OGDH (oxoglutarate dehydrogenase) - Rat Genome Database

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Gene: OGDH (oxoglutarate dehydrogenase) Homo sapiens
Analyze
Symbol: OGDH
Name: oxoglutarate dehydrogenase
RGD ID: 1353072
HGNC Page HGNC:8124
Description: Enables oxoglutarate dehydrogenase (succinyl-transferring) activity and thiamine pyrophosphate binding activity. Involved in 2-oxoglutarate metabolic process and succinyl-CoA metabolic process. Located in mitochondrion and nucleus. Part of oxoglutarate dehydrogenase complex. Implicated in oxoglutarate dehydrogenase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 2-oxoglutarate dehydrogenase complex component E1; 2-oxoglutarate dehydrogenase, mitochondrial; AKGDH; alpha-ketoglutarate dehydrogenase; alpha-KGDH-E1; E1k; E1o; HsOGDH; KGD1; OGDC; OGDC-E1; OGDH-E1; OGDH2; OGDHD; oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide); oxoglutarate decarboxylase; oxoglutarate dehydrogenase (lipoamide); oxoglutarate dehydrogenase (succinyl-transferring); testicular tissue protein Li 131; thiamine diphosphate (ThDP)-dependent 2-oxoglutarate dehydrogenase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38744,606,627 - 44,709,066 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl744,606,572 - 44,709,066 (+)EnsemblGRCh38hg38GRCh38
GRCh37744,646,226 - 44,748,665 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,612,696 - 44,715,194 (+)NCBINCBI36Build 36hg18NCBI36
Build 34744,419,410 - 44,521,908NCBI
Celera744,744,966 - 44,847,513 (+)NCBICelera
Cytogenetic Map7p13NCBI
HuRef744,530,268 - 44,633,659 (+)NCBIHuRef
CHM1_1744,650,491 - 44,752,987 (+)NCBICHM1_1
T2T-CHM13v2.0744,766,778 - 44,869,231 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2744,685,639 - 44,788,190 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-nicotine  (ISO)
1,1'-azobis(N,N-dimethylformamide)  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-dithiothreitol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2-hydroxypropanoic acid  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (ISO)
acrylamide  (EXP,ISO)
all-trans-retinoic acid  (EXP)
aluminium atom  (EXP,ISO)
aluminium(0)  (EXP,ISO)
amiodarone  (ISO)
aristolochic acid A  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
benzatropine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
capsaicin  (ISO)
carbon nanotube  (ISO)
celastrol  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
conjugated linoleic acid  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
diallyl trisulfide  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
doxorubicin  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glutathione  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroquinone O-beta-D-glucopyranoside  (ISO)
indometacin  (ISO)
inulin  (ISO)
iodide salt  (ISO)
isoniazide  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
kahweol  (EXP)
L-1,4-dithiothreitol  (ISO)
L-ascorbic acid  (ISO)
L-ethionine  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
myrtenal  (ISO)
N(4)-hydroxycytidine  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
naringin  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
nicotinamide  (EXP)
nicotine  (ISO)
Nonylphenol  (ISO)
ochratoxin A  (EXP,ISO)
omeprazole  (ISO)
oxybenzone  (ISO)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (EXP,ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
S-allylcysteine  (ISO)
silicon dioxide  (EXP)
sinapic acid  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone enanthate  (EXP)
thioacetamide  (ISO)
thymol  (ISO)
thymol sulfate(1-)  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (ISO)
valproic acid  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrial matrix  (IEA,TAS)
mitochondrial membrane  (ISS)
mitochondrion  (HTP,IBA,IDA,IEA)
nucleus  (IDA,IEA)
oxoglutarate dehydrogenase complex  (IBA,IDA,IEA,ISO)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Inactivation of aconitase and oxoglutarate dehydrogenase in skeletal muscle in vitro by superoxide anions and/or nitric oxide. Andersson U, etal., Biochem Biophys Res Commun. 1998 Aug 19;249(2):512-6.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. The alpha-ketoglutarate dehydrogenase complex. Sheu KF and Blass JP, Ann N Y Acad Sci. 1999;893:61-78.
Additional References at PubMed
PMID:1542694   PMID:2188967   PMID:7622061   PMID:8020988   PMID:8889548   PMID:9727038   PMID:9847074   PMID:12477932   PMID:15466852   PMID:15649899   PMID:16009940   PMID:16189514  
PMID:16344560   PMID:17343268   PMID:17456239   PMID:18029348   PMID:19615732   PMID:20877624   PMID:21611730   PMID:21873635   PMID:21901101   PMID:21963895   PMID:22169199   PMID:22496890  
PMID:22658674   PMID:22939629   PMID:23475850   PMID:23874603   PMID:24147044   PMID:24495017   PMID:24506869   PMID:25438054   PMID:25544563   PMID:25737280   PMID:25796446   PMID:25921289  
PMID:26186194   PMID:26217791   PMID:26344197   PMID:26496610   PMID:26725010   PMID:26936970   PMID:27342126   PMID:27468871   PMID:27892457   PMID:27923773   PMID:28380382   PMID:28396387  
PMID:28514442   PMID:28611215   PMID:29117863   PMID:29146913   PMID:29211711   PMID:29395067   PMID:29449217   PMID:29507755   PMID:29509190   PMID:29509794   PMID:29568061   PMID:30021884  
PMID:30455355   PMID:30575818   PMID:30737405   PMID:30833792   PMID:30884312   PMID:30948266   PMID:30997501   PMID:31056398   PMID:31067453   PMID:31247190   PMID:31353912   PMID:31536960  
PMID:31586073   PMID:31617661   PMID:31871319   PMID:32024885   PMID:32129710   PMID:32160276   PMID:32383294   PMID:32628020   PMID:32687490   PMID:32707033   PMID:32780723   PMID:32807901  
PMID:32814053   PMID:32877691   PMID:33111431   PMID:33226137   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34591612   PMID:34709727   PMID:34800366  
PMID:35012549   PMID:35384245   PMID:35509820   PMID:35575683   PMID:35676659   PMID:35831314   PMID:35864588   PMID:35915203   PMID:35944360   PMID:36215168   PMID:36225252   PMID:36243803  
PMID:36369321   PMID:36520152   PMID:37167062   PMID:37223481   PMID:37827155   PMID:38483541   PMID:38496616   PMID:38697112   PMID:39147351   PMID:39422127  


Genomics

Comparative Map Data
OGDH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38744,606,627 - 44,709,066 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl744,606,572 - 44,709,066 (+)EnsemblGRCh38hg38GRCh38
GRCh37744,646,226 - 44,748,665 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,612,696 - 44,715,194 (+)NCBINCBI36Build 36hg18NCBI36
Build 34744,419,410 - 44,521,908NCBI
Celera744,744,966 - 44,847,513 (+)NCBICelera
Cytogenetic Map7p13NCBI
HuRef744,530,268 - 44,633,659 (+)NCBIHuRef
CHM1_1744,650,491 - 44,752,987 (+)NCBICHM1_1
T2T-CHM13v2.0744,766,778 - 44,869,231 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2744,685,639 - 44,788,190 (+)NCBI
Ogdh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39116,241,597 - 6,309,094 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl116,241,633 - 6,306,642 (+)EnsemblGRCm39 Ensembl
GRCm38116,291,597 - 6,359,094 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl116,291,633 - 6,356,642 (+)EnsemblGRCm38mm10GRCm38
MGSCv37116,191,600 - 6,259,096 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36116,191,600 - 6,268,605 (+)NCBIMGSCv36mm8
Celera116,773,507 - 6,842,010 (+)NCBICelera
Cytogenetic Map11A1NCBI
cM Map113.94NCBI
Ogdh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81485,363,949 - 85,431,405 (+)NCBIGRCr8
mRatBN7.21481,150,021 - 81,217,479 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1481,150,091 - 81,217,479 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1485,551,494 - 85,617,817 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01486,791,580 - 86,857,903 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01483,240,905 - 83,307,226 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01486,414,924 - 86,481,903 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1486,414,949 - 86,613,327 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01487,376,110 - 87,442,862 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41487,022,994 - 87,090,768 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1480,033,036 - 80,099,636 (+)NCBICelera
Cytogenetic Map14q21NCBI
Ogdh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554567,415,589 - 7,485,515 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554567,416,343 - 7,484,889 (-)NCBIChiLan1.0ChiLan1.0
OGDH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2649,519,160 - 49,621,977 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1797,843,898 - 97,946,715 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0745,321,559 - 45,422,515 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1745,390,679 - 45,492,000 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl745,409,148 - 45,491,636 (+)Ensemblpanpan1.1panPan2
OGDH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha162,363,764 - 2,432,958 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01614,428,589 - 14,497,803 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1614,428,589 - 14,497,757 (-)EnsemblROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.01614,059,830 - 14,129,291 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01614,040,718 - 14,109,906 (-)NCBIUU_Cfam_GSD_1.0
Ogdh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118100,295,062 - 100,372,678 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647819,506,154 - 19,583,364 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647819,506,845 - 19,584,411 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OGDH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1850,609,418 - 50,684,964 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11850,609,415 - 50,684,990 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21855,497,953 - 55,588,004 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OGDH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12113,975,825 - 14,070,216 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2113,973,845 - 14,070,731 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660628,465,981 - 8,560,428 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ogdh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247407,482,314 - 7,549,417 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247407,481,719 - 7,549,809 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OGDH
193 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002541.4(OGDH):c.1844C>T (p.Thr615Ile) single nucleotide variant Oxoglutaricaciduria [RCV000524694]|not provided [RCV004791560] Chr7:44696501 [GRCh38]
Chr7:44736100 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1128C>T (p.His376=) single nucleotide variant Oxoglutaricaciduria [RCV001394437] Chr7:44676071 [GRCh38]
Chr7:44715670 [GRCh37]
Chr7:7p13		 likely benign
GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1 copy number loss See cases [RCV000052316] Chr7:44193369..46558381 [GRCh38]
Chr7:44232968..46597979 [GRCh37]
Chr7:44199493..46564504 [NCBI36]
Chr7:7p13-12.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 copy number loss See cases [RCV000053132] Chr7:39814159..45749735 [GRCh38]
Chr7:39853758..45789334 [GRCh37]
Chr7:39820283..45755859 [NCBI36]
Chr7:7p14.1-12.3		 pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21		 pathogenic
NM_002541.3(OGDH):c.861C>T (p.Ile287=) single nucleotide variant Malignant melanoma [RCV000067884] Chr7:44674483 [GRCh38]
Chr7:44714082 [GRCh37]
Chr7:44680607 [NCBI36]
Chr7:7p13		 not provided
NM_002541.3(OGDH):c.2191G>A (p.Gly731Ser) single nucleotide variant Malignant melanoma [RCV000067885] Chr7:44697615 [GRCh38]
Chr7:44737214 [GRCh37]
Chr7:44703739 [NCBI36]
Chr7:7p13		 not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1 copy number loss See cases [RCV000134973] Chr7:44571949..53699760 [GRCh38]
Chr7:44611548..53767453 [GRCh37]
Chr7:44578073..53734947 [NCBI36]
Chr7:7p13-12.1		 pathogenic
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2		 pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1		 pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3		 pathogenic
GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1 copy number loss See cases [RCV000137305] Chr7:39063400..45363096 [GRCh38]
Chr7:39103000..45402695 [GRCh37]
Chr7:39069525..45369220 [NCBI36]
Chr7:7p14.1-13		 pathogenic
GRCh38/hg38 7p13(chr7:44345798-45076469)x3 copy number gain See cases [RCV000140230] Chr7:44345798..45076469 [GRCh38]
Chr7:44385397..45116068 [GRCh37]
Chr7:44351922..45082593 [NCBI36]
Chr7:7p13		 uncertain significance
GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 copy number loss See cases [RCV000142297] Chr7:38177999..45304100 [GRCh38]
Chr7:38217601..45343699 [GRCh37]
Chr7:38184126..45310224 [NCBI36]
Chr7:7p14.1-13		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p13(chr7:44298464-44663913)x3 copy number gain See cases [RCV000449189] Chr7:44298464..44663913 [GRCh37]
Chr7:7p13		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1 copy number loss See cases [RCV000446941] Chr7:40350383..47034422 [GRCh37]
Chr7:7p14.1-12.3		 pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p13(chr7:44688036-45364793)x3 copy number gain See cases [RCV000511814] Chr7:44688036..45364793 [GRCh37]
Chr7:7p13		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002541.4(OGDH):c.1813C>T (p.Pro605Ser) single nucleotide variant not specified [RCV004332771] Chr7:44696470 [GRCh38]
Chr7:44736069 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.345A>G (p.Glu115=) single nucleotide variant Oxoglutaricaciduria [RCV001517059]|not provided [RCV000676714] Chr7:44645449 [GRCh38]
Chr7:44685048 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.3052G>A (p.Val1018Ile) single nucleotide variant OGDH-related disorder [RCV003983164]|Oxoglutaricaciduria [RCV001512635]|not provided [RCV000676721] Chr7:44707979 [GRCh38]
Chr7:44747578 [GRCh37]
Chr7:7p13		 benign
GRCh37/hg19 7p13(chr7:44620163-44961185)x3 copy number gain not provided [RCV000682830] Chr7:44620163..44961185 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.637G>A (p.Ala213Thr) single nucleotide variant not provided [RCV000676716] Chr7:44673790 [GRCh38]
Chr7:44713389 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2988C>T (p.Thr996=) single nucleotide variant OGDH-related disorder [RCV003980302]|Oxoglutaricaciduria [RCV001512634]|not provided [RCV000676720] Chr7:44707915 [GRCh38]
Chr7:44747514 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.396G>A (p.Ser132=) single nucleotide variant OGDH-related disorder [RCV003918114]|Oxoglutaricaciduria [RCV001511811]|not provided [RCV000676715] Chr7:44645500 [GRCh38]
Chr7:44685099 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.936-7G>A single nucleotide variant Oxoglutaricaciduria [RCV001513977]|not provided [RCV000676717] Chr7:44675171 [GRCh38]
Chr7:44714770 [GRCh37]
Chr7:7p13		 benign|likely benign
NM_002541.4(OGDH):c.2973G>A (p.Ala991=) single nucleotide variant OGDH-related disorder [RCV003980301]|Oxoglutaricaciduria [RCV001517060]|not provided [RCV000676719] Chr7:44707900 [GRCh38]
Chr7:44747499 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.39A>C (p.Pro13=) single nucleotide variant OGDH-related disorder [RCV003907938]|Oxoglutaricaciduria [RCV001082748]|not provided [RCV000676713] Chr7:44624382 [GRCh38]
Chr7:44663981 [GRCh37]
Chr7:7p13		 benign|likely benign
NM_002541.4(OGDH):c.2784A>G (p.Thr928=) single nucleotide variant OGDH-related disorder [RCV003938028]|Oxoglutaricaciduria [RCV001079863]|not provided [RCV000676718] Chr7:44707376 [GRCh38]
Chr7:44746975 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.3063C>T (p.Asn1021=) single nucleotide variant OGDH-related disorder [RCV003980303]|Oxoglutaricaciduria [RCV001516493]|not provided [RCV000676722] Chr7:44707990 [GRCh38]
Chr7:44747589 [GRCh37]
Chr7:7p13		 benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002541.4(OGDH):c.357C>T (p.Asn119=) single nucleotide variant Oxoglutaricaciduria [RCV000895391] Chr7:44645461 [GRCh38]
Chr7:44685060 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.1878G>A (p.Val626=) single nucleotide variant Oxoglutaricaciduria [RCV003635932] Chr7:44696535 [GRCh38]
Chr7:44736134 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2458A>T (p.Asn820Tyr) single nucleotide variant OGDH-related disorder [RCV004757342]|Oxoglutaricaciduria [RCV000949520] Chr7:44700168 [GRCh38]
Chr7:44739767 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1968G>A (p.Ala656=) single nucleotide variant Oxoglutaricaciduria [RCV001079044]|not provided [RCV000968434] Chr7:44696981 [GRCh38]
Chr7:44736580 [GRCh37]
Chr7:7p13		 benign|likely benign
NM_002541.4(OGDH):c.1857T>C (p.Asn619=) single nucleotide variant OGDH-related disorder [RCV003897952]|Oxoglutaricaciduria [RCV000967048] Chr7:44696514 [GRCh38]
Chr7:44736113 [GRCh37]
Chr7:7p13		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002541.4(OGDH):c.2958C>T (p.Ala986=) single nucleotide variant Oxoglutaricaciduria [RCV002548391] Chr7:44707885 [GRCh38]
Chr7:44747484 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1516-4G>A single nucleotide variant not provided [RCV000895577] Chr7:44694420 [GRCh38]
Chr7:44734019 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2952-9A>G single nucleotide variant not provided [RCV000922603] Chr7:44707870 [GRCh38]
Chr7:44747469 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.3042C>T (p.Phe1014=) single nucleotide variant Oxoglutaricaciduria [RCV000886940] Chr7:44707969 [GRCh38]
Chr7:44747568 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.111T>A (p.Ile37=) single nucleotide variant not provided [RCV000922154] Chr7:44624454 [GRCh38]
Chr7:44664053 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1533C>T (p.Asn511=) single nucleotide variant Oxoglutaricaciduria [RCV002065456] Chr7:44694441 [GRCh38]
Chr7:44734040 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1829C>T (p.Thr610Met) single nucleotide variant Oxoglutaricaciduria [RCV000823220] Chr7:44696486 [GRCh38]
Chr7:44736085 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2779A>G (p.Ile927Val) single nucleotide variant Oxoglutaricaciduria [RCV002539463] Chr7:44707371 [GRCh38]
Chr7:44746970 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2776G>A (p.Ala926Thr) single nucleotide variant Oxoglutaricaciduria [RCV000809578] Chr7:44707368 [GRCh38]
Chr7:44746967 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2471A>T (p.Asp824Val) single nucleotide variant not specified [RCV004298537] Chr7:44700181 [GRCh38]
Chr7:44739780 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2597C>G (p.Pro866Arg) single nucleotide variant not specified [RCV004284216] Chr7:44701580 [GRCh38]
Chr7:44741179 [GRCh37]
Chr7:7p13		 uncertain significance
NC_000007.13:g.(?_43810758)_(44747598_?)del deletion not provided [RCV003105673] Chr7:43810758..44747598 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1422C>T (p.His474=) single nucleotide variant Oxoglutaricaciduria [RCV000899224] Chr7:44693911 [GRCh38]
Chr7:44733510 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.948C>T (p.Asn316=) single nucleotide variant not provided [RCV000909724] Chr7:44675190 [GRCh38]
Chr7:44714789 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1830G>A (p.Thr610=) single nucleotide variant OGDH-related disorder [RCV003922921]|Oxoglutaricaciduria [RCV002540172] Chr7:44696487 [GRCh38]
Chr7:44736086 [GRCh37]
Chr7:7p13		 benign|likely benign
NM_002541.4(OGDH):c.1188C>T (p.Gly396=) single nucleotide variant OGDH-related disorder [RCV003936180]|Oxoglutaricaciduria [RCV000973992]|not provided [RCV003432977] Chr7:44676131 [GRCh38]
Chr7:44715730 [GRCh37]
Chr7:7p13		 benign|likely benign
NM_002541.4(OGDH):c.1221G>A (p.Leu407=) single nucleotide variant not provided [RCV000907931] Chr7:44681734 [GRCh38]
Chr7:44721333 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1323C>T (p.Val441=) single nucleotide variant not provided [RCV000929883] Chr7:44681836 [GRCh38]
Chr7:44721435 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.164C>T (p.Ser55Leu) single nucleotide variant OGDH-related disorder [RCV003926141]|Oxoglutaricaciduria [RCV000961052]|not provided [RCV003432967] Chr7:44624507 [GRCh38]
Chr7:44664106 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.1900+7C>T single nucleotide variant Oxoglutaricaciduria [RCV003523032] Chr7:44696564 [GRCh38]
Chr7:44736163 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2904C>T (p.Tyr968=) single nucleotide variant Oxoglutaricaciduria [RCV000910727]|not provided [RCV003432902] Chr7:44707689 [GRCh38]
Chr7:44747288 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.474C>T (p.Asp158=) single nucleotide variant OGDH-related disorder [RCV003895464]|Oxoglutaricaciduria [RCV002539429] Chr7:44647716 [GRCh38]
Chr7:44687315 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.222+9C>T single nucleotide variant Oxoglutaricaciduria [RCV000921230] Chr7:44624574 [GRCh38]
Chr7:44664173 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.3051C>T (p.Asp1017=) single nucleotide variant Oxoglutaricaciduria [RCV002548309] Chr7:44707978 [GRCh38]
Chr7:44747577 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.2647C>A (p.Arg883=) single nucleotide variant not provided [RCV000886414] Chr7:44707239 [GRCh38]
Chr7:44746838 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.913G>A (p.Val305Met) single nucleotide variant Oxoglutaricaciduria [RCV001399291] Chr7:44674535 [GRCh38]
Chr7:44714134 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.904G>C (p.Val302Leu) single nucleotide variant Oxoglutaricaciduria [RCV001213578] Chr7:44674526 [GRCh38]
Chr7:44714125 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.622C>T (p.Arg208Cys) single nucleotide variant Oxoglutaricaciduria [RCV001205981] Chr7:44666840 [GRCh38]
Chr7:44706439 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2694C>T (p.Val898=) single nucleotide variant not provided [RCV000934326] Chr7:44707286 [GRCh38]
Chr7:44746885 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2802G>A (p.Ser934=) single nucleotide variant not provided [RCV001531040] Chr7:44707587 [GRCh38]
Chr7:44747186 [GRCh37]
Chr7:7p13		 likely benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002541.4(OGDH):c.2126A>G (p.Asn709Ser) single nucleotide variant Oxoglutaricaciduria [RCV001320584] Chr7:44697444 [GRCh38]
Chr7:44737043 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1011G>A (p.Leu337=) single nucleotide variant not provided [RCV001311275] Chr7:44675253 [GRCh38]
Chr7:44714852 [GRCh37]
Chr7:7p13		 likely benign
GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) copy number loss Syndactyly [RCV001352654] Chr7:41124364..47945566 [GRCh37]
Chr7:7p14.1-12.3		 pathogenic
GRCh37/hg19 7p13-12.2(chr7:43341583-50171623) copy number loss Intracranial hemorrhage [RCV001352658] Chr7:43341583..50171623 [GRCh37]
Chr7:7p13-12.2		 pathogenic
NM_002541.4(OGDH):c.1643G>C (p.Gly548Ala) single nucleotide variant Oxoglutaricaciduria [RCV001376123] Chr7:44694551 [GRCh38]
Chr7:44734150 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2422G>A (p.Val808Ile) single nucleotide variant Oxoglutaricaciduria [RCV001330741]|not provided [RCV004692533]|not specified [RCV004035703] Chr7:44698255 [GRCh38]
Chr7:44737854 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2811C>T (p.Pro937=) single nucleotide variant Oxoglutaricaciduria [RCV001488429] Chr7:44707596 [GRCh38]
Chr7:44747195 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1659T>C (p.Pro553=) single nucleotide variant OGDH-related disorder [RCV003963287]|Oxoglutaricaciduria [RCV001405672] Chr7:44694567 [GRCh38]
Chr7:44734166 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2444C>T (p.Ala815Val) single nucleotide variant Oxoglutaricaciduria [RCV003108442] Chr7:44700154 [GRCh38]
Chr7:44739753 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.959A>G (p.Asn320Ser) single nucleotide variant Oxoglutaricaciduria [RCV001806691] Chr7:44675201 [GRCh38]
Chr7:44714800 [GRCh37]
Chr7:7p13		 pathogenic
NM_002541.4(OGDH):c.1900+8G>A single nucleotide variant Oxoglutaricaciduria [RCV001896740] Chr7:44696565 [GRCh38]
Chr7:44736164 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.881T>C (p.Ile294Thr) single nucleotide variant Oxoglutaricaciduria [RCV001863891] Chr7:44674503 [GRCh38]
Chr7:44714102 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1456G>A (p.Val486Met) single nucleotide variant Oxoglutaricaciduria [RCV001985311] Chr7:44693945 [GRCh38]
Chr7:44733544 [GRCh37]
Chr7:7p13		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656) copy number loss not specified [RCV002053688] Chr7:40778439..50228656 [GRCh37]
Chr7:7p14.1-12.2		 pathogenic
NM_002541.4(OGDH):c.798G>T (p.Glu266Asp) single nucleotide variant Oxoglutaricaciduria [RCV001908475] Chr7:44674420 [GRCh38]
Chr7:44714019 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2433C>A (p.Asp811Glu) single nucleotide variant Oxoglutaricaciduria [RCV001984021]|not specified [RCV004045393] Chr7:44700143 [GRCh38]
Chr7:44739742 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.505A>G (p.Thr169Ala) single nucleotide variant Oxoglutaricaciduria [RCV001996880] Chr7:44647747 [GRCh38]
Chr7:44687346 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2849A>G (p.Asn950Ser) single nucleotide variant Oxoglutaricaciduria [RCV002038123] Chr7:44707634 [GRCh38]
Chr7:44747233 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2951+4A>G single nucleotide variant Oxoglutaricaciduria [RCV001867283] Chr7:44707740 [GRCh38]
Chr7:44747339 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.7C>T (p.His3Tyr) single nucleotide variant Oxoglutaricaciduria [RCV001876473]|not provided [RCV004693800] Chr7:44624350 [GRCh38]
Chr7:44663949 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1474G>T (p.Glu492Ter) single nucleotide variant Oxoglutaricaciduria [RCV001921893] Chr7:44693963 [GRCh38]
Chr7:44733562 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1803C>T (p.Ser601=) single nucleotide variant Oxoglutaricaciduria [RCV001991622] Chr7:44696460 [GRCh38]
Chr7:44736059 [GRCh37]
Chr7:7p13		 likely benign|uncertain significance
NM_002541.4(OGDH):c.2722G>A (p.Val908Met) single nucleotide variant Oxoglutaricaciduria [RCV001930633] Chr7:44707314 [GRCh38]
Chr7:44746913 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2031C>T (p.Asp677=) single nucleotide variant Oxoglutaricaciduria [RCV002190188] Chr7:44697044 [GRCh38]
Chr7:44736643 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2226C>T (p.Leu742=) single nucleotide variant Oxoglutaricaciduria [RCV002168952] Chr7:44697650 [GRCh38]
Chr7:44737249 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1032C>T (p.Ser344=) single nucleotide variant OGDH-related disorder [RCV003895963]|Oxoglutaricaciduria [RCV002145883] Chr7:44675975 [GRCh38]
Chr7:44715574 [GRCh37]
Chr7:7p13		 benign|likely benign
NM_002541.4(OGDH):c.1335+19C>T single nucleotide variant Oxoglutaricaciduria [RCV002109507] Chr7:44681867 [GRCh38]
Chr7:44721466 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1668+13G>A single nucleotide variant Oxoglutaricaciduria [RCV002173520] Chr7:44694589 [GRCh38]
Chr7:44734188 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.3012G>A (p.Thr1004=) single nucleotide variant Oxoglutaricaciduria [RCV002127860] Chr7:44707939 [GRCh38]
Chr7:44747538 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2632+16A>T single nucleotide variant Oxoglutaricaciduria [RCV002078428] Chr7:44701631 [GRCh38]
Chr7:44741230 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1146C>T (p.Pro382=) single nucleotide variant Oxoglutaricaciduria [RCV002173411] Chr7:44676089 [GRCh38]
Chr7:44715688 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.935+15G>A single nucleotide variant Oxoglutaricaciduria [RCV002123567] Chr7:44674572 [GRCh38]
Chr7:44714171 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.255C>T (p.Ala85=) single nucleotide variant Oxoglutaricaciduria [RCV002181946] Chr7:44645359 [GRCh38]
Chr7:44684958 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1440C>T (p.Pro480=) single nucleotide variant Oxoglutaricaciduria [RCV002119978] Chr7:44693929 [GRCh38]
Chr7:44733528 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1206+19C>A single nucleotide variant OGDH-related disorder [RCV003923623]|Oxoglutaricaciduria [RCV002120194]|not provided [RCV004584955] Chr7:44676168 [GRCh38]
Chr7:44715767 [GRCh37]
Chr7:7p13		 benign|likely benign
NM_002541.4(OGDH):c.1542C>T (p.Asn514=) single nucleotide variant OGDH-related disorder [RCV003971112]|Oxoglutaricaciduria [RCV002144541] Chr7:44694450 [GRCh38]
Chr7:44734049 [GRCh37]
Chr7:7p13		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_002541.4(OGDH):c.2761A>G (p.Met921Val) single nucleotide variant Oxoglutaricaciduria [RCV003133110] Chr7:44707353 [GRCh38]
Chr7:44746952 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.679G>C (p.Asp227His) single nucleotide variant not specified [RCV004307625] Chr7:44673832 [GRCh38]
Chr7:44713431 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1837A>G (p.Ile613Val) single nucleotide variant Oxoglutaricaciduria [RCV002298411] Chr7:44696494 [GRCh38]
Chr7:44736093 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.3011C>T (p.Thr1004Met) single nucleotide variant not specified [RCV004194950] Chr7:44707938 [GRCh38]
Chr7:44747537 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1901-8C>G single nucleotide variant Oxoglutaricaciduria [RCV002996426] Chr7:44696906 [GRCh38]
Chr7:44736505 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2619T>G (p.Asp873Glu) single nucleotide variant not specified [RCV004132852] Chr7:44701602 [GRCh38]
Chr7:44741201 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.18T>C (p.Thr6=) single nucleotide variant Oxoglutaricaciduria [RCV002614862] Chr7:44624361 [GRCh38]
Chr7:44663960 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1027-9C>T single nucleotide variant Oxoglutaricaciduria [RCV002756538] Chr7:44675961 [GRCh38]
Chr7:44715560 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2632+17T>C single nucleotide variant Oxoglutaricaciduria [RCV002947939] Chr7:44701632 [GRCh38]
Chr7:44741231 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.39A>G (p.Pro13=) single nucleotide variant Oxoglutaricaciduria [RCV003074830] Chr7:44624382 [GRCh38]
Chr7:44663981 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.89C>T (p.Ala30Val) single nucleotide variant Oxoglutaricaciduria [RCV002948643] Chr7:44624432 [GRCh38]
Chr7:44664031 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1936G>T (p.Val646Leu) single nucleotide variant Oxoglutaricaciduria [RCV002927959] Chr7:44696949 [GRCh38]
Chr7:44736548 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.80G>T (p.Arg27Ile) single nucleotide variant Oxoglutaricaciduria [RCV002952780] Chr7:44624423 [GRCh38]
Chr7:44664022 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.294C>T (p.Pro98=) single nucleotide variant Oxoglutaricaciduria [RCV002796008] Chr7:44645398 [GRCh38]
Chr7:44684997 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2145G>A (p.Val715=) single nucleotide variant OGDH-related disorder [RCV003961183]|Oxoglutaricaciduria [RCV002886538] Chr7:44697463 [GRCh38]
Chr7:44737062 [GRCh37]
Chr7:7p13		 benign|likely benign
NM_002541.4(OGDH):c.2459A>G (p.Asn820Ser) single nucleotide variant not specified [RCV004214108] Chr7:44700169 [GRCh38]
Chr7:44739768 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1026+6G>A single nucleotide variant Oxoglutaricaciduria [RCV003053061] Chr7:44675274 [GRCh38]
Chr7:44714873 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2834T>C (p.Val945Ala) single nucleotide variant Oxoglutaricaciduria [RCV003080546] Chr7:44707619 [GRCh38]
Chr7:44747218 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2051+6G>A single nucleotide variant Oxoglutaricaciduria [RCV003081233] Chr7:44697070 [GRCh38]
Chr7:44736669 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2447A>G (p.Asn816Ser) single nucleotide variant not specified [RCV004224616] Chr7:44700157 [GRCh38]
Chr7:44739756 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1595A>G (p.Lys532Arg) single nucleotide variant Oxoglutaricaciduria [RCV002933044]|not specified [RCV004067056] Chr7:44694503 [GRCh38]
Chr7:44734102 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2397G>A (p.Leu799=) single nucleotide variant Oxoglutaricaciduria [RCV002949116] Chr7:44698230 [GRCh38]
Chr7:44737829 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1171G>A (p.Glu391Lys) single nucleotide variant not specified [RCV004085461] Chr7:44676114 [GRCh38]
Chr7:44715713 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.415-14T>C single nucleotide variant Oxoglutaricaciduria [RCV003055097] Chr7:44647643 [GRCh38]
Chr7:44687242 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1979C>T (p.Ala660Val) single nucleotide variant Oxoglutaricaciduria [RCV002923819] Chr7:44696992 [GRCh38]
Chr7:44736591 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2743G>A (p.Glu915Lys) single nucleotide variant not specified [RCV004168137] Chr7:44707335 [GRCh38]
Chr7:44746934 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.3036G>A (p.Thr1012=) single nucleotide variant Oxoglutaricaciduria [RCV003084122] Chr7:44707963 [GRCh38]
Chr7:44747562 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.936-16C>T single nucleotide variant Oxoglutaricaciduria [RCV002958260] Chr7:44675162 [GRCh38]
Chr7:44714761 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2358+6C>T single nucleotide variant Oxoglutaricaciduria [RCV002745669] Chr7:44697788 [GRCh38]
Chr7:44737387 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1152G>A (p.Val384=) single nucleotide variant Oxoglutaricaciduria [RCV002928456] Chr7:44676095 [GRCh38]
Chr7:44715694 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.3068C>T (p.Ser1023Leu) single nucleotide variant Oxoglutaricaciduria [RCV003085558] Chr7:44707995 [GRCh38]
Chr7:44747594 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.770G>A (p.Arg257Lys) single nucleotide variant Oxoglutaricaciduria [RCV002574131] Chr7:44673923 [GRCh38]
Chr7:44713522 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1137C>T (p.Ala379=) single nucleotide variant Oxoglutaricaciduria [RCV002915068] Chr7:44676080 [GRCh38]
Chr7:44715679 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.1772-13C>G single nucleotide variant Oxoglutaricaciduria [RCV003088657] Chr7:44696416 [GRCh38]
Chr7:44736015 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2051+10T>C single nucleotide variant Oxoglutaricaciduria [RCV002602681] Chr7:44697074 [GRCh38]
Chr7:44736673 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.633+16G>C single nucleotide variant Oxoglutaricaciduria [RCV003049163] Chr7:44666867 [GRCh38]
Chr7:44706466 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.958A>G (p.Asn320Asp) single nucleotide variant Oxoglutaricaciduria [RCV002578910] Chr7:44675200 [GRCh38]
Chr7:44714799 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1817C>G (p.Ser606Cys) single nucleotide variant Oxoglutaricaciduria [RCV002806347] Chr7:44696474 [GRCh38]
Chr7:44736073 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2451C>T (p.Phe817=) single nucleotide variant Oxoglutaricaciduria [RCV002648156] Chr7:44700161 [GRCh38]
Chr7:44739760 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.610C>T (p.Arg204Trp) single nucleotide variant Oxoglutaricaciduria [RCV003061024] Chr7:44666828 [GRCh38]
Chr7:44706427 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2052-3C>T single nucleotide variant Oxoglutaricaciduria [RCV002720191] Chr7:44697367 [GRCh38]
Chr7:44736966 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2952-20C>T single nucleotide variant Oxoglutaricaciduria [RCV003090178] Chr7:44707859 [GRCh38]
Chr7:44747458 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2376C>T (p.Ser792=) single nucleotide variant Oxoglutaricaciduria [RCV002900349] Chr7:44698209 [GRCh38]
Chr7:44737808 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.405G>A (p.Arg135=) single nucleotide variant Oxoglutaricaciduria [RCV002598538] Chr7:44645509 [GRCh38]
Chr7:44685108 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.755G>A (p.Arg252Gln) single nucleotide variant Oxoglutaricaciduria [RCV002627900] Chr7:44673908 [GRCh38]
Chr7:44713507 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1771+16G>A single nucleotide variant Oxoglutaricaciduria [RCV003090065] Chr7:44696143 [GRCh38]
Chr7:44735742 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2997G>A (p.Lys999=) single nucleotide variant Oxoglutaricaciduria [RCV003088184] Chr7:44707924 [GRCh38]
Chr7:44747523 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1483A>C (p.Ser495Arg) single nucleotide variant Oxoglutaricaciduria [RCV003067747] Chr7:44693972 [GRCh38]
Chr7:44733571 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.267G>A (p.Pro89=) single nucleotide variant Oxoglutaricaciduria [RCV002654849] Chr7:44645371 [GRCh38]
Chr7:44684970 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.293C>T (p.Pro98Leu) single nucleotide variant Oxoglutaricaciduria [RCV003071901] Chr7:44645397 [GRCh38]
Chr7:44684996 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1901-3C>T single nucleotide variant Oxoglutaricaciduria [RCV002588547] Chr7:44696911 [GRCh38]
Chr7:44736510 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2283C>T (p.Phe761=) single nucleotide variant Oxoglutaricaciduria [RCV002609327] Chr7:44697707 [GRCh38]
Chr7:44737306 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.249G>A (p.Thr83=) single nucleotide variant Oxoglutaricaciduria [RCV003070186] Chr7:44645353 [GRCh38]
Chr7:44684952 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.71C>T (p.Ser24Leu) single nucleotide variant not specified [RCV004266334] Chr7:44624414 [GRCh38]
Chr7:44664013 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.890C>A (p.Ser297Tyr) single nucleotide variant Oxoglutaricaciduria [RCV003152437] Chr7:44674512 [GRCh38]
Chr7:44714111 [GRCh37]
Chr7:7p13		 pathogenic
NM_002541.4(OGDH):c.566C>T (p.Pro189Leu) single nucleotide variant Oxoglutaricaciduria [RCV003152438] Chr7:44666784 [GRCh38]
Chr7:44706383 [GRCh37]
Chr7:7p13		 pathogenic
NM_002541.4(OGDH):c.935G>A (p.Arg312Lys) single nucleotide variant Oxoglutaricaciduria [RCV003152439] Chr7:44674557 [GRCh38]
Chr7:44714156 [GRCh37]
Chr7:7p13		 pathogenic
NM_002541.4(OGDH):c.619A>T (p.Ile207Phe) single nucleotide variant not specified [RCV004279611] Chr7:44666837 [GRCh38]
Chr7:44706436 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1183T>C (p.Cys395Arg) single nucleotide variant not specified [RCV004350248] Chr7:44676126 [GRCh38]
Chr7:44715725 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.113G>A (p.Arg38Gln) single nucleotide variant not specified [RCV004339531] Chr7:44624456 [GRCh38]
Chr7:44664055 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2374T>G (p.Ser792Ala) single nucleotide variant not specified [RCV004363881] Chr7:44698207 [GRCh38]
Chr7:44737806 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.779G>A (p.Arg260Gln) single nucleotide variant not specified [RCV004338483] Chr7:44673932 [GRCh38]
Chr7:44713531 [GRCh37]
Chr7:7p13		 uncertain significance
GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1 copy number loss not provided [RCV003482956] Chr7:42516660..46202495 [GRCh37]
Chr7:7p14.1-12.3		 pathogenic
NM_002541.4(OGDH):c.1974C>T (p.Tyr658=) single nucleotide variant Oxoglutaricaciduria [RCV003524904] Chr7:44696987 [GRCh38]
Chr7:44736586 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2797-10T>C single nucleotide variant Oxoglutaricaciduria [RCV003523918] Chr7:44707572 [GRCh38]
Chr7:44747171 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1470G>C (p.Ala490=) single nucleotide variant Oxoglutaricaciduria [RCV003637123] Chr7:44693959 [GRCh38]
Chr7:44733558 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2526A>G (p.Leu842=) single nucleotide variant Oxoglutaricaciduria [RCV003636564] Chr7:44700236 [GRCh38]
Chr7:44739835 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1825C>G (p.Leu609Val) single nucleotide variant Oxoglutaricaciduria [RCV003840202] Chr7:44696482 [GRCh38]
Chr7:44736081 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2520C>T (p.His840=) single nucleotide variant Oxoglutaricaciduria [RCV003636605] Chr7:44700230 [GRCh38]
Chr7:44739829 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1317C>T (p.His439=) single nucleotide variant Oxoglutaricaciduria [RCV003523518] Chr7:44681830 [GRCh38]
Chr7:44721429 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1772-16G>A single nucleotide variant Oxoglutaricaciduria [RCV003636879] Chr7:44696413 [GRCh38]
Chr7:44736012 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.327T>C (p.His109=) single nucleotide variant Oxoglutaricaciduria [RCV003636678] Chr7:44645431 [GRCh38]
Chr7:44685030 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1992C>A (p.Leu664=) single nucleotide variant Oxoglutaricaciduria [RCV003522827] Chr7:44697005 [GRCh38]
Chr7:44736604 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1788C>T (p.Asp596=) single nucleotide variant Oxoglutaricaciduria [RCV003523742] Chr7:44696445 [GRCh38]
Chr7:44736044 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2632+7G>T single nucleotide variant Oxoglutaricaciduria [RCV003835868] Chr7:44701622 [GRCh38]
Chr7:44741221 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.414+20C>T single nucleotide variant Oxoglutaricaciduria [RCV003635449] Chr7:44645538 [GRCh38]
Chr7:44685137 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.1638G>A (p.Ser546=) single nucleotide variant Oxoglutaricaciduria [RCV003522278] Chr7:44694546 [GRCh38]
Chr7:44734145 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.414+13C>T single nucleotide variant Oxoglutaricaciduria [RCV003860556] Chr7:44645531 [GRCh38]
Chr7:44685130 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.45G>A (p.Thr15=) single nucleotide variant Oxoglutaricaciduria [RCV003637442] Chr7:44624388 [GRCh38]
Chr7:44663987 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.936-17T>G single nucleotide variant Oxoglutaricaciduria [RCV003637572] Chr7:44675161 [GRCh38]
Chr7:44714760 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1783C>T (p.Leu595=) single nucleotide variant Oxoglutaricaciduria [RCV003637749] Chr7:44696440 [GRCh38]
Chr7:44736039 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1995G>A (p.Leu665=) single nucleotide variant Oxoglutaricaciduria [RCV003820563] Chr7:44697008 [GRCh38]
Chr7:44736607 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.518-15C>T single nucleotide variant Oxoglutaricaciduria [RCV003637984] Chr7:44666721 [GRCh38]
Chr7:44706320 [GRCh37]
Chr7:7p13		 benign
NM_002541.4(OGDH):c.1980G>A (p.Ala660=) single nucleotide variant OGDH-related disorder [RCV003969443] Chr7:44696993 [GRCh38]
Chr7:44736592 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.936-8C>T single nucleotide variant OGDH-related disorder [RCV003947376] Chr7:44675170 [GRCh38]
Chr7:44714769 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.171T>C (p.Tyr57=) single nucleotide variant OGDH-related disorder [RCV003941942] Chr7:44624514 [GRCh38]
Chr7:44664113 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2051+9del deletion OGDH-related disorder [RCV003937349] Chr7:44697073 [GRCh38]
Chr7:44736672 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1396C>G (p.Arg466Gly) single nucleotide variant not specified [RCV004498976] Chr7:44693885 [GRCh38]
Chr7:44733484 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.552G>C (p.Lys184Asn) single nucleotide variant not specified [RCV004498981] Chr7:44666770 [GRCh38]
Chr7:44706369 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.130G>T (p.Val44Phe) single nucleotide variant not specified [RCV004498975] Chr7:44624473 [GRCh38]
Chr7:44664072 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2143G>T (p.Val715Leu) single nucleotide variant not specified [RCV004498979] Chr7:44697461 [GRCh38]
Chr7:44737060 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1927G>A (p.Gly643Arg) single nucleotide variant not specified [RCV004498978] Chr7:44696940 [GRCh38]
Chr7:44736539 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.161G>A (p.Ser54Asn) single nucleotide variant not specified [RCV004498977] Chr7:44624504 [GRCh38]
Chr7:44664103 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2711G>C (p.Cys904Ser) single nucleotide variant not specified [RCV004498980] Chr7:44707303 [GRCh38]
Chr7:44746902 [GRCh37]
Chr7:7p13		 uncertain significance
NC_000007.13:g.(?_43810758)_(45977174_?)del deletion not provided [RCV004578545] Chr7:43810758..45977174 [GRCh37]
Chr7:7p13-12.3		 uncertain significance
NM_002541.4(OGDH):c.2746C>T (p.Arg916Cys) single nucleotide variant not specified [RCV004646116] Chr7:44707338 [GRCh38]
Chr7:44746937 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.168C>A (p.Asn56Lys) single nucleotide variant not specified [RCV004646117] Chr7:44624511 [GRCh38]
Chr7:44664110 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2258C>T (p.Thr753Met) single nucleotide variant not specified [RCV004646118] Chr7:44697682 [GRCh38]
Chr7:44737281 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.808C>T (p.Arg270Trp) single nucleotide variant not specified [RCV004646119] Chr7:44674430 [GRCh38]
Chr7:44714029 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.8A>G (p.His3Arg) single nucleotide variant not provided [RCV004793063] Chr7:44624351 [GRCh38]
Chr7:44663950 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1591C>T (p.Arg531Cys) single nucleotide variant not provided [RCV004793064] Chr7:44694499 [GRCh38]
Chr7:44734098 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2559+4A>G single nucleotide variant OGDH-related disorder [RCV004757699] Chr7:44700273 [GRCh38]
Chr7:44739872 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.44C>T (p.Thr15Met) single nucleotide variant Oxoglutaricaciduria [RCV004771703] Chr7:44624387 [GRCh38]
Chr7:44663986 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1669-9A>G single nucleotide variant Oxoglutaricaciduria [RCV004719061] Chr7:44696016 [GRCh38]
Chr7:44735615 [GRCh37]
Chr7:7p13		 likely pathogenic
NM_002541.4(OGDH):c.523T>C (p.Tyr175His) single nucleotide variant not specified [RCV004834915] Chr7:44666741 [GRCh38]
Chr7:44706340 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1087G>A (p.Asp363Asn) single nucleotide variant not specified [RCV004843154] Chr7:44676030 [GRCh38]
Chr7:44715629 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.401T>A (p.Ile134Asn) single nucleotide variant not specified [RCV004843158] Chr7:44645505 [GRCh38]
Chr7:44685104 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2931C>G (p.Ile977Met) single nucleotide variant not specified [RCV004843159] Chr7:44707716 [GRCh38]
Chr7:44747315 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.915G>T (p.Val305=) single nucleotide variant Oxoglutaricaciduria [RCV005172511] Chr7:44674537 [GRCh38]
Chr7:44714136 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2669C>G (p.Pro890Arg) single nucleotide variant not specified [RCV004843153] Chr7:44707261 [GRCh38]
Chr7:44746860 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.722C>T (p.Pro241Leu) single nucleotide variant not specified [RCV004843155] Chr7:44673875 [GRCh38]
Chr7:44713474 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.1925G>A (p.Arg642His) single nucleotide variant not specified [RCV004843156] Chr7:44696938 [GRCh38]
Chr7:44736537 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.18T>G (p.Thr6=) single nucleotide variant Oxoglutaricaciduria [RCV005085781] Chr7:44624361 [GRCh38]
Chr7:44663960 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.935+17G>A single nucleotide variant Oxoglutaricaciduria [RCV005088993] Chr7:44674574 [GRCh38]
Chr7:44714173 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2738C>A (p.Thr913Asn) single nucleotide variant not specified [RCV004843157] Chr7:44707330 [GRCh38]
Chr7:44746929 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.485C>T (p.Pro162Leu) single nucleotide variant Oxoglutaricaciduria [RCV005185714] Chr7:44647727 [GRCh38]
Chr7:44687326 [GRCh37]
Chr7:7p13		 uncertain significance
NM_002541.4(OGDH):c.2727T>C (p.Tyr909=) single nucleotide variant Oxoglutaricaciduria [RCV005191423] Chr7:44707319 [GRCh38]
Chr7:44746918 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.518-14A>C single nucleotide variant Oxoglutaricaciduria [RCV005164499] Chr7:44666722 [GRCh38]
Chr7:44706321 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1473C>A (p.Ala491=) single nucleotide variant Oxoglutaricaciduria [RCV005159186] Chr7:44693962 [GRCh38]
Chr7:44733561 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.1116C>T (p.Ala372=) single nucleotide variant Oxoglutaricaciduria [RCV005083007] Chr7:44676059 [GRCh38]
Chr7:44715658 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.517+10T>C single nucleotide variant Oxoglutaricaciduria [RCV005071553] Chr7:44647769 [GRCh38]
Chr7:44687368 [GRCh37]
Chr7:7p13		 likely benign
NM_002541.4(OGDH):c.2958C>G (p.Ala986=) single nucleotide variant Oxoglutaricaciduria [RCV005179418] Chr7:44707885 [GRCh38]
Chr7:44747484 [GRCh37]
Chr7:7p13		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3221
Count of miRNA genes:847
Interacting mature miRNAs:1030
Transcripts:ENST00000222673, ENST00000419661, ENST00000439616, ENST00000443864, ENST00000444676, ENST00000447398, ENST00000449767, ENST00000459672, ENST00000497326, ENST00000543843
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1558711BP56_HBlood pressure QTL 56 (human)2.240.000002Blood pressuresystolic73634937162349371Human
597021189GWAS1117263_Hsystolic blood pressure change measurement QTL GWAS1117263 (human)0.0000003systolic blood pressure change measurementchange in systolic blood pressure (CMO:0000746)74469808044698081Human
597162674GWAS1258748_Hserine measurement QTL GWAS1258748 (human)0.000009serine measurementblood amino acid measurement (CMO:0003730)74467366544673666Human
597160605GWAS1256679_Hlipid measurement QTL GWAS1256679 (human)0.000002lipid measurementblood lipid measurement (CMO:0000050)74466609144666092Human
1559132SAPOB3_HSerum apolipoprotein B level QTL 3 (human)20.4Apolipoprotein levelapolipoprotein B73289107458891074Human
597162971GWAS1259045_Hornithine measurement QTL GWAS1259045 (human)0.000006ornithine measurementblood amino acid measurement (CMO:0003730)74467366544673666Human
2302781MAMTS16_HMammary tumor susceptibility QTL 16 (human)0.033Mammary tumor susceptibility73634937162349371Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human

Markers in Region
D7S2436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,719,992 - 44,720,067UniSTSGRCh37
GRCh37744,719,978 - 44,720,239UniSTSGRCh37
Build 36744,686,503 - 44,686,764RGDNCBI36
Celera744,818,836 - 44,818,911UniSTS
Celera744,818,822 - 44,819,083RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,605,148 - 44,605,223UniSTS
HuRef744,605,134 - 44,605,395UniSTS
CRA_TCAGchr7v2744,759,499 - 44,759,760UniSTS
CRA_TCAGchr7v2744,759,513 - 44,759,588UniSTS
Marshfield Genetic Map767.96UniSTS
Marshfield Genetic Map767.96RGD
Genethon Genetic Map768.9UniSTS
TNG Radiation Hybrid Map721897.0UniSTS
deCODE Assembly Map766.62UniSTS
Whitehead-YAC Contig Map7 UniSTS
GDB:1317390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,730,308 - 44,730,390UniSTSGRCh37
Build 36744,696,833 - 44,696,915RGDNCBI36
Celera744,829,152 - 44,829,234RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,615,371 - 44,615,453UniSTS
CRA_TCAGchr7v2744,769,829 - 44,769,911UniSTS
D7S2643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,748,550 - 44,748,653UniSTSGRCh37
Build 36744,715,075 - 44,715,178RGDNCBI36
Celera744,847,394 - 44,847,497RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,633,540 - 44,633,643UniSTS
CRA_TCAGchr7v2744,788,071 - 44,788,174UniSTS
GeneMap99-GB4 RH Map7208.58UniSTS
Whitehead-RH Map7163.2UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7646.1UniSTS
SHGC-171927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,653,854 - 44,654,196UniSTSGRCh37
Build 36744,620,379 - 44,620,721RGDNCBI36
Celera744,752,700 - 44,753,042RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,538,002 - 44,538,344UniSTS
CRA_TCAGchr7v2744,693,373 - 44,693,715UniSTS
TNG Radiation Hybrid Map721820.0UniSTS
GDB:4585311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,734,222 - 44,734,363UniSTSGRCh37
Build 36744,700,747 - 44,700,888RGDNCBI36
Celera744,833,066 - 44,833,207RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,619,285 - 44,619,426UniSTS
CRA_TCAGchr7v2744,773,743 - 44,773,884UniSTS
RH11783  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,748,338 - 44,748,486UniSTSGRCh37
Build 36744,714,863 - 44,715,011RGDNCBI36
Celera744,847,182 - 44,847,330RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,633,328 - 44,633,476UniSTS
CRA_TCAGchr7v2744,787,859 - 44,788,007UniSTS
GeneMap99-GB4 RH Map7210.35UniSTS
D7S2068E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,747,514 - 44,747,663UniSTSGRCh37
Build 36744,714,039 - 44,714,188RGDNCBI36
Celera744,846,358 - 44,846,507RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,632,504 - 44,632,653UniSTS
CRA_TCAGchr7v2744,787,035 - 44,787,184UniSTS
Stanford-G3 RH Map71984.0UniSTS
NCBI RH Map7660.6UniSTS
GeneMap99-G3 RH Map71984.0UniSTS
STS-T70286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,663,915 - 44,664,157UniSTSGRCh37
Build 36744,630,440 - 44,630,682RGDNCBI36
Celera744,762,758 - 44,763,000RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,549,076 - 44,549,318UniSTS
CRA_TCAGchr7v2744,703,431 - 44,703,673UniSTS
GeneMap99-GB4 RH Map7210.04UniSTS
NCBI RH Map7659.1UniSTS
STS-AA005110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,748,474 - 44,748,577UniSTSGRCh37
Build 36744,714,999 - 44,715,102RGDNCBI36
Celera744,847,318 - 44,847,421RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,633,464 - 44,633,567UniSTS
CRA_TCAGchr7v2744,787,995 - 44,788,098UniSTS
GeneMap99-GB4 RH Map7209.83UniSTS
NCBI RH Map7654.4UniSTS
GDB:1318360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,690,471 - 44,690,654UniSTSGRCh37
Build 36744,656,996 - 44,657,179RGDNCBI36
Celera744,789,315 - 44,789,498RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,575,625 - 44,575,808UniSTS
CRA_TCAGchr7v2744,729,988 - 44,730,171UniSTS
RH70029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,704,573 - 44,704,808UniSTSGRCh37
Build 36744,671,098 - 44,671,333RGDNCBI36
Celera744,803,417 - 44,803,652RGD
Cytogenetic Map7p14-p13UniSTS
HuRef744,589,727 - 44,589,962UniSTS
CRA_TCAGchr7v2744,744,090 - 44,744,325UniSTS
GeneMap99-GB4 RH Map7210.35UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
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Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
MARC_4335-4336:996679558:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,746,920 - 44,747,534UniSTSGRCh37
Celera744,845,764 - 44,846,378UniSTS
HuRef744,631,910 - 44,632,524UniSTS
CRA_TCAGchr7v2744,786,441 - 44,787,055UniSTS
D7S2436  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p14-p13UniSTS


Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001003941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001165036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI244565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU140451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM998792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU682361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D32064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC401267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ925674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000222673   ⟹   ENSP00000222673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,606,627 - 44,709,066 (+)Ensembl
Ensembl Acc Id: ENST00000419661   ⟹   ENSP00000411830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,606,595 - 44,666,851 (+)Ensembl
Ensembl Acc Id: ENST00000439616   ⟹   ENSP00000398576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,606,572 - 44,708,230 (+)Ensembl
Ensembl Acc Id: ENST00000443864   ⟹   ENSP00000388084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,606,588 - 44,676,594 (+)Ensembl
Ensembl Acc Id: ENST00000444676   ⟹   ENSP00000414662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,606,628 - 44,708,138 (+)Ensembl
Ensembl Acc Id: ENST00000447398   ⟹   ENSP00000388183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,606,627 - 44,709,066 (+)Ensembl
Ensembl Acc Id: ENST00000449767   ⟹   ENSP00000392878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,606,591 - 44,708,328 (+)Ensembl
Ensembl Acc Id: ENST00000459672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,666,621 - 44,675,245 (+)Ensembl
Ensembl Acc Id: ENST00000497326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,666,795 - 44,674,752 (+)Ensembl
Ensembl Acc Id: ENST00000631326   ⟹   ENSP00000486854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,606,628 - 44,708,994 (+)Ensembl
RefSeq Acc Id: NM_001003941   ⟹   NP_001003941
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,606,627 - 44,676,582 (+)NCBI
GRCh37744,646,104 - 44,748,669 (+)NCBI
Build 36744,612,696 - 44,682,720 (+)NCBI Archive
HuRef744,530,268 - 44,633,659 (+)ENTREZGENE
CHM1_1744,650,491 - 44,720,535 (+)NCBI
T2T-CHM13v2.0744,766,778 - 44,836,738 (+)NCBI
CRA_TCAGchr7v2744,685,639 - 44,788,190 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001165036   ⟹   NP_001158508
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,606,627 - 44,709,066 (+)NCBI
GRCh37744,646,104 - 44,748,669 (+)NCBI
HuRef744,530,268 - 44,633,659 (+)ENTREZGENE
CHM1_1744,650,491 - 44,752,987 (+)NCBI
T2T-CHM13v2.0744,766,778 - 44,869,231 (+)NCBI
CRA_TCAGchr7v2744,685,639 - 44,788,190 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001363523   ⟹   NP_001350452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,606,627 - 44,709,066 (+)NCBI
T2T-CHM13v2.0744,766,778 - 44,869,231 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002541   ⟹   NP_002532
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,606,627 - 44,709,066 (+)NCBI
GRCh37744,646,104 - 44,748,669 (+)NCBI
Build 36744,612,696 - 44,715,194 (+)NCBI Archive
HuRef744,530,268 - 44,633,659 (+)ENTREZGENE
CHM1_1744,650,491 - 44,752,987 (+)NCBI
T2T-CHM13v2.0744,766,778 - 44,869,231 (+)NCBI
CRA_TCAGchr7v2744,685,639 - 44,788,190 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005249759   ⟹   XP_005249816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,606,627 - 44,709,066 (+)NCBI
GRCh37744,646,104 - 44,748,669 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011515408   ⟹   XP_011513710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,606,627 - 44,709,066 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047420426   ⟹   XP_047276382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,613,852 - 44,709,066 (+)NCBI
RefSeq Acc Id: XM_047420427   ⟹   XP_047276383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,606,627 - 44,709,066 (+)NCBI
RefSeq Acc Id: XM_047420428   ⟹   XP_047276384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,606,627 - 44,709,066 (+)NCBI
RefSeq Acc Id: XM_047420429   ⟹   XP_047276385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,631,128 - 44,709,066 (+)NCBI
RefSeq Acc Id: XM_054358307   ⟹   XP_054214282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,766,778 - 44,869,231 (+)NCBI
RefSeq Acc Id: XM_054358308   ⟹   XP_054214283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,766,778 - 44,869,231 (+)NCBI
RefSeq Acc Id: XM_054358309   ⟹   XP_054214284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,774,007 - 44,869,231 (+)NCBI
RefSeq Acc Id: XM_054358310   ⟹   XP_054214285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,766,778 - 44,869,231 (+)NCBI
RefSeq Acc Id: XM_054358311   ⟹   XP_054214286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,766,778 - 44,869,231 (+)NCBI
RefSeq Acc Id: XM_054358312   ⟹   XP_054214287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,791,282 - 44,869,231 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001003941 (Get FASTA)   NCBI Sequence Viewer  
  NP_001158508 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350452 (Get FASTA)   NCBI Sequence Viewer  
  NP_002532 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249816 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513710 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276382 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276383 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276384 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276385 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214282 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214287 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH04964 (Get FASTA)   NCBI Sequence Viewer  
  AAH09580 (Get FASTA)   NCBI Sequence Viewer  
  AAH14617 (Get FASTA)   NCBI Sequence Viewer  
  AAI28550 (Get FASTA)   NCBI Sequence Viewer  
  AAI28551 (Get FASTA)   NCBI Sequence Viewer  
  AAQ96884 (Get FASTA)   NCBI Sequence Viewer  
  AAQ96885 (Get FASTA)   NCBI Sequence Viewer  
  ABL59900 (Get FASTA)   NCBI Sequence Viewer  
  ABL59901 (Get FASTA)   NCBI Sequence Viewer  
  AEE61042 (Get FASTA)   NCBI Sequence Viewer  
  BAA01393 (Get FASTA)   NCBI Sequence Viewer  
  BAA06836 (Get FASTA)   NCBI Sequence Viewer  
  BAG57261 (Get FASTA)   NCBI Sequence Viewer  
  BAG58026 (Get FASTA)   NCBI Sequence Viewer  
  BAG59067 (Get FASTA)   NCBI Sequence Viewer  
  BAG64007 (Get FASTA)   NCBI Sequence Viewer  
  BAG65261 (Get FASTA)   NCBI Sequence Viewer  
  BAG65461 (Get FASTA)   NCBI Sequence Viewer  
  EAW61086 (Get FASTA)   NCBI Sequence Viewer  
  EAW61087 (Get FASTA)   NCBI Sequence Viewer  
  EAW61088 (Get FASTA)   NCBI Sequence Viewer  
  EAW61089 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000222673
  ENSP00000222673.5
  ENSP00000388084
  ENSP00000388084.2
  ENSP00000388183
  ENSP00000388183.1
  ENSP00000392878
  ENSP00000392878.1
  ENSP00000398576.2
  ENSP00000411830.1
  ENSP00000414662
  ENSP00000414662.1
GenBank Protein Q02218 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001158508   ⟸   NM_001165036
- Peptide Label: isoform 3 precursor
- UniProtKB: B4DF00 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002532   ⟸   NM_002541
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96DD3 (UniProtKB/Swiss-Prot),   E9PBM1 (UniProtKB/Swiss-Prot),   D3DVL0 (UniProtKB/Swiss-Prot),   B4E2U9 (UniProtKB/Swiss-Prot),   Q9UDX0 (UniProtKB/Swiss-Prot),   Q02218 (UniProtKB/Swiss-Prot),   B4DF00 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001003941   ⟸   NM_001003941
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A140VJQ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249816   ⟸   XM_005249759
- Peptide Label: isoform X1
- UniProtKB: E9PCR7 (UniProtKB/TrEMBL),   B4DF00 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513710   ⟸   XM_011515408
- Peptide Label: isoform X1
- UniProtKB: E9PCR7 (UniProtKB/TrEMBL),   B4DF00 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350452   ⟸   NM_001363523
- Peptide Label: isoform 4 precursor
- UniProtKB: E9PDF2 (UniProtKB/TrEMBL),   B4DF00 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000398576   ⟸   ENST00000439616
Ensembl Acc Id: ENSP00000388084   ⟸   ENST00000443864
Ensembl Acc Id: ENSP00000411830   ⟸   ENST00000419661
Ensembl Acc Id: ENSP00000414662   ⟸   ENST00000444676
Ensembl Acc Id: ENSP00000222673   ⟸   ENST00000222673
Ensembl Acc Id: ENSP00000388183   ⟸   ENST00000447398
Ensembl Acc Id: ENSP00000486854   ⟸   ENST00000631326
Ensembl Acc Id: ENSP00000392878   ⟸   ENST00000449767
RefSeq Acc Id: XP_047276384   ⟸   XM_047420428
- Peptide Label: isoform X3
- UniProtKB: B4DF00 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276383   ⟸   XM_047420427
- Peptide Label: isoform X2
- UniProtKB: Q96DD3 (UniProtKB/Swiss-Prot),   Q02218 (UniProtKB/Swiss-Prot),   E9PBM1 (UniProtKB/Swiss-Prot),   D3DVL0 (UniProtKB/Swiss-Prot),   B4E2U9 (UniProtKB/Swiss-Prot),   Q9UDX0 (UniProtKB/Swiss-Prot),   B4DF00 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276382   ⟸   XM_047420426
- Peptide Label: isoform X1
- UniProtKB: B4DF00 (UniProtKB/TrEMBL),   E9PCR7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276385   ⟸   XM_047420429
- Peptide Label: isoform X4
- UniProtKB: B4DZ95 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214286   ⟸   XM_054358311
- Peptide Label: isoform X3
- UniProtKB: B4DF00 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214283   ⟸   XM_054358308
- Peptide Label: isoform X1
- UniProtKB: B4DF00 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214285   ⟸   XM_054358310
- Peptide Label: isoform X2
- UniProtKB: B4DF00 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214282   ⟸   XM_054358307
- Peptide Label: isoform X1
- UniProtKB: B4DF00 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214284   ⟸   XM_054358309
- Peptide Label: isoform X1
- UniProtKB: B4DF00 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214287   ⟸   XM_054358312
- Peptide Label: isoform X4
- UniProtKB: B4DZ95 (UniProtKB/TrEMBL),   B4DH65 (UniProtKB/TrEMBL)
Protein Domains
2-oxoglutarate dehydrogenase E1 component N-   Dehydrogenase E1 component   Transketolase-like pyrimidine-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02218-F1-model_v2 AlphaFold Q02218 1-1023 view protein structure

Promoters
RGD ID:7210521
Promoter ID:EPDNEW_H11007
Type:initiation region
Name:OGDH_1
Description:oxoglutarate dehydrogenase
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
GRCh38744,606,627 - 44,606,687EPDNEW
RGD ID:6805978
Promoter ID:HG_KWN:57260
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001165036,   OTTHUMT00000339393,   OTTHUMT00000339395,   OTTHUMT00000339396,   OTTHUMT00000339398,   UC003TLM.1,   UC003TLN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36744,612,426 - 44,612,926 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8124 AgrOrtholog
COSMIC OGDH COSMIC
Ensembl Genes ENSG00000105953 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222673 ENTREZGENE
  ENST00000222673.6 UniProtKB/Swiss-Prot
  ENST00000419661.5 UniProtKB/TrEMBL
  ENST00000439616.6 UniProtKB/TrEMBL
  ENST00000443864 ENTREZGENE
  ENST00000443864.6 UniProtKB/Swiss-Prot
  ENST00000444676 ENTREZGENE
  ENST00000444676.5 UniProtKB/TrEMBL
  ENST00000447398 ENTREZGENE
  ENST00000447398.6 UniProtKB/TrEMBL
  ENST00000449767 ENTREZGENE
  ENST00000449767.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.11610 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.12470 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.970 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPP helical domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105953 GTEx
HGNC ID HGNC:8124 ENTREZGENE
Human Proteome Map OGDH Human Proteome Map
InterPro 2-oxogl_dehyd_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2oxoglutarate_DH_E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH_E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KGD_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KGD_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THDP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transketolase-like_Pyr-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4967 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4967 ENTREZGENE
OMIM 613022 OMIM
PANTHER 2-OXOGLUTARATE DEHYDROGENASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23152 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 2-oxogl_dehyd_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E1_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OxoGdeHyase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transket_pyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31910 PharmGKB
PIRSF Oxoglu_dh_E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Transket_pyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52518 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJQ5 ENTREZGENE, UniProtKB/TrEMBL
  A2VCT2_HUMAN UniProtKB/TrEMBL
  A2VCT3_HUMAN UniProtKB/TrEMBL
  A5XEI0_HUMAN UniProtKB/TrEMBL
  A5XEI1_HUMAN UniProtKB/TrEMBL
  B4DF00 ENTREZGENE, UniProtKB/TrEMBL
  B4DH65 ENTREZGENE, UniProtKB/TrEMBL
  B4DZ95 ENTREZGENE, UniProtKB/TrEMBL
  B4E2U9 ENTREZGENE
  B4E3E9_HUMAN UniProtKB/TrEMBL
  C9J4G7_HUMAN UniProtKB/TrEMBL
  D3DVL0 ENTREZGENE
  E9PBM1 ENTREZGENE
  E9PCR7 ENTREZGENE, UniProtKB/TrEMBL
  E9PDF2 ENTREZGENE, UniProtKB/TrEMBL
  E9PFG7_HUMAN UniProtKB/TrEMBL
  ODO1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96DD3 ENTREZGENE
  Q9UDX0 ENTREZGENE
UniProt Secondary B4E2U9 UniProtKB/Swiss-Prot
  D3DVL0 UniProtKB/Swiss-Prot
  E9PBM1 UniProtKB/Swiss-Prot
  Q96DD3 UniProtKB/Swiss-Prot
  Q9UDX0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 OGDH  oxoglutarate dehydrogenase    oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)  Symbol and/or name change 5135510 APPROVED