q21.23
likely benign
NM_015697.9(COQ2):c.16C>A (p.Gln6Lys) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV000656337] Chr4:83284899 [GRCh38]
Chr4:84206052 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.227G>A (p.Arg76His) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002485305]|not provided [RCV000197582] Chr4:83284538 [GRCh38]
Chr4:84205691 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.85T>C (p.Phe29Leu) single nucleotide variant not specified [RCV000198036] Chr4:83284680 [GRCh38]
Chr4:84205833 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.1028T>C (p.Val343Ala) single nucleotide variant not provided [RCV001511041]|not specified [RCV000198921] Chr4:83264287 [GRCh38]
Chr4:84185440 [GRCh37]
Chr4:4q21.23
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001358921.2(COQ2):c.-23C>G single nucleotide variant not provided [RCV001853172]|not specified [RCV000199029] Chr4:83284787 [GRCh38]
Chr4:84205940 [GRCh37]
Chr4:4q21.23
likely benign|uncertain significance
NM_001358921.2(COQ2):c.-2C>G single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002479519]|not provided [RCV001934356] Chr4:83284766 [GRCh38]
Chr4:84205919 [GRCh37]
Chr4:4q21.23
likely benign|uncertain significance
NM_001358921.2(COQ2):c.800C>T (p.Thr267Met) single nucleotide variant not provided [RCV000195593] Chr4:83267737 [GRCh38]
Chr4:84188890 [GRCh37]
Chr4:4q21.23
pathogenic
NM_001358921.2(COQ2):c.137C>T (p.Pro46Leu) single nucleotide variant not provided [RCV000886522]|not specified [RCV000199239] Chr4:83284628 [GRCh38]
Chr4:84205781 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.317T>C (p.Phe106Ser) single nucleotide variant not provided [RCV000200040] Chr4:83279051 [GRCh38]
Chr4:84200204 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.132del (p.Gln44fs) deletion not provided [RCV000200152] Chr4:83284633 [GRCh38]
Chr4:84205786 [GRCh37]
Chr4:4q21.23
pathogenic
NM_001358921.2(COQ2):c.629-1022C>G single nucleotide variant not provided [RCV001515191] Chr4:83271015 [GRCh38]
Chr4:84192168 [GRCh37]
Chr4:4q21.23
benign|drug response
NM_015697.9(COQ2):c.48dup (p.Ala17fs) duplication Focal segmental glomerulosclerosis [RCV002294084]|not provided [RCV000224356] Chr4:83284866..83284867 [GRCh38]
Chr4:84206019..84206020 [GRCh37]
Chr4:4q21.23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002503944]|not provided [RCV000676771]|not specified [RCV000246109] Chr4:83284885 [GRCh38]
Chr4:84206038 [GRCh37]
Chr4:4q21.23
benign|likely benign
NM_001358921.2(COQ2):c.165G>C (p.Gln55His) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002505909]|not provided [RCV002269463] Chr4:83284600 [GRCh38]
Chr4:84205753 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.*257T>C single nucleotide variant Coenzyme Q10 deficiency [RCV000378677] Chr4:83263942 [GRCh38]
Chr4:84185095 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.8(COQ2):c.*151A>G single nucleotide variant Coenzyme Q10 deficiency, primary [RCV000381944] Chr4:83264048 [GRCh38]
Chr4:84185201 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.*53G>A single nucleotide variant not provided [RCV001547500] Chr4:83264146 [GRCh38]
Chr4:84185299 [GRCh37]
Chr4:4q21.23
likely benign|uncertain significance
NM_001358921.2(COQ2):c.*269G>A single nucleotide variant not provided [RCV001562584] Chr4:83263930 [GRCh38]
Chr4:84185083 [GRCh37]
Chr4:4q21.23
likely benign|uncertain significance
NM_001358921.2(COQ2):c.*348dup duplication Coenzyme Q10 deficiency [RCV000356901] Chr4:83263850..83263851 [GRCh38]
Chr4:84185003..84185004 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.8(COQ2):c.*232C>G single nucleotide variant Coenzyme Q10 deficiency, primary [RCV000267965] Chr4:83263967 [GRCh38]
Chr4:84185120 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.8(COQ2):c.*15C>T single nucleotide variant Coenzyme Q10 deficiency, primary [RCV000347069] Chr4:83264184 [GRCh38]
Chr4:84185337 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.808C>T (p.Arg270Trp) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002484883]|not provided [RCV002007709] Chr4:83267729 [GRCh38]
Chr4:84188882 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.8(COQ2):c.*153A>G single nucleotide variant Coenzyme Q10 deficiency, primary [RCV000325353] Chr4:83264046 [GRCh38]
Chr4:84185199 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.868C>T (p.Leu290=) single nucleotide variant not provided [RCV000730523] Chr4:83267669 [GRCh38]
Chr4:84188822 [GRCh37]
Chr4:4q21.23
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001358921.2(COQ2):c.453T>C (p.Ala151=) single nucleotide variant not specified [RCV000437796] Chr4:83273585 [GRCh38]
Chr4:84194738 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.1044C>T (p.Val348=) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002506045]|not provided [RCV000905365] Chr4:83264271 [GRCh38]
Chr4:84185424 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.651G>A (p.Ala217=) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002488875]|not provided [RCV000898990] Chr4:83269971 [GRCh38]
Chr4:84191124 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.254-12A>G single nucleotide variant not specified [RCV000422358] Chr4:83279126 [GRCh38]
Chr4:84200279 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.625T>C (p.Leu209=) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002488874]|not provided [RCV000931819] Chr4:83272090 [GRCh38]
Chr4:84193243 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.1047del (p.Asn351fs) deletion Coenzyme Q10 deficiency [RCV000416389]|Coenzyme Q10 deficiency, primary, 1 [RCV000001502] Chr4:83264268 [GRCh38]
Chr4:84185421 [GRCh37]
Chr4:4q21.23
pathogenic|not provided
NM_001358921.2(COQ2):c.395T>G (p.Met132Arg) single nucleotide variant Coenzyme Q10 deficiency [RCV000416391] Chr4:83278973 [GRCh38]
Chr4:84200126 [GRCh37]
Chr4:4q21.23
pathogenic|not provided
NM_001358921.2(COQ2):c.755C>T (p.Ala252Val) single nucleotide variant Coenzyme Q10 deficiency [RCV000416400] Chr4:83269867 [GRCh38]
Chr4:84191020 [GRCh37]
Chr4:4q21.23
pathogenic|not provided
GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1 copy number loss See cases [RCV000447691] Chr4:82283358..90341831 [GRCh37]
Chr4:4q21.21-22.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q21.22-21.23(chr4:83954528-85807754)x1 copy number loss See cases [RCV000510348] Chr4:83954528..85807754 [GRCh37]
Chr4:4q21.22-21.23
uncertain significance
NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002476014]|not provided [RCV000508587] Chr4:83279058 [GRCh38]
Chr4:84200211 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.585C>G (p.Tyr195Ter) single nucleotide variant not provided [RCV000578697] Chr4:83272130 [GRCh38]
Chr4:84193283 [GRCh37]
Chr4:4q21.23
likely pathogenic
NM_001358921.2(COQ2):c.130C>T (p.Gln44Ter) single nucleotide variant not provided [RCV000578943] Chr4:83284635 [GRCh38]
Chr4:84205788 [GRCh37]
Chr4:4q21.23
likely pathogenic
NM_001358921.2(COQ2):c.704C>G (p.Pro235Arg) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV000625563] Chr4:83269918 [GRCh38]
Chr4:84191071 [GRCh37]
Chr4:4q21.23
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001542536]|not provided [RCV000676767] Chr4:83284595 [GRCh38]
Chr4:84205748 [GRCh37]
Chr4:4q21.23
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001358921.2(COQ2):c.18C>G (p.Ala6=) single nucleotide variant not provided [RCV000676769] Chr4:83284747 [GRCh38]
Chr4:84205900 [GRCh37]
Chr4:4q21.23
likely benign
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1 copy number loss not provided [RCV000682426] Chr4:81314915..96636651 [GRCh37]
Chr4:4q21.21-22.3
pathogenic
NM_001358921.2(COQ2):c.1067AGA[1] (p.Lys357del) microsatellite Coenzyme Q10 deficiency, primary, 1 [RCV000721993]|Coenzyme Q10 deficiency, primary, 1 [RCV002477670] Chr4:83264243..83264245 [GRCh38]
Chr4:84185396..84185398 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.253+4A>T single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001004880] Chr4:83284508 [GRCh38]
Chr4:84205661 [GRCh37]
Chr4:4q21.23
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_001358921.2(COQ2):c.543-41G>A single nucleotide variant not provided [RCV001691477] Chr4:83272213 [GRCh38]
Chr4:84193366 [GRCh37]
Chr4:4q21.23
benign
GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1 copy number loss See cases [RCV000790579] Chr4:80482400..92572499 [GRCh37]
Chr4:4q21.21-22.1
pathogenic
NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002488477]|not provided [RCV001727983]|not specified [RCV001702313] Chr4:83284629 [GRCh38]
Chr4:84205782 [GRCh37]
Chr4:4q21.23
benign|likely benign|uncertain significance
NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV000995527] Chr4:83284545 [GRCh38]
Chr4:84205698 [GRCh37]
Chr4:4q21.23
likely pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228) copy number loss not provided [RCV000767792] Chr4:82043901..88334228 [GRCh37]
Chr4:4q21.21-22.1
pathogenic
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) duplication Coenzyme Q10 deficiency [RCV000778744]|Coenzyme Q10 deficiency, primary, 1 [RCV001535863]|not provided [RCV000930683] Chr4:83284626..83284627 [GRCh38]
Chr4:84205779..84205780 [GRCh37]
Chr4:4q21.23
pathogenic|likely pathogenic|likely benign|uncertain significance
NM_001358921.2(COQ2):c.891T>C (p.Ser297=) single nucleotide variant not provided [RCV000915861] Chr4:83267646 [GRCh38]
Chr4:84188799 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.763-307G>C single nucleotide variant not provided [RCV000832383] Chr4:83268081 [GRCh38]
Chr4:84189234 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.543-247T>C single nucleotide variant not provided [RCV000843724] Chr4:83272419 [GRCh38]
Chr4:84193572 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.762+264T>C single nucleotide variant not provided [RCV000843725] Chr4:83269596 [GRCh38]
Chr4:84190749 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.254-50A>T single nucleotide variant not provided [RCV000833435] Chr4:83279164 [GRCh38]
Chr4:84200317 [GRCh37]
Chr4:4q21.23
likely benign
NM_015697.9(COQ2):c.-90A>G single nucleotide variant not provided [RCV000837252] Chr4:83285004 [GRCh38]
Chr4:84206157 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.762+49A>G single nucleotide variant not provided [RCV000835231] Chr4:83269811 [GRCh38]
Chr4:84190964 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.951+153C>T single nucleotide variant not provided [RCV000830500] Chr4:83267433 [GRCh38]
Chr4:84188586 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.542+320_542+321insTATG insertion not provided [RCV000843719] Chr4:83273175..83273176 [GRCh38]
Chr4:84194328..84194329 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.951+215T>G single nucleotide variant not provided [RCV000843728] Chr4:83267371 [GRCh38]
Chr4:84188524 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.951+217C>T single nucleotide variant not provided [RCV000843729] Chr4:83267369 [GRCh38]
Chr4:84188522 [GRCh37]
Chr4:4q21.23
benign
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23
pathogenic
NM_001358921.2(COQ2):c.-30del deletion not provided [RCV001008832] Chr4:83284794 [GRCh38]
Chr4:84205947 [GRCh37]
Chr4:4q21.23
likely pathogenic
GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1 copy number loss not provided [RCV001005566] Chr4:82593140..85651685 [GRCh37]
Chr4:4q21.22-21.23
pathogenic
GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1 copy number loss not provided [RCV000846933] Chr4:78769297..84968832 [GRCh37]
Chr4:4q21.1-21.23
pathogenic
NM_001358921.2(COQ2):c.-20del deletion not provided [RCV001574033] Chr4:83284784 [GRCh38]
Chr4:84205937 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.9(COQ2):c.115A>T (p.Thr39Ser) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001542537]|not provided [RCV001882611] Chr4:83284800 [GRCh38]
Chr4:84205953 [GRCh37]
Chr4:4q21.23
likely pathogenic|uncertain significance
NM_001358921.2(COQ2):c.254-220_254-219dup duplication not provided [RCV001655508] Chr4:83279332..83279333 [GRCh38]
Chr4:84200485..84200486 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.762+35T>C single nucleotide variant not provided [RCV001608488] Chr4:83269825 [GRCh38]
Chr4:84190978 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.763-92_763-91dup duplication not provided [RCV001598563] Chr4:83267859..83267860 [GRCh38]
Chr4:84189012..84189013 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001570181] Chr4:83284764 [GRCh38]
Chr4:84205917 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.253+203G>A single nucleotide variant not provided [RCV001552562] Chr4:83284309 [GRCh38]
Chr4:84205462 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.542+335T>C single nucleotide variant not provided [RCV001559497] Chr4:83273161 [GRCh38]
Chr4:84194314 [GRCh37]
Chr4:4q21.23
likely benign
GRCh37/hg19 4q21.23(chr4:84142481-84840424)x3 copy number gain not provided [RCV002473659] Chr4:84142481..84840424 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.508G>A (p.Ala170Thr) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001030009] Chr4:83273530 [GRCh38]
Chr4:84194683 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.9(COQ2):c.-131A>G single nucleotide variant not provided [RCV001581922] Chr4:83285045 [GRCh38]
Chr4:84206198 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.763-92dup duplication not provided [RCV001688980] Chr4:83267859..83267860 [GRCh38]
Chr4:84189012..84189013 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.763-75G>C single nucleotide variant not provided [RCV001686323] Chr4:83267849 [GRCh38]
Chr4:84189002 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.421-135T>C single nucleotide variant not provided [RCV001586907] Chr4:83273752 [GRCh38]
Chr4:84194905 [GRCh37]
Chr4:4q21.23
likely benign
NM_015697.9(COQ2):c.85G>T (p.Gly29Cys) single nucleotide variant not provided [RCV001638295] Chr4:83284830 [GRCh38]
Chr4:84205983 [GRCh37]
Chr4:4q21.23
benign
GRCh37/hg19 4q21.22-21.23(chr4:84053945-85081980)x3 copy number gain See cases [RCV001194563] Chr4:84053945..85081980 [GRCh37]
Chr4:4q21.22-21.23
uncertain significance
Single allele deletion Chromosome 4q21 deletion syndrome [RCV001172266] Chr4:83196931..85540706 [GRCh37]
Chr4:4q21.22-21.23
pathogenic
NM_001358921.2(COQ2):c.254-186_254-183del microsatellite not provided [RCV001650082] Chr4:83279297..83279300 [GRCh38]
Chr4:84200450..84200453 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.628+277G>C single nucleotide variant not provided [RCV001691193] Chr4:83271810 [GRCh38]
Chr4:84192963 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.542+285G>A single nucleotide variant not provided [RCV001566190] Chr4:83273211 [GRCh38]
Chr4:84194364 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.253+43del deletion not provided [RCV001574866] Chr4:83284469 [GRCh38]
Chr4:84205622 [GRCh37]
Chr4:4q21.23
likely benign
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3
pathogenic
NM_001358921.2(COQ2):c.246G>A (p.Lys82=) single nucleotide variant not provided [RCV001312042] Chr4:83284519 [GRCh38]
Chr4:84205672 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001333879]|Coenzyme Q10 deficiency, primary, 1 [RCV002493730] Chr4:83267648 [GRCh38]
Chr4:84188801 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.663G>A (p.Trp221Ter) single nucleotide variant Multiple system atrophy [RCV001333884] Chr4:83269959 [GRCh38]
Chr4:84191112 [GRCh37]
Chr4:4q21.23
pathogenic
NM_001358921.2(COQ2):c.967del (p.Ile323fs) deletion Coenzyme Q10 deficiency, primary 1 [RCV001333881] Chr4:83264348 [GRCh38]
Chr4:84185501 [GRCh37]
Chr4:4q21.23
pathogenic
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001333880]|Coenzyme Q10 deficiency, primary, 1 [RCV002499655]|not provided [RCV001871853] Chr4:83267612 [GRCh38]
Chr4:84188765 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.9(COQ2):c.97C>T (p.His33Tyr) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001328922] Chr4:83284818 [GRCh38]
Chr4:84205971 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.44C>G (p.Ala15Gly) single nucleotide variant not provided [RCV001354746] Chr4:83284721 [GRCh38]
Chr4:84205874 [GRCh37]
Chr4:4q21.23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001358921.2(COQ2):c.762+112A>G single nucleotide variant not provided [RCV001616793] Chr4:83269748 [GRCh38]
Chr4:84190901 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.254-97T>C single nucleotide variant not provided [RCV001590694] Chr4:83279211 [GRCh38]
Chr4:84200364 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.253+47T>G single nucleotide variant not provided [RCV001717118] Chr4:83284465 [GRCh38]
Chr4:84205618 [GRCh37]
Chr4:4q21.23
benign
NM_001358921.2(COQ2):c.57G>A (p.Ala19=) single nucleotide variant not provided [RCV001503571] Chr4:83284708 [GRCh38]
Chr4:84205861 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.809G>A (p.Arg270Gln) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002502054]|not provided [RCV002244468] Chr4:83267728 [GRCh38]
Chr4:84188881 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.9(COQ2):c.103T>G (p.Cys35Gly) single nucleotide variant Multiple system atrophy [RCV001771729] Chr4:83284812 [GRCh38]
Chr4:84205965 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.762+1G>T single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001780862] Chr4:83269859 [GRCh38]
Chr4:84191012 [GRCh37]
Chr4:4q21.23
likely pathogenic
NM_001358921.2(COQ2):c.420+2T>A single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001780861] Chr4:83278946 [GRCh38]
Chr4:84200099 [GRCh37]
Chr4:4q21.23
likely pathogenic
NM_001358921.2(COQ2):c.676G>T (p.Gly226Cys) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002506934]|not provided [RCV001875007] Chr4:83269946 [GRCh38]
Chr4:84191099 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.368G>A (p.Arg123His) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002506861]|not provided [RCV001837084] Chr4:83279000 [GRCh38]
Chr4:84200153 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.1038G>T (p.Gly346=) single nucleotide variant not provided [RCV001930137] Chr4:83264277 [GRCh38]
Chr4:84185430 [GRCh37]
Chr4:4q21.23
uncertain significance
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
NM_001358921.2(COQ2):c.182C>T (p.Ala61Val) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002486528]|not provided [RCV002008332] Chr4:83284583 [GRCh38]
Chr4:84205736 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.89C>T (p.Ala30Val) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002498044]|not provided [RCV002043124] Chr4:83284676 [GRCh38]
Chr4:84205829 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.9(COQ2):c.83C>A (p.Ala28Glu) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002503400]|not provided [RCV001864084] Chr4:83284832 [GRCh38]
Chr4:84205985 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001333883] Chr4:83273547 [GRCh38]
Chr4:84194700 [GRCh37]
Chr4:4q21.23
uncertain significance
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156) copy number gain not specified [RCV002053429] Chr4:75737340..91131156 [GRCh37]
Chr4:4q13.3-22.1
pathogenic
NM_001358921.2(COQ2):c.188T>C (p.Val63Ala) single nucleotide variant not provided [RCV001889578] Chr4:83284577 [GRCh38]
Chr4:84205730 [GRCh37]
Chr4:4q21.23
uncertain significance
GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225) copy number loss not specified [RCV002053432] Chr4:79780152..94873225 [GRCh37]
Chr4:4q21.21-22.2
pathogenic
NM_001358921.2(COQ2):c.451G>A (p.Ala151Thr) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002497855]|not provided [RCV002004606] Chr4:83273587 [GRCh38]
Chr4:84194740 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.26dup (p.Ala10fs) duplication Nephrotic syndrome [RCV001849671] Chr4:83284738..83284739 [GRCh38]
Chr4:84205891..84205892 [GRCh37]
Chr4:4q21.23
likely pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421) copy number loss not specified [RCV002053435] Chr4:81054789..90667421 [GRCh37]
Chr4:4q21.21-22.1
pathogenic
NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002507798]|not provided [RCV002043355] Chr4:83284754 [GRCh38]
Chr4:84205907 [GRCh37]
Chr4:4q21.23
uncertain significance
GRCh37/hg19 4q21.23(chr4:84134525-84984297) copy number loss not specified [RCV002053438] Chr4:84134525..84984297 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.254-5C>G single nucleotide variant not provided [RCV001910413] Chr4:83279119 [GRCh38]
Chr4:84200272 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.962T>A (p.Leu321Gln) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV001824233] Chr4:83264353 [GRCh38]
Chr4:84185506 [GRCh37]
Chr4:4q21.23
likely pathogenic
NM_001358921.2(COQ2):c.542G>T (p.Ser181Ile) single nucleotide variant not provided [RCV001943985] Chr4:83273496 [GRCh38]
Chr4:84194649 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.133C>T (p.Pro45Ser) single nucleotide variant not provided [RCV001886389] Chr4:83284632 [GRCh38]
Chr4:84205785 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.17C>T (p.Ala6Val) single nucleotide variant not provided [RCV001888230] Chr4:83284748 [GRCh38]
Chr4:84205901 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.-17C>T single nucleotide variant not provided [RCV001961869] Chr4:83284781 [GRCh38]
Chr4:84205934 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.284G>A (p.Trp95Ter) single nucleotide variant not provided [RCV001941569] Chr4:83279084 [GRCh38]
Chr4:84200237 [GRCh37]
Chr4:4q21.23
pathogenic
NM_015697.9(COQ2):c.34G>A (p.Gly12Ser) single nucleotide variant not provided [RCV001901024] Chr4:83284881 [GRCh38]
Chr4:84206034 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.9(COQ2):c.65G>A (p.Arg22Lys) single nucleotide variant not provided [RCV001987428] Chr4:83284850 [GRCh38]
Chr4:84206003 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.9(COQ2):c.57G>T (p.Gln19His) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002489979]|not provided [RCV001903950] Chr4:83284858 [GRCh38]
Chr4:84206011 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.1007A>G (p.Asn336Ser) single nucleotide variant not provided [RCV001867678] Chr4:83264308 [GRCh38]
Chr4:84185461 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.830C>T (p.Pro277Leu) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002482674]|not provided [RCV001881390] Chr4:83267707 [GRCh38]
Chr4:84188860 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.86T>G (p.Phe29Cys) single nucleotide variant not provided [RCV002017075] Chr4:83284679 [GRCh38]
Chr4:84205832 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.1012A>G (p.Thr338Ala) single nucleotide variant not provided [RCV001977243] Chr4:83264303 [GRCh38]
Chr4:84185456 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.730A>T (p.Thr244Ser) single nucleotide variant not provided [RCV002018735] Chr4:83269892 [GRCh38]
Chr4:84191045 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.20C>T (p.Ala7Val) single nucleotide variant not provided [RCV001925747] Chr4:83284745 [GRCh38]
Chr4:84205898 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_015697.9(COQ2):c.61G>A (p.Gly21Ser) single nucleotide variant not provided [RCV001944579] Chr4:83284854 [GRCh38]
Chr4:84206007 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.917C>T (p.Ala306Val) single nucleotide variant not provided [RCV001979312] Chr4:83267620 [GRCh38]
Chr4:84188773 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.813C>T (p.Phe271=) single nucleotide variant not provided [RCV002105299] Chr4:83267724 [GRCh38]
Chr4:84188877 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.339C>G (p.Ser113=) single nucleotide variant not provided [RCV002090709] Chr4:83279029 [GRCh38]
Chr4:84200182 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.831G>A (p.Pro277=) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002507995]|not provided [RCV002109831] Chr4:83267706 [GRCh38]
Chr4:84188859 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.918C>A (p.Ala306=) single nucleotide variant not provided [RCV002110215] Chr4:83267619 [GRCh38]
Chr4:84188772 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.798A>C (p.Ser266=) single nucleotide variant not provided [RCV002074902] Chr4:83267739 [GRCh38]
Chr4:84188892 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.723T>C (p.Val241=) single nucleotide variant not provided [RCV002110792] Chr4:83269899 [GRCh38]
Chr4:84191052 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.543-12T>C single nucleotide variant not provided [RCV002166355] Chr4:83272184 [GRCh38]
Chr4:84193337 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.885G>A (p.Val295=) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002507991]|not provided [RCV002115536] Chr4:83267652 [GRCh38]
Chr4:84188805 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.966C>T (p.Asp322=) single nucleotide variant not provided [RCV002090936] Chr4:83264349 [GRCh38]
Chr4:84185502 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.542+12G>A single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002505798]|not provided [RCV002153176] Chr4:83273484 [GRCh38]
Chr4:84194637 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.912C>T (p.Tyr304=) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002494502]|not provided [RCV002175695] Chr4:83267625 [GRCh38]
Chr4:84188778 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.629-19T>C single nucleotide variant not provided [RCV002084035] Chr4:83270012 [GRCh38]
Chr4:84191165 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.238T>C (p.Leu80=) single nucleotide variant not provided [RCV002141914] Chr4:83284527 [GRCh38]
Chr4:84205680 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.222C>T (p.Tyr74=) single nucleotide variant not provided [RCV002163391] Chr4:83284543 [GRCh38]
Chr4:84205696 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.629-11G>T single nucleotide variant not provided [RCV002142340] Chr4:83270004 [GRCh38]
Chr4:84191157 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.336C>G (p.Leu112=) single nucleotide variant not provided [RCV002216600] Chr4:83279032 [GRCh38]
Chr4:84200185 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.628+9_628+10insAA insertion not provided [RCV002156011] Chr4:83272077..83272078 [GRCh38]
Chr4:84193230..84193231 [GRCh37]
Chr4:4q21.23
likely benign
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002505910]|not provided [RCV002269778] Chr4:83284694 [GRCh38]
Chr4:84205847 [GRCh37]
Chr4:4q21.23
likely pathogenic
NM_015697.9(COQ2):c.34G>C (p.Gly12Arg) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002502082]|not provided [RCV002265138] Chr4:83284881 [GRCh38]
Chr4:84206034 [GRCh37]
Chr4:4q21.23
uncertain significance
GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1 copy number loss not provided [RCV001829208] Chr4:80467886..93362064 [GRCh37]
Chr4:4q21.21-22.1
pathogenic
NM_015697.9(COQ2):c.94G>A (p.Ala32Thr) single nucleotide variant Coenzyme Q10 deficiency, primary, 1 [RCV002482643]|not provided [RCV001897275] Chr4:83284821 [GRCh38]
Chr4:84205974 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.541A>C (p.Ser181Arg) single nucleotide variant not provided [RCV001917364] Chr4:83273497 [GRCh38]
Chr4:84194650 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.171T>C (p.Ser57=) single nucleotide variant not provided [RCV002076989] Chr4:83284594 [GRCh38]
Chr4:84205747 [GRCh37]
Chr4:4q21.23
likely benign
GRCh37/hg19 4q21.22-21.23(chr4:84048377-84744105)x1 copy number loss See cases [RCV002287566] Chr4:84048377..84744105 [GRCh37]
Chr4:4q21.22-21.23
pathogenic
NM_001358921.2(COQ2):c.739T>C (p.Tyr247His) single nucleotide variant Kidney disease [RCV002294609] Chr4:83269883 [GRCh38]
Chr4:84191036 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.951+8C>G single nucleotide variant Kidney disease [RCV002294678] Chr4:83267578 [GRCh38]
Chr4:84188731 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.706C>T (p.Leu236Phe) single nucleotide variant not provided [RCV002505961] Chr4:83269916 [GRCh38]
Chr4:84191069 [GRCh37]
uncertain significance
NM_001358921.2(COQ2):c.1109A>G (p.Glu370Gly) single nucleotide variant not provided [RCV002304753] Chr4:83264206 [GRCh38]
Chr4:84185359 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.744T>A (p.Asp248Glu) single nucleotide variant not provided [RCV002304908] Chr4:83269878 [GRCh38]
Chr4:84191031 [GRCh37]
Chr4:4q21.23
uncertain significance
NM_001358921.2(COQ2):c.731C>T (p.Thr244Ile) single nucleotide variant not provided [RCV002505962] Chr4:83269891 [GRCh38]
Chr4:84191044 [GRCh37]
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR99Ahsa-miR-99a-5pTarbaseexternal_infoSequencingPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:1016
Count of miRNA genes:525
Interacting mature miRNAs:569
Transcripts:ENST00000311461, ENST00000311469, ENST00000439031, ENST00000503391, ENST00000503915, ENST00000514935
Prediction methods:Microtar, 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.

Markers in Region
STS-N34312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37484,185,048 - 84,185,179UniSTSGRCh37
Build 36484,404,072 - 84,404,203RGDNCBI36
Celera481,475,494 - 81,475,625RGD
Cytogenetic Map4q21.23UniSTS
HuRef479,928,047 - 79,928,178UniSTS
TNG Radiation Hybrid Map449938.0UniSTS
GeneMap99-GB4 RH Map4444.68UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 241 147 376 86 713 73 1111 366 146 135 409 403 26 1 20 643 3 2
Low 2198 2825 1349 537 1232 391 3246 1817 3554 283 1051 1210 148 1184 2145 3
Below cutoff 19 1 1 5 1 14 34 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA825250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ621061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC116454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG699931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM126596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ363759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU877220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311461   ⟹   ENSP00000311835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl483,266,697 - 83,284,765 (-)Ensembl
RefSeq Acc Id: ENST00000311469   ⟹   ENSP00000310873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl483,263,826 - 83,284,914 (-)Ensembl
RefSeq Acc Id: ENST00000503391   ⟹   ENSP00000426242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl483,261,536 - 83,284,795 (-)Ensembl
RefSeq Acc Id: ENST00000503915   ⟹   ENSP00000427146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl483,263,824 - 83,279,058 (-)Ensembl
RefSeq Acc Id: ENST00000514935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl483,273,543 - 83,281,596 (-)Ensembl
RefSeq Acc Id: ENST00000647002   ⟹   ENSP00000495761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl483,263,824 - 83,284,798 (-)Ensembl
RefSeq Acc Id: NM_001358921   ⟹   NP_001345850
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38483,263,824 - 83,284,798 (-)NCBI
T2T-CHM13v2.0486,593,916 - 86,614,894 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015697   ⟹   NP_056512
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38483,263,824 - 83,285,134 (-)NCBI
GRCh37484,184,972 - 84,206,067 (-)NCBI
Build 36484,404,001 - 84,424,988 (-)NCBI Archive
HuRef479,927,976 - 79,949,127 (-)ENTREZGENE
CHM1_1484,161,731 - 84,182,795 (-)NCBI
T2T-CHM13v2.0486,593,916 - 86,615,230 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056512   ⟸   NM_015697
- Peptide Label: isoform 1
- UniProtKB: Q96H96 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001345850   ⟸   NM_001358921
- Peptide Label: isoform 2
- UniProtKB: Q684R2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000426242   ⟸   ENST00000503391
RefSeq Acc Id: ENSP00000427146   ⟸   ENST00000503915
RefSeq Acc Id: ENSP00000310873   ⟸   ENST00000311469
RefSeq Acc Id: ENSP00000311835   ⟸   ENST00000311461
RefSeq Acc Id: ENSP00000495761   ⟸   ENST00000647002

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96H96-F1-model_v2 AlphaFold Q96H96 1-371 view protein structure

Promoters
RGD ID:6867884
Promoter ID:EPDNEW_H7107
Type:multiple initiation site
Name:COQ2_1
Description:coenzyme Q2, polyprenyltransferase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38483,285,134 - 83,285,194EPDNEW
RGD ID:6802133
Promoter ID:HG_KWN:48628
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003HOG.1,   UC003HOH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36484,424,679 - 84,425,179 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25223 AgrOrtholog
COSMIC COQ2 COSMIC
Ensembl Genes ENSG00000173085 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000310873 ENTREZGENE
  ENSP00000310873.4 UniProtKB/Swiss-Prot
  ENSP00000311835.7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSP00000426242.1 UniProtKB/TrEMBL
  ENSP00000427146.1 UniProtKB/TrEMBL
  ENSP00000495761 ENTREZGENE
  ENSP00000495761.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000311461.7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENST00000311469 ENTREZGENE
  ENST00000311469.9 UniProtKB/Swiss-Prot
  ENST00000503391.5 UniProtKB/TrEMBL
  ENST00000503915.5 UniProtKB/TrEMBL
  ENST00000647002 ENTREZGENE
  ENST00000647002.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.357.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173085 GTEx
HGNC ID HGNC:25223 ENTREZGENE
Human Proteome Map COQ2 Human Proteome Map
InterPro HB_polyprenyltransferase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prenyltransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UbiA_prenyltransferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UbiA_prenylTrfase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UbiA_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 27235 ENTREZGENE
OMIM 146500 OMIM
  607426 OMIM
  609825 OMIM
PANTHER PTHR11048 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam UbiA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672084 PharmGKB
PROSITE UBIA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs ubiA_proteo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt COQ2_HUMAN UniProtKB/Swiss-Prot
  E2QRG7_HUMAN UniProtKB/TrEMBL
  E7EPM7_HUMAN UniProtKB/TrEMBL
  H0YAI0_HUMAN UniProtKB/TrEMBL
  Q684R2 ENTREZGENE
  Q96H96 ENTREZGENE
UniProt Secondary A0A1D8H0A6 UniProtKB/Swiss-Prot
  O95331 UniProtKB/Swiss-Prot
  Q1JQ78 UniProtKB/Swiss-Prot
  Q684R2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 COQ2  coenzyme Q2, polyprenyltransferase    coenzyme Q2 4-hydroxybenzoate polyprenyltransferase  Symbol and/or name change 5135510 APPROVED
2013-06-04 COQ2  coenzyme Q2 4-hydroxybenzoate polyprenyltransferase    coenzyme Q2 homolog, prenyltransferase (yeast)  Symbol and/or name change 5135510 APPROVED