ACO2 (aconitase 2) - Rat Genome Database

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Gene: ACO2 (aconitase 2) Homo sapiens
Analyze
Symbol: ACO2
Name: aconitase 2
RGD ID: 733187
HGNC Page HGNC
Description: Enables aconitate hydratase activity and iron ion binding activity. Acts upstream of or within citrate metabolic process and tricarboxylic acid cycle. Located in mitochondrion. Implicated in infantile cerebellar-retinal degeneration and optic atrophy 9.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: aconitase 2, mitochondrial; aconitate hydratase, mitochondrial; ACONM; citrate hydro-lyase; epididymis secretory sperm binding protein Li 284; HEL-S-284; ICRD; MGC20605; MGC33908; mitochondrial aconitase; mitochondrial aconitase (nuclear aco2 gene); OCA8; OPA9
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AL021877.1   AP004289.1   LOC343508  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,447,830 - 41,529,273 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,468,756 - 41,528,979 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,865,121 - 41,924,978 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,195,075 - 40,254,939 (+)NCBINCBI36hg18NCBI36
Build 342240,189,628 - 40,249,492NCBI
Celera2225,671,513 - 25,731,364 (+)NCBI
Cytogenetic Map22q13.2ENTREZGENE
HuRef2224,830,931 - 24,890,807 (+)NCBIHuRef
CHM1_12241,825,012 - 41,884,897 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-adrenaline  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-hexanedione  (ISO)
2,6-dinitrotoluene  (ISO)
3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-Cyano-7-nitroquinoxaline-2,3-dione  (ISO)
6-propyl-2-thiouracil  (ISO)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
alatrofloxacin  (ISO)
aldehydo-D-glucose  (ISO)
aluminium atom  (EXP,ISO)
aluminium(0)  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (ISO)
Brodifacoum  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (ISO)
citric acid  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
curcumin  (ISO)
D-glucose  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
ethanol  (ISO)
fenofibrate  (EXP)
ferric ammonium citrate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
glucose  (ISO)
gold atom  (EXP,ISO)
gold(0)  (EXP,ISO)
hemin  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
hydroxyl  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
ivermectin  (EXP)
kainic acid  (ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
leflunomide  (ISO)
linalool  (EXP)
maneb  (ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (EXP,ISO)
menadione  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nicardipine  (ISO)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
nimesulide  (ISO)
nitroprusside  (ISO)
omeprazole  (ISO)
oxybenzone  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
pirinixic acid  (ISO)
potassium atom  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
pyridaben  (ISO)
reactive oxygen species  (EXP)
rotenone  (EXP,ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
selenium atom  (EXP)
selenomethionine  (EXP)
sevoflurane  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
superoxide  (ISO)
T-2 toxin  (ISO)
tebufenpyrad  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
tributylstannane  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
zinc atom  (ISO)
zinc dichloride  (EXP)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IBA)
mitochondrial matrix  (TAS)
mitochondrion  (HDA,IBA,IEA,ISO)

Molecular Function

References

Additional References at PubMed
PMID:752476   PMID:752478   PMID:752479   PMID:879710   PMID:1052766   PMID:1602151   PMID:1946331   PMID:7192199   PMID:8443405   PMID:9020582   PMID:9630632   PMID:10591208  
PMID:11258795   PMID:12198491   PMID:12477932   PMID:12601813   PMID:12746427   PMID:14972331   PMID:15461802   PMID:15489334   PMID:15952740   PMID:16159877   PMID:16236267   PMID:16598741  
PMID:16625280   PMID:16713569   PMID:18029348   PMID:19110265   PMID:19405953   PMID:19524665   PMID:19738201   PMID:20301317   PMID:20607720   PMID:20833797   PMID:20877624   PMID:21832049  
PMID:21873635   PMID:22405087   PMID:22623428   PMID:22939629   PMID:23550275   PMID:23709747   PMID:24337577   PMID:24429287   PMID:24785945   PMID:24981860   PMID:25322927   PMID:25351951  
PMID:25921289   PMID:26058080   PMID:26344197   PMID:26839216   PMID:27684187   PMID:28298427   PMID:28302793   PMID:28380382   PMID:28814227   PMID:29117863   PMID:29128334   PMID:29160844  
PMID:29467282   PMID:29507755   PMID:29564676   PMID:29568061   PMID:30021884   PMID:30118607   PMID:30196744   PMID:30463901   PMID:30575818   PMID:30689204   PMID:30948266   PMID:30972978  
PMID:31056398   PMID:31478661   PMID:31536960   PMID:31586073   PMID:31819175   PMID:32249333   PMID:32449285   PMID:32519519   PMID:32694731   PMID:32877691   PMID:33022573   PMID:33028849  
PMID:33845483   PMID:34079125  


Genomics

Comparative Map Data
ACO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,447,830 - 41,529,273 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,468,756 - 41,528,979 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,865,121 - 41,924,978 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,195,075 - 40,254,939 (+)NCBINCBI36hg18NCBI36
Build 342240,189,628 - 40,249,492NCBI
Celera2225,671,513 - 25,731,364 (+)NCBI
Cytogenetic Map22q13.2ENTREZGENE
HuRef2224,830,931 - 24,890,807 (+)NCBIHuRef
CHM1_12241,825,012 - 41,884,897 (+)NCBICHM1_1
Aco2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391581,756,664 - 81,799,338 (+)NCBIGRCm39mm39
GRCm39 Ensembl1581,756,510 - 81,799,334 (+)Ensembl
GRCm381581,872,463 - 81,915,137 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1581,872,309 - 81,915,133 (+)EnsemblGRCm38mm10GRCm38
MGSCv371581,702,893 - 81,745,567 (+)NCBIGRCm37mm9NCBIm37
MGSCv361581,699,718 - 81,742,392 (+)NCBImm8
Celera1583,991,539 - 84,036,379 (+)NCBICelera
Cytogenetic Map15E1NCBI
Aco2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,385,677 - 113,428,794 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,385,646 - 113,428,261 (+)Ensembl
Rnor_6.07123,102,493 - 123,145,608 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,102,468 - 123,145,635 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,077,888 - 123,121,003 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,223,788 - 120,266,944 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17120,258,017 - 120,301,166 (+)NCBI
Celera7109,704,354 - 109,747,462 (+)NCBICelera
Cytogenetic Map7q34NCBI
Aco2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,027,341 - 27,065,227 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,027,341 - 27,065,227 (+)NCBIChiLan1.0ChiLan1.0
ACO2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12240,450,276 - 40,510,200 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2240,450,276 - 40,510,200 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02222,363,178 - 22,423,041 (+)NCBIMhudiblu_PPA_v0panPan3
ACO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,742,284 - 23,798,580 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,742,333 - 23,798,498 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,674,973 - 23,731,276 (-)NCBI
ROS_Cfam_1.01024,487,132 - 24,543,453 (-)NCBI
UMICH_Zoey_3.11024,203,926 - 24,260,231 (-)NCBI
UNSW_CanFamBas_1.01024,525,094 - 24,581,120 (-)NCBI
UU_Cfam_GSD_1.01024,699,242 - 24,755,563 (-)NCBI
Aco2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,397,068 - 7,442,218 (-)NCBI
SpeTri2.0NW_004936492407,482 - 452,538 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACO2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl57,002,124 - 7,070,999 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.157,014,383 - 7,071,023 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.254,385,951 - 4,443,595 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACO2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,008,602 - 24,068,346 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1924,008,667 - 24,071,356 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666045101,348,982 - 101,410,178 (-)NCBIVero_WHO_p1.0
Aco2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247527,074,148 - 7,113,773 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D22S1253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,924,725 - 41,924,830UniSTSGRCh37
Build 362240,254,671 - 40,254,776RGDNCBI36
Celera2225,731,096 - 25,731,201RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,890,539 - 24,890,644UniSTS
RH47879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,917,462 - 41,917,631UniSTSGRCh37
Build 362240,247,408 - 40,247,577RGDNCBI36
Celera2225,723,833 - 25,724,002RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,883,276 - 24,883,445UniSTS
GeneMap99-GB4 RH Map22127.47UniSTS
RH11380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,911,903 - 41,911,983UniSTSGRCh37
Build 362240,241,849 - 40,241,929RGDNCBI36
Celera2225,718,274 - 25,718,354RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,877,717 - 24,877,797UniSTS
RH11189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,924,800 - 41,924,927UniSTSGRCh37
Build 362240,254,746 - 40,254,873RGDNCBI36
Celera2225,731,171 - 25,731,298RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,890,614 - 24,890,741UniSTS
GDB:451682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371236,274,703 - 236,274,873UniSTSGRCh37
GRCh372241,919,834 - 41,920,908UniSTSGRCh37
Build 361234,341,326 - 234,341,496RGDNCBI36
Celera2225,726,205 - 25,727,279UniSTS
Celera1209,524,092 - 209,524,262RGD
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
HuRef2224,885,648 - 24,886,722UniSTS
HuRef1206,732,580 - 206,732,750UniSTS
A007B26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,921,894 - 41,922,048UniSTSGRCh37
Build 362240,251,840 - 40,251,994RGDNCBI36
Celera2225,728,265 - 25,728,419RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,887,708 - 24,887,862UniSTS
GeneMap99-GB4 RH Map22126.85UniSTS
D22S998E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,924,909 - 41,925,086UniSTSGRCh37
Build 362240,254,855 - 40,255,032RGDNCBI36
Celera2225,731,280 - 25,731,457RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,890,723 - 24,890,900UniSTS
GeneMap99-GB4 RH Map22127.53UniSTS
D22S678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,876,085 - 41,876,289UniSTSGRCh37
Build 362240,206,031 - 40,206,235RGDNCBI36
Celera2225,682,454 - 25,682,658RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,841,869 - 24,842,073UniSTS
Stanford-G3 RH Map221376.0UniSTS
MARC_5597-5598:1044046898:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,923,969 - 41,924,560UniSTSGRCh37
Build 362240,253,915 - 40,254,506RGDNCBI36
Celera2225,730,340 - 25,730,931RGD
HuRef2224,889,783 - 24,890,374UniSTS
RH48483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,921,251 - 41,922,347UniSTSGRCh37
Celera2225,727,622 - 25,728,718UniSTS
Cytogenetic Map22q13.2UniSTS
HuRef2224,887,065 - 24,888,161UniSTS
GeneMap99-GB4 RH Map22126.64UniSTS
NCBI RH Map22195.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1685
Count of miRNA genes:763
Interacting mature miRNAs:901
Transcripts:ENST00000216254, ENST00000396512, ENST00000466237, ENST00000471094, ENST00000478010, ENST00000481310, ENST00000482208
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2437 2785 1680 581 1801 422 4357 2142 3723 414 1454 1609 175 1 1204 2788 6 2
Low 2 206 46 43 150 43 55 11 5 6 4
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA724140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ472196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000216254   ⟹   ENSP00000216254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,528,974 (+)Ensembl
RefSeq Acc Id: ENST00000396512   ⟹   ENSP00000379769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,130 - 41,528,989 (+)Ensembl
RefSeq Acc Id: ENST00000466237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,521,590 (+)Ensembl
RefSeq Acc Id: ENST00000471094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,160 - 41,511,966 (+)Ensembl
RefSeq Acc Id: ENST00000478010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,508,015 - 41,516,123 (+)Ensembl
RefSeq Acc Id: ENST00000481310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,515,513 - 41,517,452 (+)Ensembl
RefSeq Acc Id: ENST00000482208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,507,838 - 41,512,287 (+)Ensembl
RefSeq Acc Id: ENST00000676664   ⟹   ENSP00000503709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,499,744 - 41,529,273 (+)Ensembl
RefSeq Acc Id: ENST00000676714   ⟹   ENSP00000504699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,528,974 (+)Ensembl
RefSeq Acc Id: ENST00000676748   ⟹   ENSP00000503371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,447,830 - 41,529,273 (+)Ensembl
RefSeq Acc Id: ENST00000676792   ⟹   ENSP00000503590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,529,273 (+)Ensembl
RefSeq Acc Id: ENST00000676822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,485,666 - 41,529,273 (+)Ensembl
RefSeq Acc Id: ENST00000676883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,523,354 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000676959   ⟹   ENSP00000504377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000677007   ⟹   ENSP00000504634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000677153   ⟹   ENSP00000504453
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,128 - 41,529,273 (+)Ensembl
RefSeq Acc Id: ENST00000677427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,520,815 (+)Ensembl
RefSeq Acc Id: ENST00000677492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,516,582 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000677516   ⟹   ENSP00000503370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000677532   ⟹   ENSP00000503471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,137 - 41,529,273 (+)Ensembl
RefSeq Acc Id: ENST00000677554   ⟹   ENSP00000504513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,106 - 41,528,984 (+)Ensembl
RefSeq Acc Id: ENST00000677698   ⟹   ENSP00000503913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,367 - 41,529,273 (+)Ensembl
RefSeq Acc Id: ENST00000678269   ⟹   ENSP00000504150
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,130 - 41,528,989 (+)Ensembl
RefSeq Acc Id: ENST00000678394
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,112 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000678454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,519,473 (+)Ensembl
RefSeq Acc Id: ENST00000678600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,106 - 41,528,979 (+)Ensembl
RefSeq Acc Id: ENST00000678688   ⟹   ENSP00000503990
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000678788   ⟹   ENSP00000504684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000678819   ⟹   ENSP00000503199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,128 - 41,529,273 (+)Ensembl
RefSeq Acc Id: ENST00000679264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,307 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000679284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,522,016 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000679311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,117 - 41,529,267 (+)Ensembl
RefSeq Acc Id: ENST00000679320   ⟹   ENSP00000504780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,469,106 - 41,528,984 (+)Ensembl
RefSeq Acc Id: NM_001098   ⟹   NP_001089
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,469,117 - 41,528,974 (+)NCBI
GRCh372241,865,099 - 41,924,993 (+)NCBI
Build 362240,195,075 - 40,254,939 (+)NCBI Archive
HuRef2224,830,931 - 24,890,807 (+)ENTREZGENE
CHM1_12241,825,012 - 41,884,897 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017028812   ⟹   XP_016884301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,469,137 - 41,528,979 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452250   ⟹   XP_024308018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,468,756 - 41,528,979 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001089   ⟸   NM_001098
- Peptide Label: precursor
- UniProtKB: Q99798 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884301   ⟸   XM_017028812
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308018   ⟸   XM_024452250
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000216254   ⟸   ENST00000216254
RefSeq Acc Id: ENSP00000379769   ⟸   ENST00000396512
RefSeq Acc Id: ENSP00000504377   ⟸   ENST00000676959
RefSeq Acc Id: ENSP00000504699   ⟸   ENST00000676714
RefSeq Acc Id: ENSP00000503371   ⟸   ENST00000676748
RefSeq Acc Id: ENSP00000503590   ⟸   ENST00000676792
RefSeq Acc Id: ENSP00000503709   ⟸   ENST00000676664
RefSeq Acc Id: ENSP00000504453   ⟸   ENST00000677153
RefSeq Acc Id: ENSP00000504634   ⟸   ENST00000677007
RefSeq Acc Id: ENSP00000503370   ⟸   ENST00000677516
RefSeq Acc Id: ENSP00000503471   ⟸   ENST00000677532
RefSeq Acc Id: ENSP00000504513   ⟸   ENST00000677554
RefSeq Acc Id: ENSP00000503913   ⟸   ENST00000677698
RefSeq Acc Id: ENSP00000504150   ⟸   ENST00000678269
RefSeq Acc Id: ENSP00000503199   ⟸   ENST00000678819
RefSeq Acc Id: ENSP00000504684   ⟸   ENST00000678788
RefSeq Acc Id: ENSP00000503990   ⟸   ENST00000678688
RefSeq Acc Id: ENSP00000504780   ⟸   ENST00000679320
Protein Domains
Aconitase   Aconitase_C

Promoters
RGD ID:6799654
Promoter ID:HG_KWN:42986
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:NM_001098,   OTTHUMT00000259153,   OTTHUMT00000320686,   OTTHUMT00000320687,   OTTHUMT00000320688,   UC003BAD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,193,851 - 40,195,152 (+)MPROMDB
RGD ID:13604260
Promoter ID:EPDNEW_H28314
Type:initiation region
Name:ACO2_1
Description:aconitase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28310  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,469,117 - 41,469,177EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001098.3(ACO2):c.336C>G (p.Ser112Arg) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000022421] Chr22:41507953 [GRCh38]
Chr22:41903957 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.174-52G>T single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001548940]|Optic atrophy 9 [RCV001548832]|not provided [RCV001647411] Chr22:41507739 [GRCh38]
Chr22:41903743 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1091T>C (p.Val364Ala) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001449910] Chr22:41520229 [GRCh38]
Chr22:41916233 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.1285C>T (p.Arg429Trp) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000723352] Chr22:41522976 [GRCh38]
Chr22:41918980 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_001098.3(ACO2):c.1776T>C (p.Cys592=) single nucleotide variant not provided [RCV000054662] Chr22:41526276 [GRCh38]
Chr22:41922280 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1927G>A (p.Val643Ile) single nucleotide variant not provided [RCV000054663] Chr22:41526427 [GRCh38]
Chr22:41922431 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.250C>T (p.Arg84Ter) single nucleotide variant not provided [RCV000054664] Chr22:41507867 [GRCh38]
Chr22:41903871 [GRCh37]
Chr22:22q13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001098.3(ACO2):c.192A>C (p.Thr64=) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001548942]|Optic atrophy 9 [RCV001548941]|not provided [RCV000676883]|not specified [RCV000116216] Chr22:41507809 [GRCh38]
Chr22:41903813 [GRCh37]
Chr22:22q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001098.3(ACO2):c.670C>T (p.Leu224=) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001548944]|Optic atrophy 9 [RCV001548943]|not provided [RCV000676885]|not specified [RCV000116217] Chr22:41515521 [GRCh38]
Chr22:41911525 [GRCh37]
Chr22:22q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001098.3(ACO2):c.486C>T (p.Gly162=) single nucleotide variant not provided [RCV000965504]|not specified [RCV000123481] Chr22:41511929 [GRCh38]
Chr22:41907933 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1032+17C>T single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001548950]|Optic atrophy 9 [RCV001548949]|not provided [RCV001515839]|not specified [RCV000123483] Chr22:41518589 [GRCh38]
Chr22:41914593 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1954-13G>A single nucleotide variant not provided [RCV001519309]|not specified [RCV000123484] Chr22:41527275 [GRCh38]
Chr22:41923279 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1954-12C>T single nucleotide variant not provided [RCV001513353]|not specified [RCV000123485] Chr22:41527276 [GRCh38]
Chr22:41923280 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1980C>T (p.Ile660=) single nucleotide variant not provided [RCV000889329]|not specified [RCV000123486] Chr22:41527314 [GRCh38]
Chr22:41923318 [GRCh37]
Chr22:22q13.2
benign
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000202542]|not provided [RCV001550253] Chr22:41527949 [GRCh38]
Chr22:41923953 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000202502] Chr22:41526319 [GRCh38]
Chr22:41922323 [GRCh37]
Chr22:22q13.2
pathogenic|likely pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000764399]|Infantile cerebellar-retinal degeneration [RCV000990458]|Optic atrophy 9 [RCV000169730]|not provided [RCV000676884] Chr22:41507837 [GRCh38]
Chr22:41903841 [GRCh37]
Chr22:22q13.2
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001098.3(ACO2):c.1981G>A (p.Gly661Arg) single nucleotide variant Optic atrophy 9 [RCV000169731] Chr22:41527315 [GRCh38]
Chr22:41923319 [GRCh37]
Chr22:22q13.2
pathogenic|not provided
NM_001098.3(ACO2):c.776G>A (p.Gly259Asp) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000169732] Chr22:41515858 [GRCh38]
Chr22:41911862 [GRCh37]
Chr22:22q13.2
pathogenic|not provided
NM_001098.3(ACO2):c.2208G>C (p.Lys736Asn) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000169733] Chr22:41528022 [GRCh38]
Chr22:41924026 [GRCh37]
Chr22:22q13.2
pathogenic|not provided
NM_001098.3(ACO2):c.2328_2331del (p.Lys776fs) deletion Infantile cerebellar-retinal degeneration [RCV000169734] Chr22:41528595..41528598 [GRCh38]
Chr22:41924599..41924602 [GRCh37]
Chr22:22q13.2
pathogenic|not provided
NM_001098.3(ACO2):c.684+1G>T single nucleotide variant not provided [RCV000200546] Chr22:41515536 [GRCh38]
Chr22:41911540 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.425G>A (p.Arg142Gln) single nucleotide variant not provided [RCV000196805] Chr22:41508042 [GRCh38]
Chr22:41904046 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000764400]|Infantile cerebellar-retinal degeneration [RCV001333751]|Optic atrophy 9 [RCV001197153]|Retinal dystrophy [RCV001073882]|not provided [RCV000196947] Chr22:41515801 [GRCh38]
Chr22:41911805 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1279A>G (p.Ile427Val) single nucleotide variant not provided [RCV000197765] Chr22:41522970 [GRCh38]
Chr22:41918974 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1802G>A (p.Gly601Asp) single nucleotide variant not provided [RCV000197903] Chr22:41526302 [GRCh38]
Chr22:41922306 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.951T>A (p.Asn317Lys) single nucleotide variant not specified [RCV000198530] Chr22:41518491 [GRCh38]
Chr22:41914495 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000764401]|Infantile cerebellar-retinal degeneration [RCV001332804]|not provided [RCV000198947] Chr22:41527385 [GRCh38]
Chr22:41923389 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.487G>T (p.Val163Leu) single nucleotide variant not provided [RCV000199359] Chr22:41511930 [GRCh38]
Chr22:41907934 [GRCh37]
Chr22:22q13.2
likely pathogenic|uncertain significance
NM_001098.3(ACO2):c.1049A>G (p.Asn350Ser) single nucleotide variant not provided [RCV001517898] Chr22:41520187 [GRCh38]
Chr22:41916191 [GRCh37]
Chr22:22q13.2
benign|uncertain significance
NM_001098.2(ACO2):c.740T>C (p.Val247Ala) single nucleotide variant not specified [RCV000199500] Chr22:41515822 [GRCh38]
Chr22:41911826 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2292G>C (p.Glu764Asp) single nucleotide variant not provided [RCV000196045] Chr22:41528562 [GRCh38]
Chr22:41924566 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1722G>C (p.Trp574Cys) single nucleotide variant Inborn genetic diseases [RCV000210632] Chr22:41525309 [GRCh38]
Chr22:41921313 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.1181G>A (p.Gly394Glu) single nucleotide variant Inborn genetic diseases [RCV000210720] Chr22:41522872 [GRCh38]
Chr22:41918876 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.718G>A (p.Gly240Ser) single nucleotide variant not provided [RCV000224671] Chr22:41515800 [GRCh38]
Chr22:41911804 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1558A>C (p.Lys520Gln) single nucleotide variant not provided [RCV001367970] Chr22:41524921 [GRCh38]
Chr22:41920925 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.84A>G (p.Gln28=) single nucleotide variant not provided [RCV001510982]|not specified [RCV000248667] Chr22:41499773 [GRCh38]
Chr22:41895777 [GRCh37]
Chr22:22q13.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
NM_001098.3(ACO2):c.1370+48A>G single nucleotide variant Optic atrophy 9 [RCV001548951]|not provided [RCV001615292] Chr22:41523326 [GRCh38]
Chr22:41919330 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_001098.3(ACO2):c.72A>G (p.Ser24=) single nucleotide variant not provided [RCV001465573]|not specified [RCV000243285] Chr22:41499761 [GRCh38]
Chr22:41895765 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1953+16T>C single nucleotide variant not specified [RCV000243408] Chr22:41526469 [GRCh38]
Chr22:41922473 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.546G>T (p.Ala182=) single nucleotide variant not provided [RCV001485945]|not specified [RCV000248360] Chr22:41515397 [GRCh38]
Chr22:41911401 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.98C>T (p.Ala33Val) single nucleotide variant not provided [RCV000489170] Chr22:41499787 [GRCh38]
Chr22:41895791 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1286G>A (p.Arg429Gln) single nucleotide variant not provided [RCV001367834] Chr22:41522977 [GRCh38]
Chr22:41918981 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2062A>T (p.Thr688Ser) single nucleotide variant not provided [RCV000490054] Chr22:41527396 [GRCh38]
Chr22:41923400 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2105_2106del (p.Gln702fs) deletion Inborn genetic diseases [RCV000622389]|not provided [RCV001342980] Chr22:41527919..41527920 [GRCh38]
Chr22:41923923..41923924 [GRCh37]
Chr22:22q13.2
pathogenic|uncertain significance
NM_001098.3(ACO2):c.1954-17C>T single nucleotide variant not specified [RCV000604683] Chr22:41527271 [GRCh38]
Chr22:41923275 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2208+11C>T single nucleotide variant not specified [RCV000599699] Chr22:41528033 [GRCh38]
Chr22:41924037 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.76C>T (p.Leu26=) single nucleotide variant Global developmental delay [RCV000414995]|Optic atrophy 9 [RCV001196239] Chr22:41499765 [GRCh38]
Chr22:41895769 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.75C>T (p.Val25=) single nucleotide variant Global developmental delay [RCV000415199]|Optic atrophy 9 [RCV001196240] Chr22:41499764 [GRCh38]
Chr22:41895768 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1397A>C (p.Asn466Thr) single nucleotide variant Global developmental delay [RCV000415254] Chr22:41523856 [GRCh38]
Chr22:41919860 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1395G>C (p.Lys465Asn) single nucleotide variant Global developmental delay [RCV000415400] Chr22:41523854 [GRCh38]
Chr22:41919858 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.573T>C (p.Thr191=) single nucleotide variant not provided [RCV000889891]|not specified [RCV000424024] Chr22:41515424 [GRCh38]
Chr22:41911428 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2226C>T (p.Ile742=) single nucleotide variant not provided [RCV000982452]|not specified [RCV000445332] Chr22:41528496 [GRCh38]
Chr22:41924500 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1605+12C>T single nucleotide variant not provided [RCV001513280]|not specified [RCV000434733] Chr22:41524980 [GRCh38]
Chr22:41920984 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1605+7G>A single nucleotide variant not provided [RCV000905575]|not specified [RCV000434845] Chr22:41524975 [GRCh38]
Chr22:41920979 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_001098.3(ACO2):c.2153T>C (p.Ile718Thr) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000681652] Chr22:41527967 [GRCh38]
Chr22:41923971 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2136G>A (p.Pro712=) single nucleotide variant not specified [RCV000428116] Chr22:41527950 [GRCh38]
Chr22:41923954 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2127C>T (p.Phe709=) single nucleotide variant not provided [RCV000897422] Chr22:41527941 [GRCh38]
Chr22:41923945 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_001098.3(ACO2):c.1033-9T>G single nucleotide variant not specified [RCV000418960] Chr22:41520162 [GRCh38]
Chr22:41916166 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.836-14C>T single nucleotide variant not specified [RCV000422472] Chr22:41517513 [GRCh38]
Chr22:41913517 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.432+19T>C single nucleotide variant not provided [RCV001523761]|not specified [RCV000440187] Chr22:41508068 [GRCh38]
Chr22:41904072 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.231C>T (p.Pro77=) single nucleotide variant not provided [RCV000883108]|not specified [RCV000429948] Chr22:41507848 [GRCh38]
Chr22:41903852 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.685-16G>A single nucleotide variant not provided [RCV001472271]|not specified [RCV000422993] Chr22:41515751 [GRCh38]
Chr22:41911755 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1033-20T>C single nucleotide variant not specified [RCV000430507] Chr22:41520151 [GRCh38]
Chr22:41916155 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1032+17C>G single nucleotide variant not specified [RCV000440806] Chr22:41518589 [GRCh38]
Chr22:41914593 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.120C>T (p.Asn40=) single nucleotide variant not provided [RCV000910116]|not specified [RCV000440823] Chr22:41499809 [GRCh38]
Chr22:41895813 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_001098.3(ACO2):c.714C>T (p.Leu238=) single nucleotide variant not provided [RCV001452487]|not specified [RCV000427109] Chr22:41515796 [GRCh38]
Chr22:41911800 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.433-2_433-1delinsTC indel not provided [RCV000479305] Chr22:41511874..41511875 [GRCh38]
Chr22:41907878..41907879 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.719G>A (p.Gly240Asp) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001255995]|not provided [RCV000481524] Chr22:41515801 [GRCh38]
Chr22:41911805 [GRCh37]
Chr22:22q13.2
pathogenic|uncertain significance
NM_001098.3(ACO2):c.2209C>A (p.Pro737Thr) single nucleotide variant not provided [RCV000481661] Chr22:41528479 [GRCh38]
Chr22:41924483 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.172C>T (p.Arg58Ter) single nucleotide variant ACO2-related disorder [RCV000509125] Chr22:41499861 [GRCh38]
Chr22:41895865 [GRCh37]
Chr22:22q13.2
not provided
NM_001098.3(ACO2):c.590A>G (p.Asn197Ser) single nucleotide variant ACO2-related disorders [RCV000509319] Chr22:41515441 [GRCh38]
Chr22:41911445 [GRCh37]
Chr22:22q13.2
not provided
NM_001098.3(ACO2):c.34C>T (p.Gln12Ter) single nucleotide variant not provided [RCV000494423] Chr22:41469180 [GRCh38]
Chr22:41865184 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.2338_2339del (p.Gln780fs) deletion Infantile cerebellar-retinal degeneration [RCV000491582] Chr22:41528607..41528608 [GRCh38]
Chr22:41924611..41924612 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.2007G>C (p.Ser669=) single nucleotide variant not specified [RCV000601456] Chr22:41527341 [GRCh38]
Chr22:41923345 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1550C>T (p.Thr517Met) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000626181]|not provided [RCV001355735] Chr22:41524913 [GRCh38]
Chr22:41920917 [GRCh37]
Chr22:22q13.2
likely pathogenic|uncertain significance
NM_001098.3(ACO2):c.1038G>A (p.Lys346=) single nucleotide variant not provided [RCV000907212] Chr22:41520176 [GRCh38]
Chr22:41916180 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.633C>T (p.Ala211=) single nucleotide variant not provided [RCV001438744]|not specified [RCV000616166] Chr22:41515484 [GRCh38]
Chr22:41911488 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.282C>T (p.Asp94=) single nucleotide variant not provided [RCV000902600]|not specified [RCV000607953] Chr22:41507899 [GRCh38]
Chr22:41903903 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2087-13G>A single nucleotide variant not provided [RCV001520421] Chr22:41527888 [GRCh38]
Chr22:41923892 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_001098.3(ACO2):c.1770G>A (p.Gly590=) single nucleotide variant not specified [RCV000604662] Chr22:41526270 [GRCh38]
Chr22:41922274 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1482+17G>A single nucleotide variant not specified [RCV000609248] Chr22:41523958 [GRCh38]
Chr22:41919962 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.526-15T>G single nucleotide variant not specified [RCV000604797] Chr22:41515362 [GRCh38]
Chr22:41911366 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.988C>T (p.Pro330Ser) single nucleotide variant Inborn genetic diseases [RCV000623498]|not provided [RCV001555479] Chr22:41518528 [GRCh38]
Chr22:41914532 [GRCh37]
Chr22:22q13.2
likely pathogenic|uncertain significance
NM_001098.3(ACO2):c.2301C>T (p.Arg767=) single nucleotide variant not provided [RCV001445490]|not specified [RCV000600800] Chr22:41528571 [GRCh38]
Chr22:41924575 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.987C>T (p.Asp329=) single nucleotide variant not provided [RCV000676886] Chr22:41518527 [GRCh38]
Chr22:41914531 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000681651] Chr22:41527384 [GRCh38]
Chr22:41923388 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2026C>G (p.Leu676Val) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000714584] Chr22:41527360 [GRCh38]
Chr22:41923364 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.1680C>T (p.Pro560=) single nucleotide variant not provided [RCV000940240] Chr22:41525267 [GRCh38]
Chr22:41921271 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1507G>T (p.Gly503Ter) single nucleotide variant Optic atrophy 9 [RCV001591860] Chr22:41524870 [GRCh38]
Chr22:41920874 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.1687C>G (p.Gln563Glu) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001542717] Chr22:41525274 [GRCh38]
Chr22:41921278 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.1702C>T (p.Leu568=) single nucleotide variant not provided [RCV000894851] Chr22:41525289 [GRCh38]
Chr22:41921293 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1762-35G>T single nucleotide variant not provided [RCV001546751] Chr22:41526227 [GRCh38]
Chr22:41922231 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2006C>T (p.Ser669Leu) single nucleotide variant not provided [RCV000762079] Chr22:41527340 [GRCh38]
Chr22:41923344 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1422G>C (p.Arg474Ser) single nucleotide variant not provided [RCV000762078] Chr22:41523881 [GRCh38]
Chr22:41919885 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.836-54T>C single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001548948]|Optic atrophy 9 [RCV001548947]|not provided [RCV001655874] Chr22:41517473 [GRCh38]
Chr22:41913477 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1296+38C>G single nucleotide variant not provided [RCV001577206] Chr22:41523025 [GRCh38]
Chr22:41919029 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.*161G>T single nucleotide variant not provided [RCV001552160] Chr22:41528774 [GRCh38]
Chr22:41924778 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.174-323C>T single nucleotide variant not provided [RCV001582213] Chr22:41507468 [GRCh38]
Chr22:41903472 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.570C>T (p.Gly190=) single nucleotide variant not provided [RCV000997936] Chr22:41515421 [GRCh38]
Chr22:41911425 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1387G>T (p.Gly463Trp) single nucleotide variant not provided [RCV000903299] Chr22:41523846 [GRCh38]
Chr22:41919850 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1443C>T (p.Asp481=) single nucleotide variant not provided [RCV000921868] Chr22:41523902 [GRCh38]
Chr22:41919906 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1485T>A (p.Ile495=) single nucleotide variant not provided [RCV000914857] Chr22:41524848 [GRCh38]
Chr22:41920852 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1617A>G (p.Pro539=) single nucleotide variant not provided [RCV000903993] Chr22:41525204 [GRCh38]
Chr22:41921208 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1473G>A (p.Thr491=) single nucleotide variant not provided [RCV000971346] Chr22:41523932 [GRCh38]
Chr22:41919936 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1986C>T (p.Asp662=) single nucleotide variant not provided [RCV000925517] Chr22:41527320 [GRCh38]
Chr22:41923324 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1113A>G (p.Glu371=) single nucleotide variant not provided [RCV000981393]|not specified [RCV001700684] Chr22:41520251 [GRCh38]
Chr22:41916255 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_001098.3(ACO2):c.31C>T (p.Leu11=) single nucleotide variant not provided [RCV000921349] Chr22:41469177 [GRCh38]
Chr22:41865181 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_001098.3(ACO2):c.1942C>T (p.Arg648Cys) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001007943] Chr22:41526442 [GRCh38]
Chr22:41922446 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.933C>T (p.Gly311=) single nucleotide variant not provided [RCV000928001] Chr22:41517624 [GRCh38]
Chr22:41913628 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1954-9G>C single nucleotide variant not provided [RCV000929677] Chr22:41527279 [GRCh38]
Chr22:41923283 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1893C>T (p.Ser631=) single nucleotide variant not provided [RCV000893083] Chr22:41526393 [GRCh38]
Chr22:41922397 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1431G>A (p.Thr477=) single nucleotide variant not provided [RCV000920139] Chr22:41523890 [GRCh38]
Chr22:41919894 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2229G>A (p.Lys743=) single nucleotide variant not provided [RCV000979670] Chr22:41528499 [GRCh38]
Chr22:41924503 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.9C>T (p.Pro3=) single nucleotide variant not provided [RCV000982989] Chr22:41469155 [GRCh38]
Chr22:41865159 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1545G>A (p.Thr515=) single nucleotide variant not provided [RCV000895536] Chr22:41524908 [GRCh38]
Chr22:41920912 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1139-222A>G single nucleotide variant not provided [RCV000832113] Chr22:41522608 [GRCh38]
Chr22:41918612 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2086+227T>C single nucleotide variant not provided [RCV000837496] Chr22:41527647 [GRCh38]
Chr22:41923651 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1033-174C>G single nucleotide variant not provided [RCV000837673] Chr22:41519997 [GRCh38]
Chr22:41916001 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.2086+220G>A single nucleotide variant not provided [RCV000837674] Chr22:41527640 [GRCh38]
Chr22:41923644 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1954-171C>T single nucleotide variant not provided [RCV000839808] Chr22:41527117 [GRCh38]
Chr22:41923121 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1032+284T>G single nucleotide variant not provided [RCV000843264] Chr22:41518856 [GRCh38]
Chr22:41914860 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1371-47G>T single nucleotide variant not provided [RCV000832985] Chr22:41523783 [GRCh38]
Chr22:41919787 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1483-116G>A single nucleotide variant not provided [RCV000836542] Chr22:41524730 [GRCh38]
Chr22:41920734 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.941-51A>C single nucleotide variant not provided [RCV000833403] Chr22:41518430 [GRCh38]
Chr22:41914434 [GRCh37]
Chr22:22q13.2
benign
NC_000022.11:g.41469029G>C single nucleotide variant not provided [RCV000837251] Chr22:41469029 [GRCh38]
Chr22:41865033 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1605+3G>A single nucleotide variant not provided [RCV000836122] Chr22:41524971 [GRCh38]
Chr22:41920975 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1483-11C>T single nucleotide variant not provided [RCV000842663] Chr22:41524835 [GRCh38]
Chr22:41920839 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q13.2(chr22:41742988-41946225)x3 copy number gain not provided [RCV000848205] Chr22:41742988..41946225 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1954-285T>A single nucleotide variant not provided [RCV000832667] Chr22:41527003 [GRCh38]
Chr22:41923007 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.940+209A>G single nucleotide variant not provided [RCV000837672] Chr22:41517840 [GRCh38]
Chr22:41913844 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1761+313A>G single nucleotide variant not provided [RCV000843295] Chr22:41525661 [GRCh38]
Chr22:41921665 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1605+93G>A single nucleotide variant not provided [RCV000834955] Chr22:41525061 [GRCh38]
Chr22:41921065 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1954-32G>C single nucleotide variant not provided [RCV000835312] Chr22:41527256 [GRCh38]
Chr22:41923260 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_001098.3(ACO2):c.2282C>T (p.Thr761Met) single nucleotide variant not provided [RCV000997938] Chr22:41528552 [GRCh38]
Chr22:41924556 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.836-118C>T single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001548946]|Optic atrophy 9 [RCV001548945]|not provided [RCV001638157] Chr22:41517409 [GRCh38]
Chr22:41913413 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1390G>T (p.Glu464Ter) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000990459] Chr22:41523849 [GRCh38]
Chr22:41919853 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.408C>T (p.Gly136=) single nucleotide variant not provided [RCV001057459] Chr22:41508025 [GRCh38]
Chr22:41904029 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.249G>C (p.Glu83Asp) single nucleotide variant not provided [RCV001248113] Chr22:41507866 [GRCh38]
Chr22:41903870 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1008A>G (p.Gln336=) single nucleotide variant not provided [RCV001230949] Chr22:41518548 [GRCh38]
Chr22:41914552 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1966_1969del (p.Arg656fs) deletion Infantile cerebellar-retinal degeneration [RCV000990460] Chr22:41527300..41527303 [GRCh38]
Chr22:41923304..41923307 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.275G>A (p.Arg92Gln) single nucleotide variant not provided [RCV001221654] Chr22:41507892 [GRCh38]
Chr22:41903896 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.833C>T (p.Thr278Ile) single nucleotide variant not provided [RCV001229067] Chr22:41515915 [GRCh38]
Chr22:41911919 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.74_82del (p.Val25_Gln28delinsGlu) deletion not provided [RCV000997935] Chr22:41499763..41499771 [GRCh38]
Chr22:41895767..41895775 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2173dup (p.Thr725fs) duplication not provided [RCV000997937] Chr22:41527986..41527987 [GRCh38]
Chr22:41923990..41923991 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.941-32C>A single nucleotide variant not provided [RCV001546738] Chr22:41518449 [GRCh38]
Chr22:41914453 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.865G>C (p.Glu289Gln) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001542715] Chr22:41517556 [GRCh38]
Chr22:41913560 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.1138+55C>A single nucleotide variant not provided [RCV001549880] Chr22:41520331 [GRCh38]
Chr22:41916335 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.317C>T (p.Ala106Val) single nucleotide variant Optic atrophy 9 [RCV001591850] Chr22:41507934 [GRCh38]
Chr22:41903938 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1953+274del deletion not provided [RCV001587048] Chr22:41526723 [GRCh38]
Chr22:41922727 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1483-139C>G single nucleotide variant not provided [RCV001586535] Chr22:41524707 [GRCh38]
Chr22:41920711 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2086+120C>T single nucleotide variant not provided [RCV001557653] Chr22:41527540 [GRCh38]
Chr22:41923544 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.*3G>A single nucleotide variant not provided [RCV001655012] Chr22:41528616 [GRCh38]
Chr22:41924620 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1974G>T (p.Val658=) single nucleotide variant not provided [RCV000894241] Chr22:41527308 [GRCh38]
Chr22:41923312 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.339C>T (p.Ser113=) single nucleotide variant not provided [RCV000910117] Chr22:41507956 [GRCh38]
Chr22:41903960 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1926C>T (p.Pro642=) single nucleotide variant not provided [RCV000941130] Chr22:41526426 [GRCh38]
Chr22:41922430 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2278G>A (p.Glu760Lys) single nucleotide variant not provided [RCV000901856] Chr22:41528548 [GRCh38]
Chr22:41924552 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.173+10C>T single nucleotide variant not provided [RCV000882579] Chr22:41499872 [GRCh38]
Chr22:41895876 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.715_716del (p.Ser239fs) microsatellite not provided [RCV001054336] Chr22:41515790..41515791 [GRCh38]
Chr22:41911794..41911795 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.269G>A (p.Arg90Gln) single nucleotide variant not provided [RCV001206487] Chr22:41507886 [GRCh38]
Chr22:41903890 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.298G>A (p.Asp100Asn) single nucleotide variant not provided [RCV001246905] Chr22:41507915 [GRCh38]
Chr22:41903919 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.961G>A (p.Glu321Lys) single nucleotide variant not provided [RCV001206731] Chr22:41518501 [GRCh38]
Chr22:41914505 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1737G>A (p.Leu579=) single nucleotide variant not provided [RCV000933753] Chr22:41525324 [GRCh38]
Chr22:41921328 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2335_2340del (p.Gln779_Gln780del) deletion not provided [RCV000997940] Chr22:41528604..41528609 [GRCh38]
Chr22:41924608..41924613 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.684+82A>T single nucleotide variant not provided [RCV001556733] Chr22:41515617 [GRCh38]
Chr22:41911621 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1953+186T>C single nucleotide variant not provided [RCV001541358] Chr22:41526639 [GRCh38]
Chr22:41922643 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.36+148G>A single nucleotide variant not provided [RCV001660873] Chr22:41469330 [GRCh38]
Chr22:41865334 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1139-281C>T single nucleotide variant not provided [RCV001562699] Chr22:41522549 [GRCh38]
Chr22:41918553 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2208+206A>G single nucleotide variant not provided [RCV001677591] Chr22:41528228 [GRCh38]
Chr22:41924232 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.836-58G>C single nucleotide variant not provided [RCV001578144] Chr22:41517469 [GRCh38]
Chr22:41913473 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1032+216dup duplication not provided [RCV001609308] Chr22:41518771..41518772 [GRCh38]
Chr22:41914775..41914776 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q13.2(chr22:41871935-42026428)x1 copy number loss not provided [RCV001007503] Chr22:41871935..42026428 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1032+216del deletion not provided [RCV001537109] Chr22:41518772 [GRCh38]
Chr22:41914776 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1762-18_1762-12dup duplication not provided [RCV001658980] Chr22:41526241..41526242 [GRCh38]
Chr22:41922245..41922246 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1606-106G>A single nucleotide variant not provided [RCV001658676] Chr22:41525087 [GRCh38]
Chr22:41921091 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.2087-76G>T single nucleotide variant not provided [RCV001596381] Chr22:41527825 [GRCh38]
Chr22:41923829 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.839T>C (p.Met280Thr) single nucleotide variant not provided [RCV001092856] Chr22:41517530 [GRCh38]
Chr22:41913534 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2011C>T (p.Arg671Trp) single nucleotide variant not provided [RCV001171729] Chr22:41527345 [GRCh38]
Chr22:41923349 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.950A>G (p.Asn317Ser) single nucleotide variant not provided [RCV001067233] Chr22:41518490 [GRCh38]
Chr22:41914494 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.927G>C (p.Lys309Asn) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001542716] Chr22:41517618 [GRCh38]
Chr22:41913622 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.1139-179del deletion not provided [RCV001680616] Chr22:41522650 [GRCh38]
Chr22:41918654 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.274C>T (p.Arg92Trp) single nucleotide variant not provided [RCV001067250] Chr22:41507891 [GRCh38]
Chr22:41903895 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1288G>T (p.Asp430Tyr) single nucleotide variant not provided [RCV001039640] Chr22:41522979 [GRCh38]
Chr22:41918983 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.245T>C (p.Ile82Thr) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001333750]|not provided [RCV001047707] Chr22:41507862 [GRCh38]
Chr22:41903866 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.358G>A (p.Val120Met) single nucleotide variant not provided [RCV001048286] Chr22:41507975 [GRCh38]
Chr22:41903979 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.155T>C (p.Ile52Thr) single nucleotide variant not provided [RCV001040466] Chr22:41499844 [GRCh38]
Chr22:41895848 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.279G>A (p.Pro93=) single nucleotide variant not provided [RCV001206156] Chr22:41507896 [GRCh38]
Chr22:41903900 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.424C>T (p.Arg142Trp) single nucleotide variant not provided [RCV001207134] Chr22:41508041 [GRCh38]
Chr22:41904045 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.835G>C (p.Gly279Arg) single nucleotide variant not provided [RCV001204438] Chr22:41515917 [GRCh38]
Chr22:41911921 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2253dup (p.Ile752fs) duplication Optic atrophy 9 [RCV001197152] Chr22:41528521..41528522 [GRCh38]
Chr22:41924525..41924526 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.490G>C (p.Gly164Arg) single nucleotide variant not provided [RCV001092855] Chr22:41511933 [GRCh38]
Chr22:41907937 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1150A>G (p.Ser384Gly) single nucleotide variant not provided [RCV001092857] Chr22:41522841 [GRCh38]
Chr22:41918845 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1 copy number loss not provided [RCV001258783] Chr22:41853620..42385978 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.433-2_433-1inv inversion Infantile cerebellar-retinal degeneration [RCV001255994] Chr22:41511874..41511875 [GRCh38]
Chr22:41907878..41907879 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.1240T>G (p.Phe414Val) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001255992] Chr22:41522931 [GRCh38]
Chr22:41918935 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.1787A>G (p.His596Arg) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001255993] Chr22:41526287 [GRCh38]
Chr22:41922291 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.844_862del (p.Thr282fs) deletion not provided [RCV001291606] Chr22:41517534..41517552 [GRCh38]
Chr22:41913538..41913556 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.1744C>G (p.Leu582Val) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001262177] Chr22:41525331 [GRCh38]
Chr22:41921335 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.219C>G (p.His73Gln) single nucleotide variant not provided [RCV001338475] Chr22:41507836 [GRCh38]
Chr22:41903840 [GRCh37]
Chr22:22q13.2
uncertain significance
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1183C>T (p.Arg395Cys) single nucleotide variant not provided [RCV001315787] Chr22:41522874 [GRCh38]
Chr22:41918878 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.203A>G (p.Lys68Arg) single nucleotide variant not provided [RCV001321363] Chr22:41507820 [GRCh38]
Chr22:41903824 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.173+4A>G single nucleotide variant not provided [RCV001310812] Chr22:41499866 [GRCh38]
Chr22:41895870 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.16C>T (p.Leu6=) single nucleotide variant not provided [RCV001394643] Chr22:41469162 [GRCh38]
Chr22:41865166 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1506G>A (p.Ala502=) single nucleotide variant not provided [RCV001307184] Chr22:41524869 [GRCh38]
Chr22:41920873 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1311_1312insA (p.Asp438fs) insertion not provided [RCV001369539] Chr22:41523219..41523220 [GRCh38]
Chr22:41919223..41919224 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1272C>T (p.Arg424=) single nucleotide variant not provided [RCV001422338] Chr22:41522963 [GRCh38]
Chr22:41918967 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2187G>A (p.Leu729=) single nucleotide variant not provided [RCV001433513] Chr22:41528001 [GRCh38]
Chr22:41924005 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.822dup (p.Ile275fs) duplication not provided [RCV001383135] Chr22:41515902..41515903 [GRCh38]
Chr22:41911906..41911907 [GRCh37]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.198G>A (p.Ser66=) single nucleotide variant not provided [RCV001304243] Chr22:41507815 [GRCh38]
Chr22:41903819 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.805G>A (p.Gly269Arg) single nucleotide variant not provided [RCV001294845] Chr22:41515887 [GRCh38]
Chr22:41911891 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del) microsatellite Optic atrophy 9 [RCV001333749]|not provided [RCV001732131] Chr22:41527958..41527960 [GRCh38]
Chr22:41923962..41923964 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1879G>A (p.Gly627Ser) single nucleotide variant not provided [RCV001364806] Chr22:41526379 [GRCh38]
Chr22:41922383 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2302G>A (p.Ala768Thr) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001332805] Chr22:41528572 [GRCh38]
Chr22:41924576 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1924C>T (p.Pro642Ser) single nucleotide variant not provided [RCV001368583] Chr22:41526424 [GRCh38]
Chr22:41922428 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.26C>T (p.Thr9Ile) single nucleotide variant not provided [RCV001319004] Chr22:41469172 [GRCh38]
Chr22:41865176 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.542A>G (p.Tyr181Cys) single nucleotide variant not provided [RCV001341065] Chr22:41515393 [GRCh38]
Chr22:41911397 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1605+5G>C single nucleotide variant not provided [RCV001316931] Chr22:41524973 [GRCh38]
Chr22:41920977 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1762-9C>A single nucleotide variant not provided [RCV001319197] Chr22:41526253 [GRCh38]
Chr22:41922257 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2208+6G>C single nucleotide variant not provided [RCV001347651] Chr22:41528028 [GRCh38]
Chr22:41924032 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.302C>T (p.Ala101Val) single nucleotide variant not provided [RCV001320976] Chr22:41507919 [GRCh38]
Chr22:41903923 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.534G>A (p.Leu178=) single nucleotide variant not provided [RCV001308151] Chr22:41515385 [GRCh38]
Chr22:41911389 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.693C>T (p.Gly231=) single nucleotide variant not provided [RCV001316274] Chr22:41515775 [GRCh38]
Chr22:41911779 [GRCh37]
Chr22:22q13.2
uncertain significance
NC_000022.10:g.(?_41918834)_(41923424_?)dup duplication not provided [RCV001322542] Chr22:41918834..41923424 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.952del (p.Asn317_Leu318insTer) deletion not provided [RCV001373089] Chr22:41518492 [GRCh38]
Chr22:41914496 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1820G>A (p.Arg607His) single nucleotide variant not provided [RCV001322725] Chr22:41526320 [GRCh38]
Chr22:41922324 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.793G>A (p.Val265Met) single nucleotide variant not provided [RCV001346276] Chr22:41515875 [GRCh38]
Chr22:41911879 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.455A>C (p.Asn152Thr) single nucleotide variant not provided [RCV001371321] Chr22:41511898 [GRCh38]
Chr22:41907902 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.728C>T (p.Ser243Leu) single nucleotide variant not provided [RCV001297922] Chr22:41515810 [GRCh38]
Chr22:41911814 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1840_1842del (p.Ser614del) deletion not provided [RCV001309940] Chr22:41526339..41526341 [GRCh38]
Chr22:41922343..41922345 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1132C>T (p.Arg378Ter) single nucleotide variant not provided [RCV001371665] Chr22:41520270 [GRCh38]
Chr22:41916274 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.790A>G (p.Ile264Val) single nucleotide variant not provided [RCV001313127] Chr22:41515872 [GRCh38]
Chr22:41911876 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.546G>A (p.Ala182=) single nucleotide variant not provided [RCV001492331] Chr22:41515397 [GRCh38]
Chr22:41911401 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1293C>T (p.Gly431=) single nucleotide variant not provided [RCV001466874] Chr22:41522984 [GRCh38]
Chr22:41918988 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.210G>A (p.Val70=) single nucleotide variant not provided [RCV001479785] Chr22:41507827 [GRCh38]
Chr22:41903831 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1260C>T (p.Ser420=) single nucleotide variant not provided [RCV001465207] Chr22:41522951 [GRCh38]
Chr22:41918955 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.705G>A (p.Thr235=) single nucleotide variant not provided [RCV001400363] Chr22:41515787 [GRCh38]
Chr22:41911791 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1581G>A (p.Pro527=) single nucleotide variant not provided [RCV001401210] Chr22:41524944 [GRCh38]
Chr22:41920948 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.549C>T (p.Tyr183=) single nucleotide variant not provided [RCV001440177] Chr22:41515400 [GRCh38]
Chr22:41911404 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.930C>T (p.Thr310=) single nucleotide variant not provided [RCV001437267] Chr22:41517621 [GRCh38]
Chr22:41913625 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.836-6C>T single nucleotide variant not provided [RCV001420067] Chr22:41517521 [GRCh38]
Chr22:41913525 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.954A>G (p.Leu318=) single nucleotide variant not provided [RCV001438761] Chr22:41518494 [GRCh38]
Chr22:41914498 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.879C>T (p.Thr293=) single nucleotide variant not provided [RCV001446787] Chr22:41517570 [GRCh38]
Chr22:41913574 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1503T>C (p.Ile501=) single nucleotide variant not provided [RCV001423691] Chr22:41524866 [GRCh38]
Chr22:41920870 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2209-78C>G single nucleotide variant not provided [RCV001572356] Chr22:41528401 [GRCh38]
Chr22:41924405 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1606-20A>G single nucleotide variant not provided [RCV001432199] Chr22:41525173 [GRCh38]
Chr22:41921177 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.117C>G (p.Pro39=) single nucleotide variant not provided [RCV001445941] Chr22:41499806 [GRCh38]
Chr22:41895810 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1762-73_1762-70del microsatellite not provided [RCV001695320] Chr22:41526183..41526186 [GRCh38]
Chr22:41922187..41922190 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.2175C>T (p.Thr725=) single nucleotide variant not provided [RCV001470024] Chr22:41527989 [GRCh38]
Chr22:41923993 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.37-321G>A single nucleotide variant not provided [RCV001679111] Chr22:41499405 [GRCh38]
Chr22:41895409 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.885C>T (p.Ser295=) single nucleotide variant not provided [RCV001470597] Chr22:41517576 [GRCh38]
Chr22:41913580 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.941-9T>G single nucleotide variant not provided [RCV001477145] Chr22:41518472 [GRCh38]
Chr22:41914476 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.174-5C>A single nucleotide variant not provided [RCV001452295] Chr22:41507786 [GRCh38]
Chr22:41903790 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1656C>T (p.Ser552=) single nucleotide variant not provided [RCV001517428] Chr22:41525243 [GRCh38]
Chr22:41921247 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1218T>C (p.His406=) single nucleotide variant not provided [RCV001505619] Chr22:41522909 [GRCh38]
Chr22:41918913 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1438A>G (p.Asn480Asp) single nucleotide variant not provided [RCV001754892] Chr22:41523897 [GRCh38]
Chr22:41919901 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2035C>T (p.Arg679Cys) single nucleotide variant not provided [RCV001754866] Chr22:41527369 [GRCh38]
Chr22:41923373 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2209-29T>C single nucleotide variant not provided [RCV001732485] Chr22:41528450 [GRCh38]
Chr22:41924454 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1032G>A (p.Glu344=) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001779378] Chr22:41518572 [GRCh38]
Chr22:41914576 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1189G>C (p.Ala397Pro) single nucleotide variant not provided [RCV001763556] Chr22:41522880 [GRCh38]
Chr22:41918884 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.487G>A (p.Val163Met) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001779377] Chr22:41511930 [GRCh38]
Chr22:41907934 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_032758.4(PHF5A):c.11A>G (p.His4Arg) single nucleotide variant not provided [RCV001733301] Chr22:41468643 [GRCh38]
Chr22:41864647 [GRCh37]
Chr22:22q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:118 AgrOrtholog
COSMIC ACO2 COSMIC
Ensembl Genes ENSG00000100412 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000216254 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379769 UniProtKB/TrEMBL
  ENSP00000503199 UniProtKB/TrEMBL
  ENSP00000503370 UniProtKB/TrEMBL
  ENSP00000503371 UniProtKB/TrEMBL
  ENSP00000503471 UniProtKB/TrEMBL
  ENSP00000503590 UniProtKB/TrEMBL
  ENSP00000503709 UniProtKB/TrEMBL
  ENSP00000503913 UniProtKB/TrEMBL
  ENSP00000503990 UniProtKB/TrEMBL
  ENSP00000504150 UniProtKB/TrEMBL
  ENSP00000504377 UniProtKB/TrEMBL
  ENSP00000504453 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000504513 UniProtKB/TrEMBL
  ENSP00000504634 UniProtKB/TrEMBL
  ENSP00000504684 UniProtKB/TrEMBL
  ENSP00000504699 UniProtKB/TrEMBL
  ENSP00000504719 UniProtKB/TrEMBL
  ENSP00000504780 UniProtKB/TrEMBL
Ensembl Transcript ENST00000216254 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396512 UniProtKB/TrEMBL
  ENST00000466237 UniProtKB/TrEMBL
  ENST00000676664 UniProtKB/TrEMBL
  ENST00000676714 UniProtKB/TrEMBL
  ENST00000676748 UniProtKB/TrEMBL
  ENST00000676792 UniProtKB/TrEMBL
  ENST00000676959 UniProtKB/TrEMBL
  ENST00000677007 UniProtKB/TrEMBL
  ENST00000677153 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000677516 UniProtKB/TrEMBL
  ENST00000677532 UniProtKB/TrEMBL
  ENST00000677554 UniProtKB/TrEMBL
  ENST00000677698 UniProtKB/TrEMBL
  ENST00000678269 UniProtKB/TrEMBL
  ENST00000678688 UniProtKB/TrEMBL
  ENST00000678788 UniProtKB/TrEMBL
  ENST00000678819 UniProtKB/TrEMBL
  ENST00000679320 UniProtKB/TrEMBL
Gene3D-CATH 3.20.19.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.499.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.1060.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100412 GTEx
HGNC ID HGNC:118 ENTREZGENE
Human Proteome Map ACO2 Human Proteome Map
InterPro Acnase/IPM_dHydase_lsu_aba_1/3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acoase/IPM_deHydtase_lsu_aba UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase/3IPM_dehydase_swvl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase_4Fe-4S_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase_4Fe-4S_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase_mito-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AconitaseA/IPMdHydase_ssu_swvl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:50 UniProtKB/Swiss-Prot
NCBI Gene 50 ENTREZGENE
OMIM 100850 OMIM
  614559 OMIM
  616289 OMIM
Pfam Aconitase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aconitase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24443 PharmGKB
PRINTS ACONITASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ACONITASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACONITASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53732 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs aconitase_mito UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7I2V2Y4_HUMAN UniProtKB/TrEMBL
  A0A7I2V3C8_HUMAN UniProtKB/TrEMBL
  A0A7I2V3F1_HUMAN UniProtKB/TrEMBL
  A0A7I2V3U0_HUMAN UniProtKB/TrEMBL
  A0A7I2V3U7_HUMAN UniProtKB/TrEMBL
  A0A7I2V499_HUMAN UniProtKB/TrEMBL
  A0A7I2V4I8_HUMAN UniProtKB/TrEMBL
  A0A7I2V538_HUMAN UniProtKB/TrEMBL
  A0A7I2V586_HUMAN UniProtKB/TrEMBL
  A0A7I2V5A1_HUMAN UniProtKB/TrEMBL
  A0A7I2V5T4_HUMAN UniProtKB/TrEMBL
  A0A7I2V5U4_HUMAN UniProtKB/TrEMBL
  A0A7I2V5W7_HUMAN UniProtKB/TrEMBL
  A0A7I2V614_HUMAN UniProtKB/TrEMBL
  A0A7I2V6A6_HUMAN UniProtKB/TrEMBL
  A2A274_HUMAN UniProtKB/TrEMBL
  ACON_HUMAN UniProtKB/Swiss-Prot
  Q71UF1_HUMAN UniProtKB/TrEMBL
  Q99798 ENTREZGENE
UniProt Secondary O75809 UniProtKB/Swiss-Prot
  Q5JZ41 UniProtKB/Swiss-Prot
  Q6FHX0 UniProtKB/Swiss-Prot
  Q8TAQ6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 ACO2  aconitase 2    aconitase 2, mitochondrial  Symbol and/or name change 5135510 APPROVED
2011-08-16 ACO2  aconitase 2, mitochondrial  ACO2  aconitase 2, mitochondrial  Symbol and/or name change 5135510 APPROVED