NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4) - Rat Genome Database

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Gene: NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4) Homo sapiens
Analyze
Symbol: NDUFS4
Name: NADH:ubiquinone oxidoreductase subunit S4
RGD ID: 1342584
HGNC Page HGNC:7711
Description: Contributes to NADH dehydrogenase (ubiquinone) activity. Involved in several processes, including mitochondrial respiratory chain complex I assembly; positive regulation of fibroblast proliferation; and response to cAMP. Acts upstream of or within regulation of protein phosphorylation. Located in mitochondrial inner membrane. Implicated in Leigh disease and nuclear type mitochondrial complex I deficiency 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AQDQ; CI-18; CI-18 kDa; CI-AQDQ; complex I 18kDa subunit; complex I-18 kDa; complex I-AQDQ; MC1DN1; mitochondrial respiratory chain complex I (18-KD subunit); NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase); NADH dehydrogenase (ubiquinone) iron-sulfur protein 4; NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial; NADH dehydrogenase Fe-S protein 4 18kDa (NADH-coenzyme Q reductase) isoform 1; NADH dehydrogenase Fe-S protein 4 18kDa (NADH-coenzyme Q reductase) isoform 2; NADH-coenzyme Q reductase, 18-KD; NADH-ubiquinone oxidoreductase 18 kDa subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38553,560,639 - 53,683,338 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl553,560,633 - 53,683,338 (+)EnsemblGRCh38hg38GRCh38
GRCh37552,856,469 - 52,979,168 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36552,892,242 - 53,014,925 (+)NCBINCBI36Build 36hg18NCBI36
Build 34552,892,241 - 53,014,924NCBI
Celera549,810,070 - 49,932,765 (+)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef549,829,192 - 49,951,782 (+)NCBIHuRef
CHM1_1552,859,382 - 52,982,064 (+)NCBICHM1_1
T2T-CHM13v2.0554,388,486 - 54,511,162 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(S)-colchicine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-nitropyrene  (EXP,ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-methyladenine  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acetylsalicylic acid  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP,ISO)
amitrole  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
casticin  (ISO)
chloropicrin  (EXP)
choline  (ISO)
cisplatin  (ISO)
copper(II) chloride  (ISO)
corosolic acid  (EXP)
deoxynivalenol  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dopamine  (ISO)
doxorubicin  (EXP,ISO)
edaravone  (ISO)
elemental selenium  (EXP)
enniatin  (ISO)
ethanol  (EXP,ISO)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
genistein  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
isoniazide  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
monosodium L-glutamate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
NAD zwitterion  (ISO)
NAD(+)  (ISO)
Nutlin-3  (EXP)
ozone  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP)
paraquat  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
pyrroloquinoline quinone  (EXP,ISO)
reactive oxygen species  (ISO)
resveratrol  (ISO)
rotenone  (EXP,ISO)
sarin  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
T-2 toxin  (ISO)
taurine  (EXP,ISO)
tetrachloromethane  (ISO)
tolcapone  (ISO)
toluene  (ISO)
Triptolide  (ISO)
tungsten  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
3-hydroxydicarboxylic aciduria  (IAGP)
Abnormal brain morphology  (IAGP)
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormal muscle tone  (IAGP)
Acute necrotizing encephalopathy  (IAGP)
Apnea  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral edema  (IAGP)
Coma  (IAGP)
Concentric hypertrophic cardiomyopathy  (IAGP)
Cyanosis  (IAGP)
Death in infancy  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Decreased activity of mitochondrial complex III  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Drowsiness  (IAGP)
Dyskinesia  (IAGP)
Elevated lactate:pyruvate ratio  (IAGP)
Encephalopathy  (IAGP)
Exercise intolerance  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fetal distress  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Focal T2 hyperintense brainstem lesion  (IAGP)
Focal T2 hypointense basal ganglia lesion  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hepatic failure  (IAGP)
Hepatomegaly  (IAGP)
Hyperalaninemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoglycemia  (IAGP)
Hyporeflexia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased circulating lactate concentration  (IAGP)
Increased CSF lactate  (IAGP)
Increased CSF protein concentration  (IAGP)
Increased intramyocellular lipid droplets  (IAGP)
Increased serum pyruvate  (IAGP)
Infantile encephalopathy  (IAGP)
Infantile onset  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Lactic acidosis  (IAGP)
Lacticaciduria  (IAGP)
Lethargy  (IAGP)
Leukodystrophy  (IAGP)
Leukoencephalopathy  (IAGP)
Microcephaly  (IAGP)
Mitochondrial inheritance  (IAGP)
Mitochondrial myopathy  (IAGP)
Muscle weakness  (IAGP)
Nystagmus  (IAGP)
Optic disc pallor  (IAGP)
Optic neuropathy  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Poor head control  (IAGP)
Progressive macrocephaly  (IAGP)
Proximal tubulopathy  (IAGP)
Ptosis  (IAGP)
Ragged-red muscle fibers  (IAGP)
Reduced eye contact  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe lactic acidosis  (IAGP)
Short chin  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Tongue fasciculations  (IAGP)
Undetectable visual evoked potentials  (IAGP)
Upslanted palpebral fissure  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. Anderson SL, etal., J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S461-7. Epub 2008 Dec 26.
2. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. Benit P, etal., Hum Genet. 2003 May;112(5-6):563-6. Epub 2003 Mar 4.
3. Loss of mitochondrial complex I activity potentiates dopamine neuron death induced by microtubule dysfunction in a Parkinson's disease model. Choi WS, etal., J Cell Biol. 2011 Mar 7;192(5):873-82.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. Kruse SE, etal., Cell Metab. 2008 Apr;7(4):312-20.
6. Proteomic and Metabolomic Analyses of Mitochondrial Complex I-deficient Mouse Model Generated by Spontaneous B2 Short Interspersed Nuclear Element (SINE) Insertion into NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (Ndufs4) Gene. Leong DW, etal., J Biol Chem. 2012 Jun 8;287(24):20652-63. Epub 2012 Apr 25.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. Fatal breathing dysfunction in a mouse model of Leigh syndrome. Quintana A, etal., J Clin Invest. 2012 Jul;122(7):2359-68. doi: 10.1172/JCI62923. Epub 2012 Jun 1.
10. Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome. Quintana A, etal., Proc Natl Acad Sci U S A. 2010 Jun 15;107(24):10996-1001. doi: 10.1073/pnas.1006214107. Epub 2010 Jun 1.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
14. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1900194   PMID:9463323   PMID:9763677   PMID:9878551   PMID:10944442   PMID:11112787   PMID:11165261   PMID:11181577   PMID:11860175   PMID:11940698   PMID:12084824   PMID:12206907  
PMID:12477932   PMID:12611891   PMID:12944388   PMID:14749350   PMID:14765537   PMID:15038602   PMID:15489334   PMID:15975579   PMID:16094384   PMID:16344560   PMID:16478720   PMID:16870178  
PMID:17207965   PMID:17438127   PMID:17601350   PMID:18029348   PMID:18291624   PMID:18555024   PMID:18977241   PMID:19064571   PMID:19343046   PMID:19364667   PMID:20877624   PMID:21832049  
PMID:21873635   PMID:21945319   PMID:21988832   PMID:22198267   PMID:22407105   PMID:22939629   PMID:23378164   PMID:24020637   PMID:24244333   PMID:24344204   PMID:24927181   PMID:26186194  
PMID:26344197   PMID:26425749   PMID:26496610   PMID:26871637   PMID:27079373   PMID:27499296   PMID:27626371   PMID:27671926   PMID:27684187   PMID:28380382   PMID:28514442   PMID:28844695  
PMID:29395067   PMID:29568061   PMID:30030361   PMID:31056398   PMID:31073040   PMID:31091453   PMID:31206022   PMID:31527615   PMID:31536960   PMID:31617661   PMID:31871319   PMID:32335026  
PMID:32393512   PMID:32457219   PMID:32628020   PMID:32877691   PMID:33093004   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34849584   PMID:35944360   PMID:37071682   PMID:37616343  
PMID:38266647  


Genomics

Comparative Map Data
NDUFS4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38553,560,639 - 53,683,338 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl553,560,633 - 53,683,338 (+)EnsemblGRCh38hg38GRCh38
GRCh37552,856,469 - 52,979,168 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36552,892,242 - 53,014,925 (+)NCBINCBI36Build 36hg18NCBI36
Build 34552,892,241 - 53,014,924NCBI
Celera549,810,070 - 49,932,765 (+)NCBICelera
Cytogenetic Map5q11.2NCBI
HuRef549,829,192 - 49,951,782 (+)NCBIHuRef
CHM1_1552,859,382 - 52,982,064 (+)NCBICHM1_1
T2T-CHM13v2.0554,388,486 - 54,511,162 (+)NCBIT2T-CHM13v2.0
Ndufs4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3913114,424,331 - 114,524,630 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl13114,424,331 - 114,524,794 (-)EnsemblGRCm39 Ensembl
GRCm3813114,287,795 - 114,388,094 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl13114,287,795 - 114,388,258 (-)EnsemblGRCm38mm10GRCm38
MGSCv3713115,078,003 - 115,178,302 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3613115,409,528 - 115,508,921 (-)NCBIMGSCv36mm8
Celera13118,620,039 - 118,721,271 (-)NCBICelera
Cytogenetic Map13D2.2NCBI
cM Map1364.12NCBI
Ndufs4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8247,684,420 - 47,794,914 (-)NCBIGRCr8
mRatBN7.2245,951,327 - 46,061,829 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl245,951,313 - 46,061,846 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx253,055,093 - 53,165,153 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0251,113,456 - 51,223,515 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0245,988,050 - 46,102,968 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0246,372,488 - 46,476,162 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl246,372,518 - 46,476,203 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0265,403,197 - 65,515,243 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4245,839,236 - 46,479,619 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera241,712,356 - 41,822,320 (-)NCBICelera
Cytogenetic Map2q14NCBI
Ndufs4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544613,764,907 - 13,864,824 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544613,764,907 - 13,864,824 (-)NCBIChiLan1.0ChiLan1.0
NDUFS4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2460,256,021 - 60,378,662 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1558,409,645 - 58,532,287 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0560,344,363 - 60,467,008 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1561,966,124 - 62,088,388 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl561,966,124 - 62,088,375 (-)Ensemblpanpan1.1panPan2
NDUFS4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1461,613,580 - 61,727,219 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl461,613,589 - 61,727,205 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha461,379,036 - 61,492,669 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0462,107,235 - 62,231,743 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1461,884,352 - 61,997,681 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0462,012,344 - 62,126,203 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0462,529,496 - 62,643,162 (-)NCBIUU_Cfam_GSD_1.0
Ndufs4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213204,892,598 - 204,995,733 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648013,827,743 - 13,932,238 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648013,829,093 - 13,932,202 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFS4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1632,874,450 - 32,987,828 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11632,874,418 - 32,985,638 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21634,963,225 - 34,992,577 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFS4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1449,851,012 - 49,967,533 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl449,851,014 - 49,967,590 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660821,152,990 - 1,272,340 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ndufs4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247595,630,522 - 5,733,928 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NDUFS4
160 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) deletion Inborn genetic diseases [RCV002513319]|Leigh syndrome [RCV000586784]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000133549]|not provided [RCV000197700] Chr5:53683152 [GRCh38]
Chr5:52978982 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) duplication Leigh syndrome [RCV001269113]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000007290]|not provided [RCV002508185] Chr5:53683157..53683158 [GRCh38]
Chr5:52978987..52978988 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) deletion Leigh syndrome [RCV002307358]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000007291]|not provided [RCV000484109] Chr5:53646345 [GRCh38]
Chr5:52942175 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) single nucleotide variant Leigh syndrome [RCV002307359]|Mitochondrial complex I deficiency [RCV000578296]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000735424]|not provided [RCV002298437] Chr5:53646371 [GRCh38]
Chr5:52942201 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV000007293] Chr5:53560706 [GRCh38]
Chr5:52856536 [GRCh37]
Chr5:5q11.2		 pathogenic
NDUFS4, IVS1AS, G-A, -1 single nucleotide variant Leigh syndrome due to mitochondrial complex I deficiency [RCV000007294] Chr5:5q11.1 pathogenic
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 copy number loss See cases [RCV000050797] Chr5:50288355..63149770 [GRCh38]
Chr5:49584189..62445597 [GRCh37]
Chr5:49619946..62481353 [NCBI36]
Chr5:5q11.1-12.1		 pathogenic
GRCh38/hg38 5q11.1-11.2(chr5:50288355-56717370)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051838]|See cases [RCV000051838] Chr5:50288355..56717370 [GRCh38]
Chr5:49584189..56013197 [GRCh37]
Chr5:49619946..56048954 [NCBI36]
Chr5:5q11.1-11.2		 pathogenic
GRCh38/hg38 5q11.2(chr5:53332485-57152396)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053283]|See cases [RCV000053283] Chr5:53332485..57152396 [GRCh38]
Chr5:52628315..56448223 [GRCh37]
Chr5:52664072..56483980 [NCBI36]
Chr5:5q11.2		 uncertain significance
GRCh38/hg38 5q11.1-11.2(chr5:50462100-55862985)x1 copy number loss See cases [RCV000053451] Chr5:50462100..55862985 [GRCh38]
Chr5:49757934..55158813 [GRCh37]
Chr5:49793691..55194570 [NCBI36]
Chr5:5q11.1-11.2		 pathogenic
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) single nucleotide variant Leigh syndrome [RCV000326276]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000387876]|not provided [RCV000676473]|not specified [RCV000117713] Chr5:53560674 [GRCh38]
Chr5:52856504 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) single nucleotide variant Leigh syndrome [RCV000342200]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000280222]|not provided [RCV000676474]|not specified [RCV000117714] Chr5:53646253 [GRCh38]
Chr5:52942083 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) single nucleotide variant Leigh syndrome [RCV000302455]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000398452]|not provided [RCV000676475]|not specified [RCV000117715] Chr5:53646367 [GRCh38]
Chr5:52942197 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) single nucleotide variant Leigh syndrome [RCV000386502]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000280441]|not provided [RCV000905987]|not specified [RCV000127157] Chr5:53603455 [GRCh38]
Chr5:52899285 [GRCh37]
Chr5:5q11.2		 benign|uncertain significance
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p12-q11.2(chr5:45566861-56506493)x3 copy number gain See cases [RCV000138021] Chr5:45566861..56506493 [GRCh38]
Chr5:45566963..55802320 [GRCh37]
Chr5:45602720..55838077 [NCBI36]
Chr5:5p12-q11.2		 uncertain significance
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) single nucleotide variant Leigh syndrome [RCV001154575]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001154576]|not provided [RCV000960853]|not specified [RCV000335188] Chr5:53560672 [GRCh38]
Chr5:52856502 [GRCh37]
Chr5:5q11.2		 benign|likely benign|uncertain significance
NM_002495.4(NDUFS4):c.406T>G (p.Ser136Ala) single nucleotide variant not provided [RCV001705127] Chr5:53658606 [GRCh38]
Chr5:52954436 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_002495.4(NDUFS4):c.469T>A (p.Ser157Thr) single nucleotide variant Inborn genetic diseases [RCV002517242]|Mitochondrial complex I deficiency, nuclear type 1 [RCV003988837]|not provided [RCV000998390] Chr5:53683162 [GRCh38]
Chr5:52978992 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_002495.4(NDUFS4):c.376C>T (p.Leu126=) single nucleotide variant not provided [RCV003765259]|not specified [RCV000196869] Chr5:53658576 [GRCh38]
Chr5:52954406 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002495.3(NDUFS4):c.143A>G (p.Gln48Arg) single nucleotide variant not specified [RCV000197049] Chr5:53603496 [GRCh38]
Chr5:52899326 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.-6A>T single nucleotide variant Leigh syndrome [RCV001151560]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001151559]|NDUFS4-related disorder [RCV003917799]|not specified [RCV000198638] Chr5:53560657 [GRCh38]
Chr5:52856487 [GRCh37]
Chr5:5q11.2		 benign|uncertain significance
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) single nucleotide variant Inborn genetic diseases [RCV002517243]|Leigh syndrome [RCV000329830]|Mitochondrial complex I deficiency [RCV000660466]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000295911]|NDUFS4-related disorder [RCV003947635]|not provided [RCV000198881] Chr5:53560675 [GRCh38]
Chr5:52856505 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_002495.4(NDUFS4):c.251G>A (p.Arg84His) single nucleotide variant not provided [RCV000199395] Chr5:53646306 [GRCh38]
Chr5:52942136 [GRCh37]
Chr5:5q11.2		 likely pathogenic|uncertain significance
NM_002495.4(NDUFS4):c.444_446dup (p.Glu149dup) duplication not specified [RCV000195800] Chr5:53683134..53683135 [GRCh38]
Chr5:52978964..52978965 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.389C>G (p.Thr130Ser) single nucleotide variant not specified [RCV000199422] Chr5:53658589 [GRCh38]
Chr5:52954419 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.487A>G (p.Asn163Asp) single nucleotide variant Inborn genetic diseases [RCV002536568]|not provided [RCV000757550] Chr5:53683180 [GRCh38]
Chr5:52979010 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.-22C>A single nucleotide variant Leigh syndrome [RCV000268982]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000365896] Chr5:53560641 [GRCh38]
Chr5:52856471 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.*46G>A single nucleotide variant Leigh syndrome [RCV000313869]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000270413]|not provided [RCV001653697] Chr5:53683267 [GRCh38]
Chr5:52979097 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002495.4(NDUFS4):c.178-4G>C single nucleotide variant Leigh syndrome [RCV000395461]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000337873]|not provided [RCV002523527] Chr5:53646229 [GRCh38]
Chr5:52942059 [GRCh37]
Chr5:5q11.2		 benign|uncertain significance
NM_002495.4(NDUFS4):c.*79A>G single nucleotide variant Leigh syndrome [RCV000274350]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000370910] Chr5:53683300 [GRCh38]
Chr5:52979130 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.350+5G>A single nucleotide variant Lactic acidosis [RCV001269385]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001291034] Chr5:53646410 [GRCh38]
Chr5:52942240 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.424+19dup duplication Leigh syndrome [RCV000363200]|Mitochondrial complex I deficiency [RCV000310876]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001778936]|not provided [RCV001515833]|not specified [RCV002298576] Chr5:53658638..53658639 [GRCh38]
Chr5:52954468..52954469 [GRCh37]
Chr5:5q11.2		 benign|likely benign
NM_002495.4(NDUFS4):c.351-11_351-8del deletion Leigh syndrome [RCV000390165]|Mitochondrial complex I deficiency [RCV000359717]|Mitochondrial complex I deficiency [RCV000509247]|not provided [RCV001712152] Chr5:53658537..53658540 [GRCh38]
Chr5:52954367..52954370 [GRCh37]
Chr5:5q11.2		 benign|likely benign|uncertain significance|not provided
NM_002495.4(NDUFS4):c.377_384del (p.Leu126fs) deletion not provided [RCV000627633] Chr5:53658574..53658581 [GRCh38]
Chr5:52954404..52954411 [GRCh37]
Chr5:5q11.2		 likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) single nucleotide variant Leigh syndrome [RCV001157095]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001157096]|not provided [RCV000906096] Chr5:53603503 [GRCh38]
Chr5:52899333 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_002495.4(NDUFS4):c.-6A>C single nucleotide variant not specified [RCV000427116] Chr5:53560657 [GRCh38]
Chr5:52856487 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.10_12delinsCTC (p.Val4Leu) indel not specified [RCV000478751] Chr5:53560672..53560674 [GRCh38]
Chr5:52856502..52856504 [GRCh37]
Chr5:5q11.2		 likely benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5q11.2(chr5:50824656-53452371)x1 copy number loss See cases [RCV000511681] Chr5:50824656..53452371 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_002495.4(NDUFS4):c.470_471del (p.Lys156_Ser157insTer) deletion Leigh syndrome [RCV000578386] Chr5:53683163..53683164 [GRCh38]
Chr5:52978993..52978994 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.178-2A>G single nucleotide variant Leigh syndrome [RCV000578463] Chr5:53646231 [GRCh38]
Chr5:52942061 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.259A>G (p.Met87Val) single nucleotide variant Inborn genetic diseases [RCV003301653] Chr5:53646314 [GRCh38]
Chr5:52942144 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.266C>A (p.Ser89Tyr) single nucleotide variant Inborn genetic diseases [RCV003280572] Chr5:53646321 [GRCh38]
Chr5:52942151 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.99-1G>A single nucleotide variant Leigh syndrome [RCV000588112]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000007294]|not provided [RCV003558447] Chr5:53603451 [GRCh38]
Chr5:52899281 [GRCh37]
Chr5:5q11.2		 pathogenic
GRCh37/hg19 5q11.2(chr5:52962907-53158123)x1 copy number loss not provided [RCV000682552] Chr5:52962907..53158123 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.512_514dup (p.Arg171_Val172insGly) duplication Mitochondrial complex I deficiency [RCV000673864] Chr5:53683204..53683205 [GRCh38]
Chr5:52979034..52979035 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) single nucleotide variant Leigh syndrome [RCV000714800]|Mitochondrial complex I deficiency [RCV000714799]|Mitochondrial complex I deficiency, nuclear type 1 [RCV002532977]|not provided [RCV003558540] Chr5:53658555 [GRCh38]
Chr5:52954385 [GRCh37]
Chr5:5q11.2		 likely pathogenic|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_002495.4(NDUFS4):c.99-103_99-101dup duplication not provided [RCV001535148] Chr5:53603336..53603337 [GRCh38]
Chr5:52899166..52899167 [GRCh37]
Chr5:5q11.2		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_002495.4(NDUFS4):c.47G>T (p.Arg16Leu) single nucleotide variant not provided [RCV003313458] Chr5:53560709 [GRCh38]
Chr5:52856539 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.98+207G>T single nucleotide variant not provided [RCV000829027] Chr5:53560967 [GRCh38]
Chr5:52856797 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.425-174G>A single nucleotide variant not provided [RCV000829031] Chr5:53682944 [GRCh38]
Chr5:52978774 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.178-158A>G single nucleotide variant not provided [RCV000843253] Chr5:53646075 [GRCh38]
Chr5:52941905 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.350+296dup duplication not provided [RCV000829028] Chr5:53646695..53646696 [GRCh38]
Chr5:52942525..52942526 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.350+174_350+175del deletion not provided [RCV000843255] Chr5:53646579..53646580 [GRCh38]
Chr5:52942409..52942410 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.350+228C>T single nucleotide variant not provided [RCV000843257] Chr5:53646633 [GRCh38]
Chr5:52942463 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.425-226C>T single nucleotide variant not provided [RCV000843259] Chr5:53682892 [GRCh38]
Chr5:52978722 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.178-228G>A single nucleotide variant not provided [RCV000843251] Chr5:53646005 [GRCh38]
Chr5:52941835 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.424+60T>G single nucleotide variant not provided [RCV000830754] Chr5:53658684 [GRCh38]
Chr5:52954514 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.98+289A>G single nucleotide variant not provided [RCV000831852] Chr5:53561049 [GRCh38]
Chr5:52856879 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs) duplication Leigh syndrome [RCV001193078]|Mitochondrial complex I deficiency, nuclear type 1 [RCV003469307] Chr5:53683163..53683164 [GRCh38]
Chr5:52978993..52978994 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NC_000005.9:g.(?_52285299)_(56189507_?)del deletion not provided [RCV003107599] Chr5:52285299..56189507 [GRCh37]
Chr5:5q11.2		 pathogenic
NC_000005.9:g.(?_52856493)_(52856610_?)del deletion not provided [RCV003107706] Chr5:52856493..52856610 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.424+134T>C single nucleotide variant not provided [RCV001555557] Chr5:53658758 [GRCh38]
Chr5:52954588 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.351-66A>C single nucleotide variant not provided [RCV001555642] Chr5:53658485 [GRCh38]
Chr5:52954315 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.424+178_424+180dup duplication not provided [RCV001676416] Chr5:53658784..53658785 [GRCh38]
Chr5:52954614..52954615 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.425-70G>A single nucleotide variant not provided [RCV001558039] Chr5:53683048 [GRCh38]
Chr5:52978878 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.425-184T>C single nucleotide variant not provided [RCV001575620] Chr5:53682934 [GRCh38]
Chr5:52978764 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.178-81A>G single nucleotide variant not provided [RCV001570821] Chr5:53646152 [GRCh38]
Chr5:52941982 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.424+296C>A single nucleotide variant not provided [RCV001552857] Chr5:53658920 [GRCh38]
Chr5:52954750 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.516A>G (p.Val172=) single nucleotide variant not provided [RCV000914357] Chr5:53683209 [GRCh38]
Chr5:52979039 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) single nucleotide variant Leigh syndrome [RCV001157094]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001157093]|not provided [RCV003227918] Chr5:53603460 [GRCh38]
Chr5:52899290 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) single nucleotide variant Leigh syndrome [RCV001154690]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001154689]|not provided [RCV000911644] Chr5:53658560 [GRCh38]
Chr5:52954390 [GRCh37]
Chr5:5q11.2		 likely benign|uncertain significance
NM_002495.4(NDUFS4):c.425-184T>G single nucleotide variant not provided [RCV001558096] Chr5:53682934 [GRCh38]
Chr5:52978764 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.178-204C>T single nucleotide variant not provided [RCV001693509] Chr5:53646029 [GRCh38]
Chr5:52941859 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.178-308dup duplication not provided [RCV001591557] Chr5:53645924..53645925 [GRCh38]
Chr5:52941754..52941755 [GRCh37]
Chr5:5q11.2		 likely benign
NC_000005.10:g.53560400A>T single nucleotide variant not provided [RCV001685848] Chr5:53560400 [GRCh38]
Chr5:52856230 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.98+126A>G single nucleotide variant not provided [RCV001655930] Chr5:53560886 [GRCh38]
Chr5:52856716 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.350+6T>C single nucleotide variant Leigh syndrome [RCV001151647]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001151648] Chr5:53646411 [GRCh38]
Chr5:52942241 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) single nucleotide variant Leigh syndrome [RCV001154571]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001154572]|not provided [RCV001824417] Chr5:53560667 [GRCh38]
Chr5:52856497 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.424+180dup duplication not provided [RCV001616744] Chr5:53658784..53658785 [GRCh38]
Chr5:52954614..52954615 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.425-174del deletion not provided [RCV001641314] Chr5:53682944 [GRCh38]
Chr5:52978774 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.124T>C (p.Leu42=) single nucleotide variant not provided [RCV001693585] Chr5:53603477 [GRCh38]
Chr5:52899307 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.424+179_424+180dup duplication not provided [RCV001668662] Chr5:53658784..53658785 [GRCh38]
Chr5:52954614..52954615 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.99-101dup duplication not provided [RCV001645326] Chr5:53603336..53603337 [GRCh38]
Chr5:52899166..52899167 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.99-102_99-101dup duplication not provided [RCV001714432] Chr5:53603336..53603337 [GRCh38]
Chr5:52899166..52899167 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.351-101G>A single nucleotide variant not provided [RCV001537364] Chr5:53658450 [GRCh38]
Chr5:52954280 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.340T>C (p.Trp114Arg) single nucleotide variant not provided [RCV001202146] Chr5:53646395 [GRCh38]
Chr5:52942225 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe) single nucleotide variant Leigh syndrome [RCV001155411]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001155412]|not provided [RCV002559496] Chr5:53560739 [GRCh38]
Chr5:52856569 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) single nucleotide variant Leigh syndrome [RCV001154573]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001154574] Chr5:53560671 [GRCh38]
Chr5:52856501 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.*88T>A single nucleotide variant Leigh syndrome [RCV001154691]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001154692] Chr5:53683309 [GRCh38]
Chr5:52979139 [GRCh37]
Chr5:5q11.2		 uncertain significance
GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1 copy number loss not provided [RCV001258850] Chr5:49430268..53182665 [GRCh37]
Chr5:5q11.1-11.2		 pathogenic
NM_002495.4(NDUFS4):c.474_478dup (p.Tyr160fs) duplication Mitochondrial complex I deficiency, nuclear type 1 [RCV001260294] Chr5:53683166..53683167 [GRCh38]
Chr5:52978996..52978997 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.73C>T (p.Leu25Phe) single nucleotide variant Leigh syndrome [RCV001328960] Chr5:53560735 [GRCh38]
Chr5:52856565 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.80T>A (p.Val27Asp) single nucleotide variant Leigh syndrome [RCV001328961]|not provided [RCV002070156]|not specified [RCV004587126] Chr5:53560742 [GRCh38]
Chr5:52856572 [GRCh37]
Chr5:5q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001328959] Chr5:53683199 [GRCh38]
Chr5:52979029 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.425-167_425-164del microsatellite not provided [RCV001686605] Chr5:53682947..53682950 [GRCh38]
Chr5:52978777..52978780 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.424+174_424+180del deletion not provided [RCV001537256] Chr5:53658785..53658791 [GRCh38]
Chr5:52954615..52954621 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.424+159_424+160insA insertion not provided [RCV001732950] Chr5:53658783..53658784 [GRCh38]
Chr5:52954613..52954614 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.2T>C (p.Met1Thr) single nucleotide variant not specified [RCV001733380] Chr5:53560664 [GRCh38]
Chr5:52856494 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.38C>T (p.Thr13Met) single nucleotide variant not provided [RCV001896324] Chr5:53560700 [GRCh38]
Chr5:52856530 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.440T>C (p.Ile147Thr) single nucleotide variant not provided [RCV001891743] Chr5:53683133 [GRCh38]
Chr5:52978963 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.160A>G (p.Thr54Ala) single nucleotide variant not provided [RCV001997684] Chr5:53603513 [GRCh38]
Chr5:52899343 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.432C>G (p.Ser144Arg) single nucleotide variant not provided [RCV002047221] Chr5:53683125 [GRCh38]
Chr5:52978955 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.28C>T (p.Leu10=) single nucleotide variant not provided [RCV002082681] Chr5:53560690 [GRCh38]
Chr5:52856520 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.39G>A (p.Thr13=) single nucleotide variant not provided [RCV002202186] Chr5:53560701 [GRCh38]
Chr5:52856531 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.504_511del (p.Arg169fs) deletion Leigh syndrome [RCV003123428] Chr5:53683191..53683198 [GRCh38]
Chr5:52979021..52979028 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.3G>A (p.Met1Ile) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV003148505] Chr5:53560665 [GRCh38]
Chr5:52856495 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.350+1G>A single nucleotide variant Leigh syndrome [RCV002307852]|Mitochondrial complex I deficiency, nuclear type 1 [RCV003464420]|not provided [RCV002261480] Chr5:53646406 [GRCh38]
Chr5:52942236 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic|not provided
NM_002495.4(NDUFS4):c.61G>C (p.Ala21Pro) single nucleotide variant not provided [RCV002838123] Chr5:53560723 [GRCh38]
Chr5:52856553 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.250C>T (p.Arg84Cys) single nucleotide variant not provided [RCV002685916] Chr5:53646305 [GRCh38]
Chr5:52942135 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.68C>T (p.Ala23Val) single nucleotide variant not provided [RCV002947348] Chr5:53560730 [GRCh38]
Chr5:52856560 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.131A>G (p.Gln44Arg) single nucleotide variant not provided [RCV002638243] Chr5:53603484 [GRCh38]
Chr5:52899314 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.208G>T (p.Glu70Ter) single nucleotide variant not provided [RCV003038410] Chr5:53646263 [GRCh38]
Chr5:52942093 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.497G>A (p.Trp166Ter) single nucleotide variant not provided [RCV002591933] Chr5:53683190 [GRCh38]
Chr5:52979020 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.425-20T>G single nucleotide variant not provided [RCV003036453] Chr5:53683098 [GRCh38]
Chr5:52978928 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.393dup (p.Glu132fs) duplication Mitochondrial complex I deficiency, nuclear type 1 [RCV003459775]|not provided [RCV002664365] Chr5:53658590..53658591 [GRCh38]
Chr5:52954420..52954421 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.100T>C (p.Ser34Pro) single nucleotide variant not provided [RCV003043521] Chr5:53603453 [GRCh38]
Chr5:52899283 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.99-6C>T single nucleotide variant not provided [RCV002643342] Chr5:53603446 [GRCh38]
Chr5:52899276 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.278A>G (p.Asn93Ser) single nucleotide variant not provided [RCV002766496] Chr5:53646333 [GRCh38]
Chr5:52942163 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.512_516dup (p.Ser173fs) duplication Inborn genetic diseases [RCV002697618] Chr5:53683203..53683204 [GRCh38]
Chr5:52979033..52979034 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.356A>G (p.Asp119Gly) single nucleotide variant Inborn genetic diseases [RCV004064950]|not provided [RCV002851319] Chr5:53658556 [GRCh38]
Chr5:52954386 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.78C>A (p.Ser26=) single nucleotide variant not provided [RCV002720918] Chr5:53560740 [GRCh38]
Chr5:52856570 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.167A>C (p.Asp56Ala) single nucleotide variant not provided [RCV002647157] Chr5:53603520 [GRCh38]
Chr5:52899350 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.25G>C (p.Val9Leu) single nucleotide variant not provided [RCV002597401] Chr5:53560687 [GRCh38]
Chr5:52856517 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.506_508dup (p.Arg169_Thr170insArg) duplication Inborn genetic diseases [RCV002769044] Chr5:53683196..53683197 [GRCh38]
Chr5:52979026..52979027 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs) deletion Inborn genetic diseases [RCV002717926]|Mitochondrial complex I deficiency, nuclear type 1 [RCV003466002] Chr5:53646374..53646377 [GRCh38]
Chr5:52942204..52942207 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic
NM_002495.4(NDUFS4):c.454G>T (p.Val152Phe) single nucleotide variant not provided [RCV002636038] Chr5:53683147 [GRCh38]
Chr5:52978977 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.177+14A>G single nucleotide variant not provided [RCV002657904] Chr5:53603544 [GRCh38]
Chr5:52899374 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.438_443dup (p.Ile147_Glu148insAspIle) duplication not provided [RCV002588133] Chr5:53683127..53683128 [GRCh38]
Chr5:52978957..52978958 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.101C>T (p.Ser34Leu) single nucleotide variant not provided [RCV002586315] Chr5:53603454 [GRCh38]
Chr5:52899284 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.12_13delinsCC (p.Ser5Pro) indel not provided [RCV002611937] Chr5:53560674..53560675 [GRCh38]
Chr5:52856504..52856505 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.221del (p.Thr74fs) deletion Leigh syndrome [RCV003155692]|Mitochondrial complex I deficiency, nuclear type 1 [RCV003466026] Chr5:53646276 [GRCh38]
Chr5:52942106 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic
NM_002495.4(NDUFS4):c.351-1G>C single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV003228710] Chr5:53658550 [GRCh38]
Chr5:52954380 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.299A>G (p.Glu100Gly) single nucleotide variant Inborn genetic diseases [RCV003194110] Chr5:53646354 [GRCh38]
Chr5:52942184 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.350+1G>T single nucleotide variant Leigh syndrome [RCV004594688] Chr5:53646406 [GRCh38]
Chr5:52942236 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic
NM_002495.4(NDUFS4):c.477T>C (p.Ser159=) single nucleotide variant not provided [RCV003875806] Chr5:53683170 [GRCh38]
Chr5:52979000 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.226A>G (p.Lys76Glu) single nucleotide variant Inborn genetic diseases [RCV003371363] Chr5:53646281 [GRCh38]
Chr5:52942111 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.235del (p.Ile79fs) deletion Mitochondrial complex I deficiency, nuclear type 1 [RCV003463104] Chr5:53646290 [GRCh38]
Chr5:52942120 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.136dup (p.Gln46fs) duplication Mitochondrial complex I deficiency, nuclear type 1 [RCV003463107] Chr5:53603487..53603488 [GRCh38]
Chr5:52899317..52899318 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.351-2A>G single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV003448862] Chr5:53658549 [GRCh38]
Chr5:52954379 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.351-14T>A single nucleotide variant not provided [RCV003826661] Chr5:53658537 [GRCh38]
Chr5:52954367 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.415G>T (p.Glu139Ter) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV003463102] Chr5:53658615 [GRCh38]
Chr5:52954445 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.179dup (p.Asp60fs) duplication not provided [RCV003569760] Chr5:53646233..53646234 [GRCh38]
Chr5:52942063..52942064 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.90T>C (p.Val30=) single nucleotide variant not provided [RCV003571788] Chr5:53560752 [GRCh38]
Chr5:52856582 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.63T>C (p.Ala21=) single nucleotide variant not provided [RCV003686305] Chr5:53560725 [GRCh38]
Chr5:52856555 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.141T>A (p.Thr47=) single nucleotide variant not provided [RCV003570511] Chr5:53603494 [GRCh38]
Chr5:52899324 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.342G>A (p.Trp114Ter) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV003471396] Chr5:53646397 [GRCh38]
Chr5:52942227 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.26del (p.Val9fs) deletion Mitochondrial complex I deficiency, nuclear type 1 [RCV003471394]|not provided [RCV003565680] Chr5:53560688 [GRCh38]
Chr5:52856518 [GRCh37]
Chr5:5q11.2		 pathogenic|likely pathogenic
NM_002495.4(NDUFS4):c.479dup (p.Tyr160Ter) duplication Mitochondrial complex I deficiency, nuclear type 1 [RCV003471397] Chr5:53683171..53683172 [GRCh38]
Chr5:52979001..52979002 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.424G>T (p.Gly142Ter) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV003471395] Chr5:53658624 [GRCh38]
Chr5:52954454 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.351-2A>C single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV003463106] Chr5:53658549 [GRCh38]
Chr5:52954379 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.424+2T>A single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV003463103] Chr5:53658626 [GRCh38]
Chr5:52954456 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.98+19T>A single nucleotide variant not provided [RCV003547270] Chr5:53560779 [GRCh38]
Chr5:52856609 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.189T>G (p.Thr63=) single nucleotide variant not provided [RCV003547301] Chr5:53646244 [GRCh38]
Chr5:52942074 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.98+22del deletion not provided [RCV003694482] Chr5:53560779 [GRCh38]
Chr5:52856609 [GRCh37]
Chr5:5q11.2		 benign
NM_002495.4(NDUFS4):c.98+17A>G single nucleotide variant not provided [RCV003696504] Chr5:53560777 [GRCh38]
Chr5:52856607 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.320G>A (p.Trp107Ter) single nucleotide variant not provided [RCV003690608] Chr5:53646375 [GRCh38]
Chr5:52942205 [GRCh37]
Chr5:5q11.2		 pathogenic
NC_000005.9:g.(52954455_52978947)_(52979169_?)dup duplication not specified [RCV003489604] Chr5:52978947..52979169 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.424+7T>G single nucleotide variant not provided [RCV003830594] Chr5:53658631 [GRCh38]
Chr5:52954461 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.78C>T (p.Ser26=) single nucleotide variant not provided [RCV003660319] Chr5:53560740 [GRCh38]
Chr5:52856570 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.444A>G (p.Glu148=) single nucleotide variant not provided [RCV003714936] Chr5:53683137 [GRCh38]
Chr5:52978967 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.279C>T (p.Asn93=) single nucleotide variant not provided [RCV003694069] Chr5:53646334 [GRCh38]
Chr5:52942164 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.144A>G (p.Gln48=) single nucleotide variant not provided [RCV003714417] Chr5:53603497 [GRCh38]
Chr5:52899327 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.426A>G (p.Gly142=) single nucleotide variant not provided [RCV003694168] Chr5:53683119 [GRCh38]
Chr5:52978949 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.99-7A>G single nucleotide variant not provided [RCV003695347] Chr5:53603445 [GRCh38]
Chr5:52899275 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.231C>T (p.Val77=) single nucleotide variant not provided [RCV003573776] Chr5:53646286 [GRCh38]
Chr5:52942116 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.177+7A>T single nucleotide variant not provided [RCV003659779] Chr5:53603537 [GRCh38]
Chr5:52899367 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.424+14del deletion not provided [RCV003692037] Chr5:53658638 [GRCh38]
Chr5:52954468 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.298G>T (p.Glu100Ter) single nucleotide variant not provided [RCV003691252] Chr5:53646353 [GRCh38]
Chr5:52942183 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.261_262delinsTT (p.Met87_Gln88delinsIleTer) indel not provided [RCV003690033] Chr5:53646316..53646317 [GRCh38]
Chr5:52942146..52942147 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.178-19T>C single nucleotide variant not provided [RCV003881464] Chr5:53646214 [GRCh38]
Chr5:52942044 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.90T>A (p.Val30=) single nucleotide variant not provided [RCV003545479] Chr5:53560752 [GRCh38]
Chr5:52856582 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.350+1G>C single nucleotide variant not provided [RCV003547709] Chr5:53646406 [GRCh38]
Chr5:52942236 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.198A>T (p.Gly66=) single nucleotide variant not provided [RCV003664241] Chr5:53646253 [GRCh38]
Chr5:52942083 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.123A>G (p.Arg41=) single nucleotide variant not provided [RCV003717073] Chr5:53603476 [GRCh38]
Chr5:52899306 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.72C>T (p.Ala24=) single nucleotide variant not provided [RCV003850629] Chr5:53560734 [GRCh38]
Chr5:52856564 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.471C>G (p.Ser157=) single nucleotide variant not provided [RCV003835489] Chr5:53683164 [GRCh38]
Chr5:52978994 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.402A>C (p.Ala134=) single nucleotide variant not provided [RCV003580013] Chr5:53658602 [GRCh38]
Chr5:52954432 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.350+19T>C single nucleotide variant not provided [RCV003699261] Chr5:53646424 [GRCh38]
Chr5:52942254 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.178-4G>A single nucleotide variant not provided [RCV003666382] Chr5:53646229 [GRCh38]
Chr5:52942059 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.20C>A (p.Ser7Ter) single nucleotide variant not provided [RCV003701357] Chr5:53560682 [GRCh38]
Chr5:52856512 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.315G>A (p.Glu105=) single nucleotide variant not provided [RCV003669711] Chr5:53646370 [GRCh38]
Chr5:52942200 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.510A>T (p.Thr170=) single nucleotide variant not provided [RCV003664462] Chr5:53683203 [GRCh38]
Chr5:52979033 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.350+13T>C single nucleotide variant not provided [RCV003814816] Chr5:53646418 [GRCh38]
Chr5:52942248 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.42G>A (p.Leu14=) single nucleotide variant not provided [RCV003839500] Chr5:53560704 [GRCh38]
Chr5:52856534 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.350+18A>G single nucleotide variant not provided [RCV003723449] Chr5:53646423 [GRCh38]
Chr5:52942253 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.528G>A (p.Ter176=) single nucleotide variant not provided [RCV003559876] Chr5:53683221 [GRCh38]
Chr5:52979051 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.177+17A>C single nucleotide variant not provided [RCV003837449] Chr5:53603547 [GRCh38]
Chr5:52899377 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.177+14A>C single nucleotide variant not provided [RCV003667684] Chr5:53603544 [GRCh38]
Chr5:52899374 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.324A>G (p.Glu108=) single nucleotide variant not provided [RCV003659651] Chr5:53646379 [GRCh38]
Chr5:52942209 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.36G>A (p.Gln12=) single nucleotide variant not provided [RCV003668288] Chr5:53560698 [GRCh38]
Chr5:52856528 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.219A>G (p.Lys73=) single nucleotide variant not provided [RCV003701675] Chr5:53646274 [GRCh38]
Chr5:52942104 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.162A>G (p.Thr54=) single nucleotide variant not provided [RCV003816467] Chr5:53603515 [GRCh38]
Chr5:52899345 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.351-13T>G single nucleotide variant not provided [RCV003703872] Chr5:53658538 [GRCh38]
Chr5:52954368 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.425-14T>G single nucleotide variant not provided [RCV003710375] Chr5:53683104 [GRCh38]
Chr5:52978934 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.98+8A>T single nucleotide variant not provided [RCV003670824] Chr5:53560768 [GRCh38]
Chr5:52856598 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.156C>T (p.Leu52=) single nucleotide variant not provided [RCV003564704] Chr5:53603509 [GRCh38]
Chr5:52899339 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.381C>T (p.Thr127=) single nucleotide variant not provided [RCV003733952] Chr5:53658581 [GRCh38]
Chr5:52954411 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.309C>A (p.Thr103=) single nucleotide variant not provided [RCV003860499] Chr5:53646364 [GRCh38]
Chr5:52942194 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.425-9T>C single nucleotide variant not provided [RCV003842003] Chr5:53683109 [GRCh38]
Chr5:52978939 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.168T>C (p.Asp56=) single nucleotide variant not provided [RCV003565871] Chr5:53603521 [GRCh38]
Chr5:52899351 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.480T>C (p.Tyr160=) single nucleotide variant not provided [RCV003857903] Chr5:53683173 [GRCh38]
Chr5:52979003 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.177+8T>G single nucleotide variant not provided [RCV003822349] Chr5:53603538 [GRCh38]
Chr5:52899368 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.483T>G (p.Gly161=) single nucleotide variant not provided [RCV003854202] Chr5:53683176 [GRCh38]
Chr5:52979006 [GRCh37]
Chr5:5q11.2		 likely benign
GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1 copy number loss not specified [RCV003986571] Chr5:49430268..57925870 [GRCh37]
Chr5:5q11.1-11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.474G>A (p.Lys158=) single nucleotide variant not provided [RCV003685766] Chr5:53683167 [GRCh38]
Chr5:52978997 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.425-5C>T single nucleotide variant not provided [RCV003733097] Chr5:53683113 [GRCh38]
Chr5:52978943 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.351-10T>C single nucleotide variant not provided [RCV003722985] Chr5:53658541 [GRCh38]
Chr5:52954371 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.351-5T>C single nucleotide variant not provided [RCV003675900] Chr5:53658546 [GRCh38]
Chr5:52954376 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.117A>G (p.Thr39=) single nucleotide variant not provided [RCV003556903] Chr5:53603470 [GRCh38]
Chr5:52899300 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.178-15dup duplication not provided [RCV003704639] Chr5:53646217..53646218 [GRCh38]
Chr5:52942047..52942048 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.87G>A (p.Arg29=) single nucleotide variant not provided [RCV003858003] Chr5:53560749 [GRCh38]
Chr5:52856579 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.360del (p.Leu121fs) deletion not provided [RCV003552895] Chr5:53658558 [GRCh38]
Chr5:52954388 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.98+9dup duplication not provided [RCV003708035] Chr5:53560767..53560768 [GRCh38]
Chr5:52856597..52856598 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.360C>T (p.Pro120=) single nucleotide variant not provided [RCV003705291] Chr5:53658560 [GRCh38]
Chr5:52954390 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.99-12C>T single nucleotide variant not provided [RCV003866351] Chr5:53603440 [GRCh38]
Chr5:52899270 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.98+17_98+18del microsatellite not provided [RCV003710034] Chr5:53560774..53560775 [GRCh38]
Chr5:52856604..52856605 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.15A>G (p.Ser5=) single nucleotide variant not provided [RCV003731541] Chr5:53560677 [GRCh38]
Chr5:52856507 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.60G>C (p.Val20=) single nucleotide variant NDUFS4-related disorder [RCV003919716] Chr5:53560722 [GRCh38]
Chr5:52856552 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.-7C>T single nucleotide variant NDUFS4-related disorder [RCV003933940] Chr5:53560656 [GRCh38]
Chr5:52856486 [GRCh37]
Chr5:5q11.2		 likely benign
NM_002495.4(NDUFS4):c.1A>T (p.Met1Leu) single nucleotide variant not specified [RCV004587765] Chr5:53560663 [GRCh38]
Chr5:52856493 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.263A>G (p.Gln88Arg) single nucleotide variant Inborn genetic diseases [RCV004480247] Chr5:53646318 [GRCh38]
Chr5:52942148 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.114del (p.Thr39fs) deletion Mitochondrial complex I deficiency, nuclear type 1 [RCV004576318] Chr5:53603466 [GRCh38]
Chr5:52899296 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.295del (p.Met99fs) deletion Mitochondrial complex I deficiency, nuclear type 1 [RCV004576317] Chr5:53646350 [GRCh38]
Chr5:52942180 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NM_002495.4(NDUFS4):c.20C>G (p.Ser7Ter) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV004576316] Chr5:53560682 [GRCh38]
Chr5:52856512 [GRCh37]
Chr5:5q11.2		 likely pathogenic
NC_000005.9:g.(?_52954361)_(52954474_?)del deletion not provided [RCV004580607] Chr5:52954361..52954474 [GRCh37]
Chr5:5q11.2		 pathogenic
NM_002495.4(NDUFS4):c.212A>G (p.His71Arg) single nucleotide variant Inborn genetic diseases [RCV004654653] Chr5:53646267 [GRCh38]
Chr5:52942097 [GRCh37]
Chr5:5q11.2		 uncertain significance
NM_002495.4(NDUFS4):c.295A>G (p.Met99Val) single nucleotide variant Inborn genetic diseases [RCV004654654] Chr5:53646350 [GRCh38]
Chr5:52942180 [GRCh37]
Chr5:5q11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:655
Count of miRNA genes:327
Interacting mature miRNAs:349
Transcripts:ENST00000296684, ENST00000502423, ENST00000506765, ENST00000506974, ENST00000507026, ENST00000509443
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407143397GWAS792373_HBMI-adjusted waist circumference QTL GWAS792373 (human)1e-08BMI-adjusted waist circumference55368099553680996Human
406998343GWAS647319_HBMI-adjusted waist circumference QTL GWAS647319 (human)5e-09BMI-adjusted waist circumference55368099553680996Human
407065926GWAS714902_Heducational attainment QTL GWAS714902 (human)7e-14educational attainment55368112553681126Human
407187171GWAS836147_Hurinary uromodulin measurement QTL GWAS836147 (human)0.000007urinary uromodulin measurement55367213753672138Human
406897190GWAS546166_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS546166 (human)0.0000003BMI-adjusted waist circumference, physical activity measurementvoluntary body movement measurement (CMO:0000954)55368099553680996Human
407065924GWAS714900_Heducational attainment QTL GWAS714900 (human)5e-09educational attainment55360797453607975Human
407162125GWAS811101_HBMI-adjusted waist circumference QTL GWAS811101 (human)0.000001BMI-adjusted waist circumference55368099553680996Human
406931148GWAS580124_Hbrain volume measurement QTL GWAS580124 (human)1e-08brain volume measurementbrain morphological measurement (CMO:0000136)55356067453560675Human
407291785GWAS940761_Haminoadipic acid measurement QTL GWAS940761 (human)0.0000009amino acid metabolism trait (VT:0010631)55356104953561050Human
407162571GWAS811547_HBMI-adjusted waist circumference QTL GWAS811547 (human)0.000002BMI-adjusted waist circumference55368099553680996Human
407136464GWAS785440_HBMI-adjusted waist circumference QTL GWAS785440 (human)5e-08BMI-adjusted waist circumference55368099553680996Human
407106774GWAS755750_Hself reported educational attainment QTL GWAS755750 (human)4e-09self reported educational attainment55368112553681126Human
407300336GWAS949312_Hcolorectal cancer QTL GWAS949312 (human)2e-10colorectal cancer55362066253620663Human
406897527GWAS546503_Hvisual masking mesurement QTL GWAS546503 (human)0.000002visual masking mesurement55360797453607975Human
407121113GWAS770089_Hhair colour measurement QTL GWAS770089 (human)8e-10hair colour measurementcoat/hair color measurement (CMO:0001808)55360723453607235Human
406901471GWAS550447_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS550447 (human)0.0000001BMI-adjusted waist circumference, physical activity measurementvoluntary body movement measurement (CMO:0000954)55368099553680996Human

Markers in Region
SHGC-100364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,971,694 - 52,971,966UniSTSGRCh37
Build 36553,007,451 - 53,007,723RGDNCBI36
Celera549,925,288 - 49,925,560RGD
Cytogenetic Map5q11.1UniSTS
HuRef549,944,309 - 49,944,581UniSTS
TNG Radiation Hybrid Map524132.0UniSTS
SHGC-100842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,873,532 - 52,873,866UniSTSGRCh37
Build 36552,909,289 - 52,909,623RGDNCBI36
Celera549,827,132 - 49,827,466RGD
Cytogenetic Map5q11.1UniSTS
HuRef549,846,252 - 49,846,586UniSTS
TNG Radiation Hybrid Map524079.0UniSTS
D5S1732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,872,965 - 52,873,121UniSTSGRCh37
Build 36552,908,722 - 52,908,878RGDNCBI36
Celera549,826,566 - 49,826,722RGD
Cytogenetic Map5q11.1UniSTS
HuRef549,845,686 - 49,845,842UniSTS
Whitehead-RH Map5184.2UniSTS
Whitehead-YAC Contig Map5 UniSTS
STS-H45672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37552,978,879 - 52,978,999UniSTSGRCh37
Build 36553,014,636 - 53,014,756RGDNCBI36
Celera549,932,473 - 49,932,593RGD
Cytogenetic Map5q11.1UniSTS
HuRef549,951,490 - 49,951,610UniSTS
GeneMap99-GB4 RH Map5272.28UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI001139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU145342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU954271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD692133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA609203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB489661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000296684   ⟹   ENSP00000296684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,560,639 - 53,683,338 (+)Ensembl
Ensembl Acc Id: ENST00000502423   ⟹   ENSP00000422177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,560,635 - 53,683,138 (+)Ensembl
Ensembl Acc Id: ENST00000506765   ⟹   ENSP00000424570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,560,675 - 53,683,338 (+)Ensembl
Ensembl Acc Id: ENST00000506974   ⟹   ENSP00000425967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,560,647 - 53,683,338 (+)Ensembl
Ensembl Acc Id: ENST00000507026   ⟹   ENSP00000424993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,560,633 - 53,683,219 (+)Ensembl
Ensembl Acc Id: ENST00000509443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl553,646,195 - 53,658,789 (+)Ensembl
RefSeq Acc Id: NM_001318051   ⟹   NP_001304980
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38553,560,639 - 53,683,338 (+)NCBI
CHM1_1552,859,380 - 52,982,064 (+)NCBI
T2T-CHM13v2.0554,388,486 - 54,511,162 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002495   ⟹   NP_002486
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38553,560,639 - 53,683,338 (+)NCBI
GRCh37552,856,464 - 52,979,171 (+)NCBI
Build 36552,892,242 - 53,014,925 (+)NCBI Archive
HuRef549,829,192 - 49,951,782 (+)ENTREZGENE
CHM1_1552,859,380 - 52,982,064 (+)NCBI
T2T-CHM13v2.0554,388,486 - 54,511,162 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134473
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38553,560,639 - 53,683,338 (+)NCBI
CHM1_1552,859,380 - 52,982,064 (+)NCBI
T2T-CHM13v2.0554,388,486 - 54,511,162 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134474
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38553,560,639 - 53,683,338 (+)NCBI
CHM1_1552,859,380 - 52,982,064 (+)NCBI
T2T-CHM13v2.0554,388,486 - 54,511,162 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134475
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38553,560,639 - 53,683,338 (+)NCBI
CHM1_1552,859,380 - 52,982,064 (+)NCBI
T2T-CHM13v2.0554,388,486 - 54,511,162 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002486   ⟸   NM_002495
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9BS69 (UniProtKB/Swiss-Prot),   O43181 (UniProtKB/Swiss-Prot),   A0A0S2Z433 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304980   ⟸   NM_001318051
- Peptide Label: isoform 2 precursor
- UniProtKB: H0Y9M8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000422177   ⟸   ENST00000502423
Ensembl Acc Id: ENSP00000425967   ⟸   ENST00000506974
Ensembl Acc Id: ENSP00000424570   ⟸   ENST00000506765
Ensembl Acc Id: ENSP00000296684   ⟸   ENST00000296684
Ensembl Acc Id: ENSP00000424993   ⟸   ENST00000507026

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43181-F1-model_v2 AlphaFold O43181 1-175 view protein structure

Promoters
RGD ID:6803390
Promoter ID:HG_KWN:50110
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002495
Position:
Human AssemblyChrPosition (strand)Source
Build 36552,892,046 - 52,892,546 (+)MPROMDB
RGD ID:6851892
Promoter ID:EP73752
Type:initiation region
Name:HS_NDUFS4
Description:NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa(NADH-coenzyme Q reductase).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36552,892,244 - 52,892,304EPD
RGD ID:6869596
Promoter ID:EPDNEW_H7961
Type:initiation region
Name:NDUFS4_1
Description:NADH:ubiquinone oxidoreductase subunit S4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38553,560,639 - 53,560,699EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7711 AgrOrtholog
COSMIC NDUFS4 COSMIC
Ensembl Genes ENSG00000164258 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296684 ENTREZGENE
  ENST00000296684.10 UniProtKB/Swiss-Prot
  ENST00000502423.5 UniProtKB/TrEMBL
  ENST00000506765 ENTREZGENE
  ENST00000506765.1 UniProtKB/TrEMBL
  ENST00000506974 ENTREZGENE
  ENST00000506974.5 UniProtKB/TrEMBL
  ENST00000507026 ENTREZGENE
  ENST00000507026.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.160.190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164258 GTEx
HGNC ID HGNC:7711 ENTREZGENE
Human Proteome Map NDUFS4 Human Proteome Map
InterPro NADH_UbQ_FeS_4_mit UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NDUFS4-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4724 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4724 ENTREZGENE
OMIM 602694 OMIM
PANTHER NADH DEHYDROGENASE [UBIQUINONE] IRON-SULFUR PROTEIN 4, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12219 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ETC_C1_NDUFA4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31521 PharmGKB
UniProt A0A0S2Z433 ENTREZGENE, UniProtKB/TrEMBL
  D6R916_HUMAN UniProtKB/TrEMBL
  D6REP1_HUMAN UniProtKB/TrEMBL
  D6RI09_HUMAN UniProtKB/TrEMBL
  H0Y9M8 ENTREZGENE, UniProtKB/TrEMBL
  NDUS4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9BS69 ENTREZGENE
UniProt Secondary Q9BS69 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NDUFS4  NADH:ubiquinone oxidoreductase subunit S4  NDUFS4  NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)  Symbol and/or name change 5135510 APPROVED