SLC25A4 (solute carrier family 25 member 4) - Rat Genome Database

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Gene: SLC25A4 (solute carrier family 25 member 4) Homo sapiens
Analyze
Symbol: SLC25A4
Name: solute carrier family 25 member 4
RGD ID: 732748
HGNC Page HGNC
Description: Enables ATP:ADP antiporter activity. Involved in mitochondrial ADP transmembrane transport; mitochondrial ATP transmembrane transport; and negative regulation of necroptotic process. Located in mitochondrial inner membrane. Implicated in intrinsic cardiomyopathy (multiple); mitochondrial DNA depletion syndrome (multiple); and mitochondrial myopathy (multiple). Biomarker of Alzheimer's disease and facioscapulohumeral muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 1; AAC1; adenine nucleotide translocator 1 (skeletal muscle); ADP,ATP carrier protein 1; ADP,ATP carrier protein, heart/skeletal muscle; ADP/ATP translocase 1; ANT; ANT 1; ANT1; heart/skeletal muscle ATP/ADP translocator; MTDPS12; MTDPS12A; PEO2; PEO3; PEOA2; solute carrier family 25 (mitochondrial adenine nucleotide translocator) member 4; solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4; T1
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
GRCh38.p13 Ensembl4185,143,266 - 185,150,382 (+)EnsemblGRCh38hg38GRCh38
GRCh384185,143,266 - 185,150,382 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374186,064,420 - 186,071,536 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364186,301,392 - 186,305,419 (+)NCBINCBI36hg18NCBI36
Build 344186,439,546 - 186,443,573NCBI
Celera4183,391,334 - 183,398,454 (+)NCBI
Cytogenetic Map4q35.1NCBI
HuRef4181,818,234 - 181,825,547 (+)NCBIHuRef
CHM1_14186,040,918 - 186,048,039 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-acetamidofluorene  (ISO)
2-hydroxypropanoic acid  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyhexenal  (ISO)
acetamide  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
bongkrekic acid  (ISO)
cadmium atom  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
clobetasol  (ISO)
clofibrate  (ISO)
closantel  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
daunorubicin  (ISO)
deguelin  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
ethanol  (ISO)
fenofibrate  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
furan  (ISO)
gentamycin  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lamivudine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
okadaic acid  (EXP)
ozone  (ISO)
p-menthan-3-ol  (EXP)
p-toluidine  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylarsine oxide  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
puerarin  (ISO)
pyrazinecarboxamide  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

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

Human Phenotype
Abnormal electroretinogram  (IAGP)
Abnormality of mitochondrial metabolism  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the mitochondrion  (IAGP)
Absent Achilles reflex  (IAGP)
Adult onset  (IAGP)
Anxiety  (IAGP)
Atrial fibrillation  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bipolar affective disorder  (IAGP)
Bradykinesia  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral visual impairment  (IAGP)
Cognitive impairment  (IAGP)
Cogwheel rigidity  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Corneal dystrophy  (IAGP)
Cytochrome C oxidase-negative muscle fibers  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Difficulty climbing stairs  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Easy fatigability  (IAGP)
Edema  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated hepatic transaminase  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Exercise intolerance  (IAGP)
Exertional dyspnea  (IAGP)
External ophthalmoplegia  (IAGP)
Facial diplegia  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Focal white matter lesions  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastroparesis  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Glaucoma  (IAGP)
Goiter  (IAGP)
Hearing impairment  (IAGP)
Heterogeneous  (IAGP)
Hyperthyroidism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypokinesia  (IAGP)
Hypomimic face  (IAGP)
Hyporeflexia  (IAGP)
Hypothyroidism  (IAGP)
Inability to walk  (IAGP)
Increased serum lactate  (IAGP)
Ketosis  (IAGP)
Lactic acidosis  (IAGP)
Left ventricular hypertrophy  (IAGP)
Lethargy  (IAGP)
Migraine  (IAGP)
Mitochondrial myopathy  (IAGP)
Mitochondrial respiratory chain defects  (IAGP)
Multiple mitochondrial DNA deletions  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Nocturia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Organic aciduria  (IAGP)
Osteoporosis  (IAGP)
Palpitations  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Progressive  (IAGP)
Progressive external ophthalmoplegia  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Ptosis  (IAGP)
Quadriceps muscle weakness  (IAGP)
Ragged-red muscle fibers  (IAGP)
Reduced ejection fraction  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Resting tremor  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slowly progressive  (IAGP)
Strabismus  (IAGP)
Subsarcolemmal accumulations of abnormally shaped mitochondria  (IAGP)
Ventricular arrhythmia  (IAGP)
Vertigo  (IAGP)
References

References - curated
1. Amadoro G, etal., Neurobiol Aging. 2012 Apr;33(4):833.e1-25. doi: 10.1016/j.neurobiolaging.2011.08.001. Epub 2011 Sep 29.
2. Deschauer M, etal., Neuromuscul Disord. 2005 Apr;15(4):311-5. Epub 2005 Jan 28.
3. Esposito LA, etal., Proc Natl Acad Sci U S A. 1999 Apr 27;96(9):4820-5.
4. Fontes-Oliveira CC, etal., Biochim Biophys Acta. 2013 Mar;1830(3):2770-8. doi: 10.1016/j.bbagen.2012.11.009.
5. GOA_HUMAN data from the GO Consortium
6. Hang T, etal., Ann Clin Lab Sci. 2006 Winter;36(1):88-95.
7. Jing L, etal., Med Sci Monit. 2011 Jan;17(1):BR1-9.
8. Laoudj-Chenivesse D, etal., J Mol Med. 2005 Mar;83(3):216-24. Epub 2004 Nov 17.
9. Liang X, etal., J Cardiovasc Pharmacol. 2014 Jan;63(1):68-75. doi: 10.1097/FJC.0000000000000027.
10. Manchado C, etal., J Mol Cell Cardiol. 2002 May;34(5):571-82.
11. OMIM Disease Annotation Pipeline
12. Palmieri L, etal., Hum Mol Genet. 2005 Oct 15;14(20):3079-88. Epub 2005 Sep 9.
13. Pipeline to import KEGG annotations from KEGG into RGD
14. Pipeline to import SMPDB annotations from SMPDB into RGD
15. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. RGD automated import pipeline for gene-chemical interactions
17. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Siciliano G, etal., Neuromuscul Disord. 2003 Feb;13(2):162-5.
19. Walther T, etal., Circulation. 2007 Jan 23;115(3):333-44. Epub 2007 Jan 8.
Additional References at PubMed
PMID:1582253   PMID:2541251   PMID:2547778   PMID:2823266   PMID:2829183   PMID:8103757   PMID:8479824   PMID:8619474   PMID:8644740   PMID:9110174   PMID:9748162   PMID:9874241  
PMID:10364542   PMID:10620603   PMID:10926541   PMID:11175251   PMID:11181702   PMID:11193032   PMID:11287411   PMID:11756592   PMID:11756613   PMID:11809823   PMID:12039962   PMID:12112115  
PMID:12140186   PMID:12149099   PMID:12450408   PMID:12477932   PMID:12663490   PMID:12707443   PMID:12750393   PMID:12750404   PMID:14729611   PMID:15033717   PMID:15142377   PMID:15231833  
PMID:15489334   PMID:15638722   PMID:15725353   PMID:15817944   PMID:15832179   PMID:16020522   PMID:16107323   PMID:16120388   PMID:16226712   PMID:16354571   PMID:16429131   PMID:16492162  
PMID:16507998   PMID:16511342   PMID:16556444   PMID:16887100   PMID:17328670   PMID:17331040   PMID:17420318   PMID:17586316   PMID:17586317   PMID:18094160   PMID:18504126   PMID:18575922  
PMID:18852887   PMID:19149577   PMID:19232058   PMID:19275580   PMID:19275583   PMID:19275588   PMID:19425506   PMID:19759019   PMID:19786618   PMID:19840444   PMID:19965780   PMID:20007455  
PMID:20012529   PMID:20160640   PMID:20181062   PMID:20186120   PMID:20504995   PMID:20528917   PMID:20698827   PMID:20833797   PMID:20843780   PMID:20877624   PMID:21145461   PMID:21196320  
PMID:21318276   PMID:21319273   PMID:21370995   PMID:21586654   PMID:21630459   PMID:21873635   PMID:21918813   PMID:22187496   PMID:22350218   PMID:22354994   PMID:22658674   PMID:22939629  
PMID:23246001   PMID:23266187   PMID:23401503   PMID:23464991   PMID:24189400   PMID:24244333   PMID:24316735   PMID:24485628   PMID:24524965   PMID:24725412   PMID:24884163   PMID:24886575  
PMID:25315684   PMID:25659154   PMID:25670202   PMID:25963833   PMID:26184877   PMID:26186194   PMID:26217791   PMID:26344197   PMID:26389662   PMID:26460568   PMID:26496610   PMID:27173435  
PMID:27221760   PMID:27342126   PMID:27499296   PMID:27592226   PMID:27641616   PMID:27693233   PMID:28302793   PMID:28317877   PMID:28514442   PMID:28515276   PMID:28718761   PMID:28823815  
PMID:28947214   PMID:29128334   PMID:29229926   PMID:29255148   PMID:29395067   PMID:29397938   PMID:29507755   PMID:29517884   PMID:29653079   PMID:29845934   PMID:29955894   PMID:30097533  
PMID:30463901   PMID:30581152   PMID:30804502   PMID:30940648   PMID:31091453   PMID:31501420   PMID:31536960   PMID:31617661   PMID:31883789   PMID:31980649   PMID:31995728   PMID:32376155  
PMID:32457219   PMID:32807901   PMID:32877691   PMID:32890892   PMID:33022573   PMID:33396658   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
SLC25A4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4185,143,266 - 185,150,382 (+)EnsemblGRCh38hg38GRCh38
GRCh384185,143,266 - 185,150,382 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374186,064,420 - 186,071,536 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364186,301,392 - 186,305,419 (+)NCBINCBI36hg18NCBI36
Build 344186,439,546 - 186,443,573NCBI
Celera4183,391,334 - 183,398,454 (+)NCBI
Cytogenetic Map4q35.1NCBI
HuRef4181,818,234 - 181,825,547 (+)NCBIHuRef
CHM1_14186,040,918 - 186,048,039 (+)NCBICHM1_1
Slc25a4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39846,660,205 - 46,664,099 (-)NCBIGRCm39mm39
GRCm39 Ensembl846,659,834 - 46,664,321 (-)Ensembl
GRCm38846,207,168 - 46,211,062 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl846,206,797 - 46,211,284 (-)EnsemblGRCm38mm10GRCm38
MGSCv37847,292,693 - 47,296,363 (-)NCBIGRCm37mm9NCBIm37
MGSCv36847,705,502 - 47,710,101 (-)NCBImm8
MGSCv36845,369,594 - 45,374,194 (-)NCBImm8
Celera848,888,832 - 48,892,502 (-)NCBICelera
Cytogenetic Map8B1.1NCBI
cM Map826.22NCBI
Slc25a4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21646,072,935 - 46,076,730 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1646,072,939 - 46,076,733 (+)Ensembl
Rnor_6.01649,266,903 - 49,270,698 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1649,266,903 - 49,270,698 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01648,981,600 - 48,985,395 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41649,353,476 - 49,357,271 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11649,353,550 - 49,357,346 (+)NCBI
Celera1644,072,219 - 44,076,014 (+)NCBICelera
Cytogenetic Map16q11NCBI
Slc25a4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540323,878,329 - 23,882,322 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540323,878,329 - 23,882,322 (-)NCBIChiLan1.0ChiLan1.0
SLC25A4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14189,531,914 - 189,534,549 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4189,531,914 - 189,534,549 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04177,310,982 - 177,315,016 (+)NCBIMhudiblu_PPA_v0panPan3
SLC25A4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11645,454,660 - 45,458,606 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1645,411,810 - 45,542,162 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1645,942,189 - 45,946,135 (-)NCBI
ROS_Cfam_1.01647,671,404 - 47,675,349 (-)NCBI
UMICH_Zoey_3.11645,638,494 - 45,642,440 (-)NCBI
UNSW_CanFamBas_1.01646,251,541 - 46,255,470 (-)NCBI
UU_Cfam_GSD_1.01646,383,474 - 46,387,417 (-)NCBI
Slc25a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494333,974,957 - 33,979,529 (+)NCBI
SpeTri2.0NW_0049365544,130,461 - 4,135,046 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC25A4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1546,193,699 - 46,200,994 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11546,193,498 - 46,197,989 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21552,922,472 - 52,926,762 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC25A4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17131,102,077 - 131,106,076 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037111,362,070 - 111,369,325 (+)NCBIVero_WHO_p1.0
Slc25a4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476915,989,527 - 15,993,609 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D4S2504E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,068,056 - 186,068,278UniSTSGRCh37
Build 364186,305,050 - 186,305,272RGDNCBI36
Celera4183,394,972 - 183,395,194RGD
Cytogenetic Map4q35UniSTS
HuRef4181,822,065 - 181,822,287UniSTS
GDB:201790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,063,046 - 186,063,989UniSTSGRCh37
Build 364186,300,040 - 186,300,983RGDNCBI36
Celera4183,389,963 - 183,390,906RGD
Cytogenetic Map4q35UniSTS
HuRef4181,816,859 - 181,817,806UniSTS
D4S3175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,068,173 - 186,068,274UniSTSGRCh37
Build 364186,305,167 - 186,305,268RGDNCBI36
Celera4183,395,089 - 183,395,190RGD
Cytogenetic Map4q35UniSTS
HuRef4181,822,182 - 181,822,283UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-59680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,071,291 - 186,071,476UniSTSGRCh37
Build 364186,308,285 - 186,308,470RGDNCBI36
Celera4183,398,207 - 183,398,392RGD
Cytogenetic Map4q35UniSTS
HuRef4181,825,300 - 181,825,485UniSTS
GeneMap99-GB4 RH Map4683.16UniSTS
SHGC-59518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,067,017 - 186,067,122UniSTSGRCh37
Build 364186,304,011 - 186,304,116RGDNCBI36
Celera4183,393,933 - 183,394,038RGD
Cytogenetic Map4q35UniSTS
HuRef4181,821,026 - 181,821,131UniSTS
GeneMap99-GB4 RH Map4683.27UniSTS
NCBI RH Map41723.8UniSTS
G33947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,066,032 - 186,066,289UniSTSGRCh37
Build 364186,303,026 - 186,303,283RGDNCBI36
Celera4183,392,948 - 183,393,205RGD
Cytogenetic Map4q35UniSTS
HuRef4181,820,041 - 181,820,298UniSTS
A006N06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,068,190 - 186,068,426UniSTSGRCh37
Build 364186,305,184 - 186,305,420RGDNCBI36
Celera4183,395,106 - 183,395,342RGD
Cytogenetic Map4q35UniSTS
HuRef4181,822,199 - 181,822,435UniSTS
GeneMap99-GB4 RH Map4683.47UniSTS
NCBI RH Map41723.8UniSTS
SHGC-59516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,068,040 - 186,068,290UniSTSGRCh37
Build 364186,305,034 - 186,305,284RGDNCBI36
Celera4183,394,956 - 183,395,206RGD
Cytogenetic Map4q35UniSTS
HuRef4181,822,049 - 181,822,299UniSTS
GeneMap99-GB4 RH Map4683.27UniSTS
NCBI RH Map41723.8UniSTS
STS-F10917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,071,314 - 186,071,407UniSTSGRCh37
Build 364186,308,308 - 186,308,401RGDNCBI36
Celera4183,398,230 - 183,398,323RGD
Cytogenetic Map4q35UniSTS
HuRef4181,825,323 - 181,825,416UniSTS
GeneMap99-GB4 RH Map4683.16UniSTS
NCBI RH Map41724.2UniSTS
SLC25A4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,066,297 - 186,066,975UniSTSGRCh37
GRCh374186,065,961 - 186,066,380UniSTSGRCh37
Celera4183,393,213 - 183,393,891UniSTS
Celera4183,392,877 - 183,393,296UniSTS
HuRef4181,819,970 - 181,820,389UniSTS
HuRef4181,820,306 - 181,820,984UniSTS
GDB:201792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,067,111 - 186,067,958UniSTSGRCh37
Celera4183,394,027 - 183,394,874UniSTS
Cytogenetic Map4q35UniSTS
HuRef4181,821,120 - 181,821,967UniSTS
MARC_5085-5086:996690129:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,066,271 - 186,067,010UniSTSGRCh37
Celera4183,393,187 - 183,393,926UniSTS
HuRef4181,820,280 - 181,821,019UniSTS
SLC25A4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,066,297 - 186,066,975UniSTSGRCh37
GRCh374186,065,961 - 186,066,380UniSTSGRCh37
Celera4183,393,213 - 183,393,891UniSTS
Celera4183,392,877 - 183,393,296UniSTS
HuRef4181,819,970 - 181,820,389UniSTS
HuRef4181,820,306 - 181,820,984UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1410
Count of miRNA genes:801
Interacting mature miRNAs:923
Transcripts:ENST00000281456, ENST00000491736
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 9 3 10 3
Medium 2376 2203 1597 519 914 365 3727 2160 3523 391 1376 1557 164 1166 2554 3
Low 51 626 124 103 875 99 624 21 185 27 72 50 7 38 231 1
Below cutoff 4 146 2 153 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC061589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG707401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI544547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ206385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000281456   ⟹   ENSP00000281456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4185,143,266 - 185,150,382 (+)Ensembl
RefSeq Acc Id: ENST00000491736   ⟹   ENSP00000476711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4185,143,278 - 185,147,241 (+)Ensembl
RefSeq Acc Id: NM_001151   ⟹   NP_001142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,143,266 - 185,150,382 (+)NCBI
GRCh374186,064,417 - 186,071,538 (+)ENTREZGENE
Build 364186,301,392 - 186,305,419 (+)NCBI Archive
HuRef4181,818,234 - 181,825,547 (+)ENTREZGENE
CHM1_14186,040,918 - 186,048,039 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001142 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36751 (Get FASTA)   NCBI Sequence Viewer  
  AAA51736 (Get FASTA)   NCBI Sequence Viewer  
  AAA61223 (Get FASTA)   NCBI Sequence Viewer  
  AAH08664 (Get FASTA)   NCBI Sequence Viewer  
  AAH61589 (Get FASTA)   NCBI Sequence Viewer  
  AAH63643 (Get FASTA)   NCBI Sequence Viewer  
  ADP92294 (Get FASTA)   NCBI Sequence Viewer  
  ADP92295 (Get FASTA)   NCBI Sequence Viewer  
  ADP92296 (Get FASTA)   NCBI Sequence Viewer  
  ADP92297 (Get FASTA)   NCBI Sequence Viewer  
  ADP92298 (Get FASTA)   NCBI Sequence Viewer  
  ADP92299 (Get FASTA)   NCBI Sequence Viewer  
  ADP92300 (Get FASTA)   NCBI Sequence Viewer  
  ADP92301 (Get FASTA)   NCBI Sequence Viewer  
  ADP92302 (Get FASTA)   NCBI Sequence Viewer  
  ADP92303 (Get FASTA)   NCBI Sequence Viewer  
  ADP92304 (Get FASTA)   NCBI Sequence Viewer  
  ADP92305 (Get FASTA)   NCBI Sequence Viewer  
  ADP92306 (Get FASTA)   NCBI Sequence Viewer  
  ADP92307 (Get FASTA)   NCBI Sequence Viewer  
  ADP92308 (Get FASTA)   NCBI Sequence Viewer  
  ADP92309 (Get FASTA)   NCBI Sequence Viewer  
  ADP92310 (Get FASTA)   NCBI Sequence Viewer  
  ADP92311 (Get FASTA)   NCBI Sequence Viewer  
  ADP92312 (Get FASTA)   NCBI Sequence Viewer  
  ADP92313 (Get FASTA)   NCBI Sequence Viewer  
  ADP92314 (Get FASTA)   NCBI Sequence Viewer  
  ADP92315 (Get FASTA)   NCBI Sequence Viewer  
  ADP92316 (Get FASTA)   NCBI Sequence Viewer  
  ADP92317 (Get FASTA)   NCBI Sequence Viewer  
  ADP92318 (Get FASTA)   NCBI Sequence Viewer  
  ADP92319 (Get FASTA)   NCBI Sequence Viewer  
  ADP92320 (Get FASTA)   NCBI Sequence Viewer  
  ADP92321 (Get FASTA)   NCBI Sequence Viewer  
  ADP92322 (Get FASTA)   NCBI Sequence Viewer  
  ADP92323 (Get FASTA)   NCBI Sequence Viewer  
  ADP92324 (Get FASTA)   NCBI Sequence Viewer  
  ADP92325 (Get FASTA)   NCBI Sequence Viewer  
  ADP92326 (Get FASTA)   NCBI Sequence Viewer  
  ADP92327 (Get FASTA)   NCBI Sequence Viewer  
  ADP92328 (Get FASTA)   NCBI Sequence Viewer  
  ADP92329 (Get FASTA)   NCBI Sequence Viewer  
  ADP92330 (Get FASTA)   NCBI Sequence Viewer  
  ADP92331 (Get FASTA)   NCBI Sequence Viewer  
  ADP92332 (Get FASTA)   NCBI Sequence Viewer  
  ADP92333 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33358 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33359 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33360 (Get FASTA)   NCBI Sequence Viewer  
  BAD93001 (Get FASTA)   NCBI Sequence Viewer  
  BAF84591 (Get FASTA)   NCBI Sequence Viewer  
  EAX04655 (Get FASTA)   NCBI Sequence Viewer  
  EAX04656 (Get FASTA)   NCBI Sequence Viewer  
  P12235 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001142   ⟸   NM_001151
- UniProtKB: P12235 (UniProtKB/Swiss-Prot),   A0A0S2Z3H3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000476711   ⟸   ENST00000491736
RefSeq Acc Id: ENSP00000281456   ⟸   ENST00000281456

Promoters
RGD ID:6869022
Promoter ID:EPDNEW_H7676
Type:initiation region
Name:SLC25A4_1
Description:solute carrier family 25 member 4
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
GRCh384185,143,266 - 185,143,326EPDNEW
RGD ID:6802607
Promoter ID:HG_KWN:49587
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:OTTHUMT00000259170,   UC003IXE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364186,301,149 - 186,301,649 (+)MPROMDB
RGD ID:6852638
Promoter ID:EP74131
Type:multiple initiation site
Name:HS_SLC25A4
Description:Solute carrier family 25 (mitochondrial carrier; adenine member 4e translocator), member 4.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 364186,301,414 - 186,301,474EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000004.11:g.(?_186064507)_(186436064_?)dup duplication Primary dilated cardiomyopathy [RCV000546834] Chr4:186064507..186436064 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.98A>C (p.Lys33Thr) single nucleotide variant not provided [RCV000522666] Chr4:185143470 [GRCh38]
Chr4:186064624 [GRCh37]
Chr4:4q35.1
likely pathogenic
NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000019907] Chr4:185144992 [GRCh38]
Chr4:186066146 [GRCh37]
Chr4:4q35.1
pathogenic
NM_001151.4(SLC25A4):c.865G>A (p.Val289Met) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000019908] Chr4:185146939 [GRCh38]
Chr4:186068093 [GRCh37]
Chr4:4q35.1
pathogenic
NM_001151.4(SLC25A4):c.293T>C (p.Leu98Pro) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000019909] Chr4:185144945 [GRCh38]
Chr4:186066099 [GRCh37]
Chr4:4q35.1
pathogenic
NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000019910] Chr4:185144963 [GRCh38]
Chr4:186066117 [GRCh37]
Chr4:4q35.1
pathogenic
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001198599]|Left ventricular hypertrophy [RCV000626768]|Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive [RCV000019911]|Mitochondrial myopathy [RCV000626769]|Myopia [RCV000626767]|not provided [RCV000414338] Chr4:185145020 [GRCh38]
Chr4:186066174 [GRCh37]
Chr4:4q35.1
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 copy number loss See cases [RCV000050324] Chr4:181579626..186100199 [GRCh38]
Chr4:182500779..187021353 [GRCh37]
Chr4:182737773..187258347 [NCBI36]
Chr4:4q34.3-35.1
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 copy number loss See cases [RCV000050771] Chr4:173599911..188624331 [GRCh38]
Chr4:174521062..189545485 [GRCh37]
Chr4:174757637..189782479 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1 copy number loss See cases [RCV000050665] Chr4:183528264..188624331 [GRCh38]
Chr4:184449417..189545485 [GRCh37]
Chr4:184686411..189782479 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 copy number loss See cases [RCV000051215] Chr4:175483683..189975519 [GRCh38]
Chr4:176404834..190828225 [GRCh37]
Chr4:176641828..191133668 [NCBI36]
Chr4:4q34.2-35.2
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 copy number gain See cases [RCV000051805] Chr4:179946068..189548183 [GRCh38]
Chr4:180867221..190469337 [GRCh37]
Chr4:181104215..190706331 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3 copy number gain See cases [RCV000051806] Chr4:182990639..186013514 [GRCh38]
Chr4:183911792..186934668 [GRCh37]
Chr4:184148786..187171662 [NCBI36]
Chr4:4q35.1
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 copy number loss See cases [RCV000053353] Chr4:173754675..189343295 [GRCh38]
Chr4:174675826..190264449 [GRCh37]
Chr4:174912401..190501443 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1 copy number loss See cases [RCV000053378] Chr4:183354112..190042639 [GRCh38]
Chr4:184275265..190828225 [GRCh37]
Chr4:184512259..191200788 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1 copy number loss See cases [RCV000053379] Chr4:185074103..189867552 [GRCh38]
Chr4:185995257..190788707 [GRCh37]
Chr4:186232251..191025701 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|See cases [RCV000053373] Chr4:176263514..189975519 [GRCh38]
Chr4:177184665..190828225 [GRCh37]
Chr4:177421659..191133668 [NCBI36]
Chr4:4q34.2-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 copy number loss See cases [RCV000053374] Chr4:177442769..190042639 [GRCh38]
Chr4:178363923..190828225 [GRCh37]
Chr4:178600917..191200788 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 copy number loss See cases [RCV000053375] Chr4:179669472..189975660 [GRCh38]
Chr4:180590625..190828225 [GRCh37]
Chr4:180827619..191133809 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|See cases [RCV000053376] Chr4:179945868..189975660 [GRCh38]
Chr4:180867021..190828225 [GRCh37]
Chr4:181104015..191133809 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|See cases [RCV000053377] Chr4:181455566..189975660 [GRCh38]
Chr4:182376719..190828225 [GRCh37]
Chr4:182613713..191133809 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
NM_001151.4(SLC25A4):c.111+1G>A single nucleotide variant Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive [RCV000056253] Chr4:185143484 [GRCh38]
Chr4:186064638 [GRCh37]
Chr4:4q35.1
pathogenic
NM_001151.4(SLC25A4):c.681G>A (p.Val227=) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000281408]|none provided [RCV001286584]|not provided [RCV000874615]|not specified [RCV000128097] Chr4:185145841 [GRCh38]
Chr4:186066995 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.-25G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000287163]|none provided [RCV001282493]|not specified [RCV000128098] Chr4:185143348 [GRCh38]
Chr4:186064502 [GRCh37]
Chr4:4q35.1
benign
GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678) copy number loss Behavioral abnormality [RCV001291982] Chr4:179554876..190916678 [GRCh37]
Chr4:4q34.3-35.2
likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3 copy number gain See cases [RCV000133708] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190828225 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1 copy number loss See cases [RCV000133709] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190896674 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2
likely pathogenic|likely benign
GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3 copy number gain See cases [RCV000134158] Chr4:184406972..188915538 [GRCh38]
Chr4:185328126..189836692 [GRCh37]
Chr4:185565120..190073686 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 copy number loss See cases [RCV000134276] Chr4:182437091..190018185 [GRCh38]
Chr4:183358244..190939340 [GRCh37]
Chr4:183595238..191176334 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 copy number gain See cases [RCV000135693] Chr4:180451652..190095391 [GRCh38]
Chr4:181372805..190828225 [GRCh37]
Chr4:181609799..191250527 [NCBI36]
Chr4:4q34.3-35.2
likely pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 copy number loss See cases [RCV000136115] Chr4:173854560..189548183 [GRCh38]
Chr4:174775711..190469337 [GRCh37]
Chr4:175012286..190706331 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1 copy number loss See cases [RCV000136942] Chr4:184239531..189975519 [GRCh38]
Chr4:185160684..190828225 [GRCh37]
Chr4:185397678..191133668 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 copy number loss See cases [RCV000137101] Chr4:177985956..189975519 [GRCh38]
Chr4:178907110..190828225 [GRCh37]
Chr4:179144104..191133668 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 copy number loss See cases [RCV000137343] Chr4:178014570..190095391 [GRCh38]
Chr4:178935724..190828225 [GRCh37]
Chr4:179172718..191250527 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 copy number loss See cases [RCV000137262] Chr4:178549472..190095391 [GRCh38]
Chr4:179470626..190828225 [GRCh37]
Chr4:179707620..191250527 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 copy number loss See cases [RCV000137345] Chr4:180574962..190095391 [GRCh38]
Chr4:181496115..190828225 [GRCh37]
Chr4:181733109..191250527 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q35.1(chr4:184573059-185237739)x3 copy number gain See cases [RCV000137905] Chr4:184573059..185237739 [GRCh38]
Chr4:185494213..186158893 [GRCh37]
Chr4:185731207..186395887 [NCBI36]
Chr4:4q35.1
uncertain significance
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1 copy number loss See cases [RCV000137925] Chr4:174150183..188259055 [GRCh38]
Chr4:175071334..189180209 [GRCh37]
Chr4:175307909..189417203 [NCBI36]
Chr4:4q34.1-35.2
likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 copy number loss See cases [RCV000138668] Chr4:183072743..190095391 [GRCh38]
Chr4:183993896..190828225 [GRCh37]
Chr4:184230890..191250527 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2
uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 copy number gain See cases [RCV000140450] Chr4:179295511..190036318 [GRCh38]
Chr4:180216665..190957473 [GRCh37]
Chr4:180453659..191194467 [NCBI36]
Chr4:4q34.3-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3 copy number gain See cases [RCV000141422] Chr4:184924265..186578389 [GRCh38]
Chr4:185845419..187499543 [GRCh37]
Chr4:186082413..187736537 [NCBI36]
Chr4:4q35.1-35.2
pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2
pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 copy number loss See cases [RCV000141490] Chr4:173989029..189975519 [GRCh38]
Chr4:174910180..190828225 [GRCh37]
Chr4:175146755..191133668 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 copy number gain See cases [RCV000141753] Chr4:182732498..187998523 [GRCh38]
Chr4:183653651..188919677 [GRCh37]
Chr4:183890645..189156671 [NCBI36]
Chr4:4q35.1-35.2
likely pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1 copy number loss See cases [RCV000142279] Chr4:181762338..185175891 [GRCh38]
Chr4:182683491..186097045 [GRCh37]
Chr4:182920485..186334039 [NCBI36]
Chr4:4q34.3-35.1
uncertain significance
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3 copy number gain See cases [RCV000143010] Chr4:180717850..190095391 [GRCh38]
Chr4:181639003..190828225 [GRCh37]
Chr4:181875997..191250527 [NCBI36]
Chr4:4q34.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2
pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2
pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 copy number loss See cases [RCV000143626] Chr4:176756632..189621964 [GRCh38]
Chr4:177677786..190543118 [GRCh37]
Chr4:177914780..190780112 [NCBI36]
Chr4:4q34.3-35.2
likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 copy number loss See cases [RCV000148272] Chr4:181579626..186100199 [GRCh38]
Chr4:182500779..187021353 [GRCh37]
Chr4:182737773..187258347 [NCBI36]
Chr4:4q34.3-35.1
pathogenic
NM_001151.4(SLC25A4):c.*2529C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000260580] Chr4:185149500 [GRCh38]
Chr4:186070654 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met) single nucleotide variant not provided [RCV000200332] Chr4:185146829 [GRCh38]
Chr4:186067983 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.371G>A (p.Gly124Glu) single nucleotide variant not provided [RCV000196570] Chr4:185145023 [GRCh38]
Chr4:186066177 [GRCh37]
Chr4:4q35.1
likely pathogenic|uncertain significance
NM_001151.4(SLC25A4):c.499T>A (p.Ser167Thr) single nucleotide variant not specified [RCV000197567] Chr4:185145151 [GRCh38]
Chr4:186066305 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.832G>A (p.Val278Met) single nucleotide variant not provided [RCV000198462] Chr4:185146906 [GRCh38]
Chr4:186068060 [GRCh37]
Chr4:4q35.1
likely pathogenic
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) single nucleotide variant not provided [RCV000876376]|not specified [RCV000196396] Chr4:185145142 [GRCh38]
Chr4:186066296 [GRCh37]
Chr4:4q35.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001151.4(SLC25A4):c.523del (p.Gln175fs) deletion not provided [RCV000196453] Chr4:185145174 [GRCh38]
Chr4:186066328 [GRCh37]
Chr4:4q35.1
pathogenic
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000378174]|none provided [RCV001285525]|not provided [RCV000677079]|not specified [RCV000200162] Chr4:185145219 [GRCh38]
Chr4:186066373 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.239G>A (p.Arg80His) single nucleotide variant Inborn genetic diseases [RCV000624243]|Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant [RCV000258873]|Mitochondrial diseases [RCV000491010]|not provided [RCV000479591] Chr4:185144891 [GRCh38]
Chr4:186066045 [GRCh37]
Chr4:4q35.1
pathogenic|likely pathogenic
NM_001151.4(SLC25A4):c.703C>G (p.Arg235Gly) single nucleotide variant Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant [RCV000258874]|Mitochondrial diseases [RCV000491457] Chr4:185145863 [GRCh38]
Chr4:186067017 [GRCh37]
Chr4:4q35.1
pathogenic
NM_001151.4(SLC25A4):c.116_137del (p.Gln39fs) deletion Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive [RCV000258875] Chr4:185144768..185144789 [GRCh38]
Chr4:186065922..186065943 [GRCh37]
Chr4:4q35.1
pathogenic
NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro) single nucleotide variant Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive [RCV000258878] Chr4:185145867 [GRCh38]
Chr4:186067021 [GRCh37]
Chr4:4q35.1
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1 copy number loss See cases [RCV000239790] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
NM_001151.4(SLC25A4):c.704G>A (p.Arg235His) single nucleotide variant not provided [RCV000519710] Chr4:185145864 [GRCh38]
Chr4:186067018 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1 copy number loss See cases [RCV000239851] Chr4:178243625..190713650 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1 copy number loss See cases [RCV000240072] Chr4:185941418..189180194 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_001151.4(SLC25A4):c.*1053T>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000282068] Chr4:185148024 [GRCh38]
Chr4:186069178 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.-103C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000269684] Chr4:185143270 [GRCh38]
Chr4:186064424 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.*2720G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000275310] Chr4:185149691 [GRCh38]
Chr4:186070845 [GRCh37]
Chr4:4q35.1
likely benign|uncertain significance
NM_001151.4(SLC25A4):c.*512A>G single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000265917] Chr4:185147483 [GRCh38]
Chr4:186068637 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*481G>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000272438] Chr4:185147452 [GRCh38]
Chr4:186068606 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.*873G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000267003] Chr4:185147844 [GRCh38]
Chr4:186068998 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*173_*174del deletion Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000351763] Chr4:185147144..185147145 [GRCh38]
Chr4:186068298..186068299 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*1378A>G single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000351999] Chr4:185148349 [GRCh38]
Chr4:186069503 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*2592C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000315855] Chr4:185149563 [GRCh38]
Chr4:186070717 [GRCh37]
Chr4:4q35.1
likely benign|uncertain significance
NM_001151.4(SLC25A4):c.*957T>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000317345] Chr4:185147928 [GRCh38]
Chr4:186069082 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.*1146T>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000318370] Chr4:185148117 [GRCh38]
Chr4:186069271 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.-46G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000379443] Chr4:185143327 [GRCh38]
Chr4:186064481 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*824C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000380230] Chr4:185147795 [GRCh38]
Chr4:186068949 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*1792C>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000402749] Chr4:185148763 [GRCh38]
Chr4:186069917 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*1985T>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000289078] Chr4:185148956 [GRCh38]
Chr4:186070110 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*3114C>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000381269] Chr4:185150085 [GRCh38]
Chr4:186071239 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.*671A>G single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000320979] Chr4:185147642 [GRCh38]
Chr4:186068796 [GRCh37]
Chr4:4q35.1
likely benign|uncertain significance
NM_001151.4(SLC25A4):c.243C>T (p.Tyr81=) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000339835] Chr4:185144895 [GRCh38]
Chr4:186066049 [GRCh37]
Chr4:4q35.1
likely benign|uncertain significance
NM_001151.4(SLC25A4):c.*2476G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000359979] Chr4:185149447 [GRCh38]
Chr4:186070601 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.756G>A (p.Thr252=) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000406594]|not provided [RCV000884082]|not specified [RCV000425551] Chr4:185146830 [GRCh38]
Chr4:186067984 [GRCh37]
Chr4:4q35.1
benign|likely benign|uncertain significance
NM_001151.4(SLC25A4):c.*2050A>G single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000406352] Chr4:185149021 [GRCh38]
Chr4:186070175 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.*2466C>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000305284] Chr4:185149437 [GRCh38]
Chr4:186070591 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.*3276C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000291622] Chr4:185150247 [GRCh38]
Chr4:186071401 [GRCh37]
Chr4:4q35.1
likely benign|uncertain significance
NM_001151.3(SLC25A4):c.-108C>T single nucleotide variant Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000385218] Chr4:185143265 [GRCh38]
Chr4:186064419 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*1245T>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000292721] Chr4:185148216 [GRCh38]
Chr4:186069370 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.*497T>G single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000363606] Chr4:185147468 [GRCh38]
Chr4:186068622 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.*2307T>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000308687] Chr4:185149278 [GRCh38]
Chr4:186070432 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*3070C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000326762] Chr4:185150041 [GRCh38]
Chr4:186071195 [GRCh37]
Chr4:4q35.1
benign|likely benign
NM_001151.4(SLC25A4):c.-84C>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000327206]|not provided [RCV000834844] Chr4:185143289 [GRCh38]
Chr4:186064443 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*2824G>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000389531] Chr4:185149795 [GRCh38]
Chr4:186070949 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*2943G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000295164] Chr4:185149914 [GRCh38]
Chr4:186071068 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*2436_*2437CT[1] microsatellite Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000395154] Chr4:185149406..185149407 [GRCh38]
Chr4:186070560..186070561 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.793G>A (p.Glu265Lys) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000313243] Chr4:185146867 [GRCh38]
Chr4:186068021 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.577G>A (p.Gly193Arg) single nucleotide variant not provided [RCV000522508] Chr4:185145229 [GRCh38]
Chr4:186066383 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*2782G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000330383] Chr4:185149753 [GRCh38]
Chr4:186070907 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*3277G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000346961] Chr4:185150248 [GRCh38]
Chr4:186071402 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*424A>G single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000364703] Chr4:185147395 [GRCh38]
Chr4:186068549 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.732G>C (p.Arg244=) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000334374] Chr4:185145892 [GRCh38]
Chr4:186067046 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*259_*261TAA[1] microsatellite Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000404200] Chr4:185147229..185147231 [GRCh38]
Chr4:186068383..186068385 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.*496_*499ATCT[3] microsatellite Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000306551] Chr4:185147463..185147464 [GRCh38]
Chr4:186068617..186068618 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.*1163G>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000386998] Chr4:185148134 [GRCh38]
Chr4:186069288 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*1020_*1023del deletion Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000372043] Chr4:185147981..185147984 [GRCh38]
Chr4:186069135..186069138 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.*2713G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000356065] Chr4:185149684 [GRCh38]
Chr4:186070838 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*323_*325TTA[1] microsatellite Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000312251] Chr4:185147294..185147296 [GRCh38]
Chr4:186068448..186068450 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*2350G>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV000358697] Chr4:185149321 [GRCh38]
Chr4:186070475 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*2037del deletion Progressive external ophthalmoplegia with mitochondrial DNA deletions [RCV000344011] Chr4:185149008 [GRCh38]
Chr4:186070162 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.72C>G (p.Thr24=) single nucleotide variant not provided [RCV000757774] Chr4:185143444 [GRCh38]
Chr4:186064598 [GRCh37]
Chr4:4q35.1
likely benign
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)x1 copy number loss See cases [RCV000449363] Chr4:185381293..190957473 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1 copy number loss See cases [RCV000449221] Chr4:185253508..190713591 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1 copy number loss See cases [RCV000446613] Chr4:175550289..190838582 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)x3 copy number gain See cases [RCV000446235] Chr4:185978583..188762387 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
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_001151.4(SLC25A4):c.375C>T (p.Ala125=) single nucleotide variant not provided [RCV000434856] Chr4:185145027 [GRCh38]
Chr4:186066181 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.515G>T (p.Gly172Val) single nucleotide variant Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive [RCV000681637] Chr4:185145167 [GRCh38]
Chr4:186066321 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1 copy number loss See cases [RCV000445881] Chr4:175749001..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
NM_001151.4(SLC25A4):c.12C>A (p.His4Gln) single nucleotide variant not specified [RCV000425136] Chr4:185143384 [GRCh38]
Chr4:186064538 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.598+16C>T single nucleotide variant not specified [RCV000419294] Chr4:185145266 [GRCh38]
Chr4:186066420 [GRCh37]
Chr4:4q35.1
likely benign
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1 copy number loss See cases [RCV000448048] Chr4:175550289..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q35.1(chr4:185787209-186451149)x3 copy number gain See cases [RCV000447805] Chr4:185787209..186451149 [GRCh37]
Chr4:4q35.1
likely benign
GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3 copy number gain See cases [RCV000448219] Chr4:183959053..186858555 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1 copy number loss See cases [RCV000512074] Chr4:184852835..190957473 [GRCh37]
Chr4:4q35.1-35.2
likely pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain See cases [RCV000510222] Chr4:166436844..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185958310-189223175)x3 copy number gain See cases [RCV000510660] Chr4:185958310..189223175 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2
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 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
GRCh37/hg19 4q35.1(chr4:185979169-186790163)x3 copy number gain See cases [RCV000511113] Chr4:185979169..186790163 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3 copy number gain See cases [RCV000511078] Chr4:176306103..190957473 [GRCh37]
Chr4:4q34.2-35.2
pathogenic
GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3 copy number gain See cases [RCV000510983] Chr4:184870144..186592638 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.267C>T (p.Phe89=) single nucleotide variant not specified [RCV000601586] Chr4:185144919 [GRCh38]
Chr4:186066073 [GRCh37]
Chr4:4q35.1
likely benign
NC_000004.12:g.(?_185143353)_(185535454_?)del deletion Primary dilated cardiomyopathy [RCV000629186] Chr4:185143353..185535454 [GRCh38]
Chr4:186064507..186456608 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.598+18G>C single nucleotide variant not specified [RCV000601506] Chr4:185145268 [GRCh38]
Chr4:186066422 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.867G>T (p.Val289=) single nucleotide variant not specified [RCV000610245] Chr4:185146941 [GRCh38]
Chr4:186068095 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.576C>T (p.Phe192=) single nucleotide variant not provided [RCV001719102] Chr4:185145228 [GRCh38]
Chr4:186066382 [GRCh37]
Chr4:4q35.1
likely benign
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3 copy number gain See cases [RCV000512153] Chr4:180702769..190957473 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2
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_001151.4(SLC25A4):c.579A>G (p.Gly193=) single nucleotide variant not provided [RCV000659008] Chr4:185145231 [GRCh38]
Chr4:186066385 [GRCh37]
Chr4:4q35.1
likely benign
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 copy number loss not provided [RCV000682484] Chr4:169969014..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1 copy number loss not provided [RCV000682492] Chr4:175709188..190957473 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3 copy number gain not provided [RCV000682495] Chr4:178771936..190957473 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3 copy number gain not provided [RCV000682497] Chr4:185017749..190957473 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
Single allele deletion not provided [RCV000677918] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1 copy number loss not provided [RCV000682493] Chr4:176493246..190957473 [GRCh37]
Chr4:4q34.2-35.2
pathogenic
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 4q34.3-35.2(chr4:183157313-191028879)x1 copy number loss not provided [RCV000744206] Chr4:183157313..191028879 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184040122-187880098)x3 copy number gain not provided [RCV000744219] Chr4:184040122..187880098 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:185137253-190915650)x1 copy number loss not provided [RCV000744226] Chr4:185137253..190915650 [GRCh37]
Chr4:4q35.1-35.2
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_001151.4(SLC25A4):c.*994G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001147467] Chr4:185147965 [GRCh38]
Chr4:186069119 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*1217A>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001148393] Chr4:185148188 [GRCh38]
Chr4:186069342 [GRCh37]
Chr4:4q35.1
uncertain significance
null single nucleotide variant not provided [RCV001612161] Chr4:185143813 [GRCh38]
Chr4:186064967 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.455G>T (p.Arg152Leu) single nucleotide variant not provided [RCV000998326] Chr4:185145107 [GRCh38]
Chr4:186066261 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*2802C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145731] Chr4:185149773 [GRCh38]
Chr4:186070927 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) copy number loss not provided [RCV000767673] Chr4:171663620..190431429 [GRCh37]
Chr4:4q33-35.2
pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545) copy number loss not provided [RCV000767793] Chr4:174610492..190427545 [GRCh37]
Chr4:4q34.1-35.2
pathogenic
NM_001151.4(SLC25A4):c.252C>T (p.Thr84=) single nucleotide variant not provided [RCV000874292] Chr4:185144904 [GRCh38]
Chr4:186066058 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.849C>T (p.Gly283=) single nucleotide variant not provided [RCV000875278] Chr4:185146923 [GRCh38]
Chr4:186068077 [GRCh37]
Chr4:4q35.1
likely benign
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1 copy number loss not provided [RCV001005626] Chr4:178566256..190957473 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:166623890..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
NM_001151.4(SLC25A4):c.740-293A>G single nucleotide variant not provided [RCV000833067] Chr4:185146521 [GRCh38]
Chr4:186067675 [GRCh37]
Chr4:4q35.1
benign
GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1 copy number loss not provided [RCV000849865] Chr4:179996712..190957473 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q35.1(chr4:185399884-186542127)x3 copy number gain not provided [RCV000849196] Chr4:185399884..186542127 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1 copy number loss not provided [RCV000846185] Chr4:184648532..190957473 [GRCh37]
Chr4:4q35.1-35.2
pathogenic
NM_001151.4(SLC25A4):c.238C>G (p.Arg80Gly) single nucleotide variant Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant [RCV000785891] Chr4:185144890 [GRCh38]
Chr4:186066044 [GRCh37]
Chr4:4q35.1
likely pathogenic
NM_001151.4(SLC25A4):c.*2150G>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001149955] Chr4:185149121 [GRCh38]
Chr4:186070275 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*3335C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001150074] Chr4:185150306 [GRCh38]
Chr4:186071460 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*3229A>G single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001148504] Chr4:185150200 [GRCh38]
Chr4:186071354 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.111+119C>G single nucleotide variant not provided [RCV000835779] Chr4:185143602 [GRCh38]
Chr4:186064756 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.112-267T>C single nucleotide variant not provided [RCV000832640] Chr4:185144497 [GRCh38]
Chr4:186065651 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*3025G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145732] Chr4:185149996 [GRCh38]
Chr4:186071150 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1 copy number loss not provided [RCV000998343] Chr4:183245174..190948359 [GRCh37]
Chr4:4q35.1-35.2
likely pathogenic
NM_001151.4(SLC25A4):c.*571T>G single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001147465] Chr4:185147542 [GRCh38]
Chr4:186068696 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q35.1(chr4:185874622-186167917)x3 copy number gain not provided [RCV001005632] Chr4:185874622..186167917 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1 copy number loss not provided [RCV000846268] Chr4:177189906..190816266 [GRCh37]
Chr4:4q34.2-35.2
pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:169607746..190957473 [GRCh37]
Chr4:4q32.3-35.2
pathogenic
GRCh37/hg19 4q35.1(chr4:186031029-186490645)x3 copy number gain not provided [RCV000849688] Chr4:186031029..186490645 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2
pathogenic
NM_001151.4(SLC25A4):c.*2510T>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145620] Chr4:185149481 [GRCh38]
Chr4:186070635 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*2616C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145621] Chr4:185149587 [GRCh38]
Chr4:186070741 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.731G>A (p.Arg244Gln) single nucleotide variant Family history of sudden cardiac death [RCV000852559] Chr4:185145891 [GRCh38]
Chr4:186067045 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*2363G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001149956] Chr4:185149334 [GRCh38]
Chr4:186070488 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.-65C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001148285] Chr4:185143308 [GRCh38]
Chr4:186064462 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*3264G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001148505] Chr4:185150235 [GRCh38]
Chr4:186071389 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q35.1(chr4:185779167-186206723)x3 copy number gain not provided [RCV001005630] Chr4:185779167..186206723 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.111+123CGCC[5] microsatellite not provided [RCV001533896] Chr4:185143606..185143609 [GRCh38]
Chr4:186064760..186064763 [GRCh37]
Chr4:4q35.1
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) microsatellite not provided [RCV001687812] Chr4:185143606..185143617 [GRCh38]
Chr4:186064760..186064771 [GRCh37]
Chr4:4q35.1
benign
NM_194248.3(OTOF):c.2076G>T (p.Arg692=) duplication not provided [RCV001719643] Chr4:185144690..185144691 [GRCh38]
Chr4:186065844..186065845 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn) single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001196354]|Restrictive cardiomyopathy [RCV000852560] Chr4:185146816 [GRCh38]
Chr4:186067970 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.349C>T (p.Leu117=) single nucleotide variant not provided [RCV000910798] Chr4:185145001 [GRCh38]
Chr4:186066155 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.663G>A (p.Thr221=) single nucleotide variant not provided [RCV000980816] Chr4:185145823 [GRCh38]
Chr4:186066977 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.627C>T (p.His209=) single nucleotide variant not provided [RCV000940523] Chr4:185145787 [GRCh38]
Chr4:186066941 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.*2618C>G single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145622] Chr4:185149589 [GRCh38]
Chr4:186070743 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*1546T>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001148394] Chr4:185148517 [GRCh38]
Chr4:186069671 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3 copy number gain not provided [RCV001005627] Chr4:179752903..187987047 [GRCh37]
Chr4:4q34.3-35.2
pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3 copy number gain not provided [RCV001005631] Chr4:185785184..188207908 [GRCh37]
Chr4:4q35.1-35.2
uncertain significance
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677954] Chr4:185143107 [GRCh38]
Chr4:186064261 [GRCh37]
Chr4:4q35.1
benign
null single nucleotide variant not provided [RCV001596092] Chr4:185142931 [GRCh38]
Chr4:186064085 [GRCh37]
Chr4:4q35.1
likely benign
NM_001151.4(SLC25A4):c.*2475C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001149957] Chr4:185149446 [GRCh38]
Chr4:186070600 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*3336G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001150075] Chr4:185150307 [GRCh38]
Chr4:186071461 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*151T>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145511] Chr4:185147122 [GRCh38]
Chr4:186068276 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*482G>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145514] Chr4:185147453 [GRCh38]
Chr4:186068607 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*2499G>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145619] Chr4:185149470 [GRCh38]
Chr4:186070624 [GRCh37]
Chr4:4q35.1
uncertain significance
null single nucleotide variant not provided [RCV001590224] Chr4:185144664 [GRCh38]
Chr4:186065818 [GRCh37]
Chr4:4q35.1
likely benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001714830] Chr4:185143080 [GRCh38]
Chr4:186064234 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*2697T>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145623] Chr4:185149668 [GRCh38]
Chr4:186070822 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*3317G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001148506] Chr4:185150288 [GRCh38]
Chr4:186071442 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*277C>T single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145512] Chr4:185147248 [GRCh38]
Chr4:186068402 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*448G>A single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001145513] Chr4:185147419 [GRCh38]
Chr4:186068573 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*3394A>G single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001150076] Chr4:185150365 [GRCh38]
Chr4:186071519 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q35.1(chr4:186008401-186265992)x3 copy number gain not provided [RCV001005633] Chr4:186008401..186265992 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*655G>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001147466] Chr4:185147626 [GRCh38]
Chr4:186068780 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.*3110G>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001148502] Chr4:185150081 [GRCh38]
Chr4:186071235 [GRCh37]
Chr4:4q35.1
benign
NM_001151.4(SLC25A4):c.*3195T>C single nucleotide variant Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 [RCV001148503] Chr4:185150166 [GRCh38]
Chr4:186071320 [GRCh37]
Chr4:4q35.1
uncertain significance
GRCh37/hg19 4q35.1(chr4:185745161-186099203)x3 copy number gain not provided [RCV001259892] Chr4:185745161..186099203 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.256_263del (p.Ala86fs) deletion none provided [RCV001286851] Chr4:185144905..185144912 [GRCh38]
Chr4:186066059..186066066 [GRCh37]
Chr4:4q35.1
likely pathogenic
NM_001151.4(SLC25A4):c.874G>C (p.Asp292His) single nucleotide variant Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant [RCV001336255] Chr4:185146948 [GRCh38]
Chr4:186068102 [GRCh37]
Chr4:4q35.1
uncertain significance
NM_001151.4(SLC25A4):c.112-91dup duplication not provided [RCV001540068] Chr4:185144663..185144664 [GRCh38]
Chr4:186065817..186065818 [GRCh37]
Chr4:4q35.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10990 AgrOrtholog
COSMIC SLC25A4 COSMIC
Ensembl Genes ENSG00000151729 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000281456 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000476711 UniProtKB/TrEMBL
Ensembl Transcript ENST00000281456 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000491736 UniProtKB/TrEMBL
Gene3D-CATH 1.50.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000151729 GTEx
HGNC ID HGNC:10990 ENTREZGENE
Human Proteome Map SLC25A4 Human Proteome Map
InterPro Aden_trnslctor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mit_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mitochondrial_sb/sol_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mt_carrier_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:291 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 291 ENTREZGENE
OMIM 103220 OMIM
  609283 OMIM
  615418 OMIM
  617184 OMIM
PANTHER PTHR45635 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mito_carr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35866 PharmGKB
PRINTS ADPTRNSLCASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MITOCARRIER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SOLCAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103506 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z359_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3C4_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3H3 ENTREZGENE, UniProtKB/TrEMBL
  ADT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  V9GYG0_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DP59 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC25A4  solute carrier family 25 member 4    solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4  Symbol and/or name change 5135510 APPROVED