DHODH (dihydroorotate dehydrogenase (quinone)) - Rat Genome Database

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Gene: DHODH (dihydroorotate dehydrogenase (quinone)) Homo sapiens
Analyze
Symbol: DHODH
Name: dihydroorotate dehydrogenase (quinone)
RGD ID: 68497
HGNC Page HGNC:2867
Description: Predicted to enable dihydroorotate dehydrogenase activity. Predicted to be involved in 'de novo' pyrimidine nucleobase biosynthetic process and pyrimidine ribonucleotide biosynthetic process. Located in cytosol; mitochondrion; and nucleoplasm. Implicated in postaxial acrofacial dysostosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DHOdehase; dihydroorotate dehydrogenase (quinone), mitochondrial; dihydroorotate dehydrogenase, mitochondrial; dihydroorotate oxidase; human complement of yeast URA1; POADS; URA1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381672,008,744 - 72,027,659 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1672,008,588 - 72,027,664 (+)EnsemblGRCh38hg38GRCh38
GRCh371672,042,643 - 72,061,558 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361670,600,144 - 70,616,456 (+)NCBINCBI36Build 36hg18NCBI36
Build 341670,600,163 - 70,616,456NCBI
Celera1656,356,753 - 56,373,075 (+)NCBICelera
Cytogenetic Map16q22.2NCBI
HuRef1657,809,449 - 57,826,108 (+)NCBIHuRef
CHM1_11673,455,964 - 73,472,648 (+)NCBICHM1_1
T2T-CHM13v2.01677,826,803 - 77,845,694 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Inhibition of the pyrimidine biosynthetic pathway with S-8660, an analogue of brequinar sodium, prolongs cardiac allograft survival in rats. Cramer DV, etal., J Heart Lung Transplant. 1993 Jan-Feb;12(1 Pt 1):140-6.
2. Cyclic modulation of enzymes of pyrimidine nucleotide biosynthesis precedes sialoglycoconjugate changes during 2-acetylaminofluorene-induced hepatocarcinogenesis in the rat. Elliott WL, etal., Biochim Biophys Acta. 1984 Jul 30;800(2):194-201.
3. Mammalian pyrimidine biosynthesis: fresh insights into an ancient pathway. Evans DR and Guy HI, J Biol Chem. 2004 Aug 6;279(32):33035-8. Epub 2004 Apr 19.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Inhibitor binding in a class 2 dihydroorotate dehydrogenase causes variations in the membrane-associated N-terminal domain. Hansen M, etal., Protein Sci. 2004 Apr;13(4):1031-42.
6. Protective and anti-arthritic effects of deer antler aqua-acupuncture (DAA), inhibiting dihydroorotate dehydrogenase, on phosphate ions-mediated chondrocyte apoptosis and rat collagen-induced arthritis. Kim KS, etal., Int Immunopharmacol. 2004 Jul;4(7):963-73.
7. Suppression of experimental autoimmune neuritis by leflunomide. Korn T, etal., Brain. 2001 Sep;124(Pt 9):1791-802.
8. Pyrimidine nucleotide synthesis in the rat kidney in early diabetes. Kunjara S, etal., Biochem Med Metab Biol. 1991 Oct;46(2):215-25.
9. Pyrimidine nucleotide synthesis in the rat mammary gland: changes in the lactation cycle and effects of diabetes. Kunjara S, etal., Biochem Med Metab Biol. 1992 Dec;48(3):263-74.
10. Oral administration of leflunomide (HWA486) results in prominent suppression of immunoglobulin E formation in a rat type 1 allergy model. Mizushima Y, etal., J Pharmacol Exp Ther. 1999 Feb;288(2):849-57.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1446837   PMID:7487077   PMID:8211381   PMID:8925840   PMID:9693067   PMID:10673429   PMID:10727948   PMID:11012787   PMID:11248707   PMID:12052230   PMID:12477932   PMID:14702039  
PMID:15489334   PMID:16341674   PMID:16344560   PMID:17004840   PMID:18672895   PMID:18951430   PMID:19207032   PMID:19605743   PMID:19915526   PMID:20220176   PMID:20399851   PMID:20877624  
PMID:21430780   PMID:21873635   PMID:21988832   PMID:22692683   PMID:22939629   PMID:22966891   PMID:22967083   PMID:23216091   PMID:26086954   PMID:26186194   PMID:27370710   PMID:28514442  
PMID:30033366   PMID:30442662   PMID:30449682   PMID:31370178   PMID:31841108   PMID:32151633   PMID:32296183   PMID:32694731   PMID:33060568   PMID:33510132   PMID:33961781   PMID:33981038  
PMID:34145214   PMID:34373451   PMID:35269583   PMID:35559673  


Genomics

Comparative Map Data
DHODH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381672,008,744 - 72,027,659 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1672,008,588 - 72,027,664 (+)EnsemblGRCh38hg38GRCh38
GRCh371672,042,643 - 72,061,558 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361670,600,144 - 70,616,456 (+)NCBINCBI36Build 36hg18NCBI36
Build 341670,600,163 - 70,616,456NCBI
Celera1656,356,753 - 56,373,075 (+)NCBICelera
Cytogenetic Map16q22.2NCBI
HuRef1657,809,449 - 57,826,108 (+)NCBIHuRef
CHM1_11673,455,964 - 73,472,648 (+)NCBICHM1_1
T2T-CHM13v2.01677,826,803 - 77,845,694 (+)NCBIT2T-CHM13v2.0
Dhodh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398110,319,876 - 110,335,330 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8110,317,975 - 110,335,305 (-)EnsemblGRCm39 Ensembl
GRCm388109,593,244 - 109,608,699 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8109,591,343 - 109,608,673 (-)EnsemblGRCm38mm10GRCm38
MGSCv378112,117,148 - 112,132,573 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368112,482,377 - 112,497,802 (-)NCBIMGSCv36mm8
Celera8113,818,789 - 113,834,192 (-)NCBICelera
Cytogenetic Map8D3NCBI
Dhodh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21937,551,858 - 37,573,327 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1937,558,177 - 37,591,654 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1944,372,421 - 44,386,399 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01945,025,749 - 45,039,726 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01947,335,351 - 47,349,222 (-)NCBIRnor_WKY
Rnor_6.01942,066,103 - 42,087,906 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1942,066,351 - 42,082,012 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01952,891,853 - 52,913,708 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41939,463,111 - 39,477,184 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11939,467,991 - 39,482,059 (-)NCBI
Celera1936,964,203 - 36,978,276 (-)NCBICelera
Cytogenetic Map19q12NCBI
Dhodh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554844,699,722 - 4,713,466 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554844,699,743 - 4,713,466 (+)NCBIChiLan1.0ChiLan1.0
DHODH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11671,854,238 - 71,870,673 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1671,854,238 - 71,870,673 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01652,977,879 - 52,994,496 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
DHODH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1577,756,411 - 77,766,207 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl577,756,407 - 77,774,090 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha577,718,144 - 77,727,932 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0578,195,768 - 78,205,557 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl578,195,854 - 78,239,419 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1578,015,829 - 78,025,617 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0577,838,711 - 77,848,499 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0578,337,853 - 78,347,642 (+)NCBIUU_Cfam_GSD_1.0
Dhodh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934937,711,350 - 37,725,488 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493647521,863,627 - 21,877,660 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DHODH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl614,942,933 - 14,955,997 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1614,942,898 - 14,956,000 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2614,563,531 - 14,574,102 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DHODH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1555,161,788 - 55,177,383 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl555,161,916 - 55,180,896 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604717,957,062 - 17,973,450 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dhodh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474614,254,193 - 14,268,034 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474614,254,811 - 14,268,034 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
SHGC-61050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371672,058,056 - 72,058,240UniSTSGRCh37
Build 361670,615,557 - 70,615,741RGDNCBI36
Celera1656,372,177 - 56,372,361RGD
Cytogenetic Map16q22UniSTS
HuRef1657,824,853 - 57,825,037UniSTS
GeneMap99-GB4 RH Map16427.18UniSTS
NCBI RH Map16557.9UniSTS
RH98941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371672,050,875 - 72,050,998UniSTSGRCh37
Build 361670,608,376 - 70,608,499RGDNCBI36
Celera1656,364,985 - 56,365,108RGD
Cytogenetic Map16q22UniSTS
HuRef1657,817,680 - 57,817,803UniSTS
GeneMap99-GB4 RH Map16434.6UniSTS
D16S2969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371672,058,165 - 72,058,290UniSTSGRCh37
Build 361670,615,666 - 70,615,791RGDNCBI36
Celera1656,372,286 - 56,372,411RGD
Cytogenetic Map16q22UniSTS
HuRef1657,824,962 - 57,825,087UniSTS
Whitehead-YAC Contig Map16 UniSTS
DHODH_4702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371672,058,352 - 72,058,942UniSTSGRCh37
Build 361670,615,853 - 70,616,443RGDNCBI36
Celera1656,372,473 - 56,373,062RGD
HuRef1657,825,149 - 57,825,734UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2467
Count of miRNA genes:906
Interacting mature miRNAs:1074
Transcripts:ENST00000219240, ENST00000571288, ENST00000571392, ENST00000572003, ENST00000572887, ENST00000573843, ENST00000573922, ENST00000574309, ENST00000576145
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 60 93 412 385 368 386 128 10 84 70 150 123 1 64 30
Low 2378 2723 1313 239 1438 79 4228 2157 3633 349 1310 1490 173 1 1140 2758 6 2
Below cutoff 1 175 1 145 30 17

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI499306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU130529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU152444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE789211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI253747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM795077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M94065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000219240   ⟹   ENSP00000219240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1672,008,744 - 72,027,659 (+)Ensembl
RefSeq Acc Id: ENST00000571288   ⟹   ENSP00000464249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1672,008,778 - 72,017,079 (+)Ensembl
RefSeq Acc Id: ENST00000571392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1672,015,623 - 72,024,512 (+)Ensembl
RefSeq Acc Id: ENST00000572003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1672,014,419 - 72,021,231 (+)Ensembl
RefSeq Acc Id: ENST00000572887   ⟹   ENSP00000461848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1672,008,588 - 72,027,664 (+)Ensembl
RefSeq Acc Id: ENST00000573843
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1672,014,451 - 72,021,192 (+)Ensembl
RefSeq Acc Id: ENST00000573922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1672,012,233 - 72,023,278 (+)Ensembl
RefSeq Acc Id: ENST00000574309   ⟹   ENSP00000460966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1672,008,769 - 72,024,238 (+)Ensembl
RefSeq Acc Id: ENST00000576145   ⟹   ENSP00000464333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1672,008,801 - 72,017,106 (+)Ensembl
RefSeq Acc Id: NM_001361   ⟹   NP_001352
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381672,008,744 - 72,027,659 (+)NCBI
GRCh371672,042,643 - 72,059,316 (+)NCBI
Build 361670,600,144 - 70,616,456 (+)NCBI Archive
HuRef1657,809,449 - 57,826,108 (+)NCBI
CHM1_11673,455,964 - 73,472,648 (+)NCBI
T2T-CHM13v2.01677,826,803 - 77,845,694 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255829   ⟹   XP_005255886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381672,015,731 - 72,027,659 (+)NCBI
GRCh371672,042,643 - 72,059,316 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433674   ⟹   XP_047289630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381672,008,744 - 72,027,659 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_001352   ⟸   NM_001361
- UniProtKB: Q6P176 (UniProtKB/Swiss-Prot),   Q02127 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255886   ⟸   XM_005255829
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000464249   ⟸   ENST00000571288
RefSeq Acc Id: ENSP00000461848   ⟸   ENST00000572887
RefSeq Acc Id: ENSP00000219240   ⟸   ENST00000219240
RefSeq Acc Id: ENSP00000460966   ⟸   ENST00000574309
RefSeq Acc Id: ENSP00000464333   ⟸   ENST00000576145
RefSeq Acc Id: XP_047289630   ⟸   XM_047433674
- Peptide Label: isoform X1
Protein Domains
DHO_dh

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02127-F1-model_v2 AlphaFold Q02127 1-395 view protein structure

Promoters
RGD ID:6792958
Promoter ID:HG_KWN:24217
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000378782,   NM_001361
Position:
Human AssemblyChrPosition (strand)Source
Build 361670,599,881 - 70,600,381 (+)MPROMDB
RGD ID:7232797
Promoter ID:EPDNEW_H22144
Type:multiple initiation site
Name:DHODH_1
Description:dihydroorotate 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
GRCh381672,008,750 - 72,008,810EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001361.5(DHODH):c.611del (p.Leu204fs) deletion Miller syndrome [RCV000018298] Chr16:72021217 [GRCh38]
Chr16:72055116 [GRCh37]
Chr16:16q22.2
pathogenic
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp) single nucleotide variant Miller syndrome [RCV000018291]|not provided [RCV002225267] Chr16:72023536 [GRCh38]
Chr16:72057435 [GRCh37]
Chr16:16q22.2
pathogenic|likely pathogenic
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) single nucleotide variant Miller syndrome [RCV000018292]|not provided [RCV000316778] Chr16:72014641 [GRCh38]
Chr16:72048540 [GRCh37]
Chr16:16q22.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001361.5(DHODH):c.56G>A (p.Gly19Glu) single nucleotide variant Miller syndrome [RCV000018293]|not provided [RCV000386653] Chr16:72012084 [GRCh38]
Chr16:72045983 [GRCh37]
Chr16:16q22.2
pathogenic|uncertain significance
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) single nucleotide variant Miller syndrome [RCV000018294]|not provided [RCV001851907] Chr16:72017043 [GRCh38]
Chr16:72050942 [GRCh37]
Chr16:16q22.2
pathogenic|uncertain significance
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala) single nucleotide variant Miller syndrome [RCV000018295] Chr16:72021211 [GRCh38]
Chr16:72055110 [GRCh37]
Chr16:16q22.2
pathogenic
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp) single nucleotide variant Miller syndrome [RCV000018296] Chr16:72021211 [GRCh38]
Chr16:72055110 [GRCh37]
Chr16:16q22.2
pathogenic
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp) single nucleotide variant Miller syndrome [RCV000018297] Chr16:72022386 [GRCh38]
Chr16:72056285 [GRCh37]
Chr16:16q22.2
pathogenic
NM_001361.5(DHODH):c.595C>T (p.Arg199Cys) single nucleotide variant Miller syndrome [RCV000018299] Chr16:72021201 [GRCh38]
Chr16:72055100 [GRCh37]
Chr16:16q22.2
pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 copy number loss See cases [RCV000053356] Chr16:69918076..76723348 [GRCh38]
Chr16:69951979..76757245 [GRCh37]
Chr16:68509480..75314746 [NCBI36]
Chr16:16q22.1-23.1
pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1 copy number loss See cases [RCV000053337] Chr16:68698941..74353205 [GRCh38]
Chr16:68732844..74387103 [GRCh37]
Chr16:67290345..72944604 [NCBI36]
Chr16:16q22.1-23.1
pathogenic
GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3 copy number gain See cases [RCV000053867] Chr16:71279916..73246687 [GRCh38]
Chr16:71313819..73280586 [GRCh37]
Chr16:69871320..71838087 [NCBI36]
Chr16:16q22.2-22.3
uncertain significance
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val) single nucleotide variant Miller syndrome [RCV000394797]|not provided [RCV001536204]|not specified [RCV000116874] Chr16:72023522 [GRCh38]
Chr16:72057421 [GRCh37]
Chr16:16q22.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) single nucleotide variant Miller syndrome [RCV000321810]|not provided [RCV001675621]|not specified [RCV000116875] Chr16:72008783 [GRCh38]
Chr16:72042682 [GRCh37]
Chr16:16q22.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1 copy number loss See cases [RCV000133814] Chr16:70414573..84908120 [GRCh38]
Chr16:70448476..84941726 [GRCh37]
Chr16:69005977..83499227 [NCBI36]
Chr16:16q22.1-24.1
pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 copy number gain See cases [RCV000142038] Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1 copy number loss Ductal breast carcinoma [RCV000207278] Chr16:71103288..72092204 [GRCh37]
Chr16:16q22.2
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_001361.5(DHODH):c.294C>T (p.Asp98=) single nucleotide variant Miller syndrome [RCV000372598]|not provided [RCV000906107]|not specified [RCV000246224] Chr16:72014532 [GRCh38]
Chr16:72048431 [GRCh37]
Chr16:16q22.2
benign|likely benign|uncertain significance
NM_001361.5(DHODH):c.573G>A (p.Ala191=) single nucleotide variant Miller syndrome [RCV000390217]|not provided [RCV002058030]|not specified [RCV000249129] Chr16:72021179 [GRCh38]
Chr16:72055078 [GRCh37]
Chr16:16q22.2
benign|likely benign|uncertain significance
NM_001361.5(DHODH):c.*1171T>C single nucleotide variant Miller syndrome [RCV000282035] Chr16:72025370 [GRCh38]
Chr16:72059269 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.*189C>T single nucleotide variant Miller syndrome [RCV000302992] Chr16:72024388 [GRCh38]
Chr16:72058287 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.681C>T (p.Ala227=) single nucleotide variant Miller syndrome [RCV000268177] Chr16:72021287 [GRCh38]
Chr16:72055186 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*14C>T single nucleotide variant Miller syndrome [RCV000287502] Chr16:72024213 [GRCh38]
Chr16:72058112 [GRCh37]
Chr16:16q22.2
likely benign|uncertain significance
NM_001361.5(DHODH):c.682G>A (p.Glu228Lys) single nucleotide variant Miller syndrome [RCV000304566] Chr16:72021288 [GRCh38]
Chr16:72055187 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*841G>A single nucleotide variant Miller syndrome [RCV000289042] Chr16:72025040 [GRCh38]
Chr16:72058939 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*748C>T single nucleotide variant Miller syndrome [RCV000275116] Chr16:72024947 [GRCh38]
Chr16:72058846 [GRCh37]
Chr16:16q22.2
benign|uncertain significance
NM_001361.5(DHODH):c.*574G>T single nucleotide variant Miller syndrome [RCV000259960] Chr16:72024773 [GRCh38]
Chr16:72058672 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.890G>A (p.Arg297His) single nucleotide variant Miller syndrome [RCV000295409] Chr16:72023235 [GRCh38]
Chr16:72057134 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.804C>T (p.Ala268=) single nucleotide variant Miller syndrome [RCV000264574]|not provided [RCV000996306] Chr16:72022460 [GRCh38]
Chr16:72056359 [GRCh37]
Chr16:16q22.2
conflicting interpretations of pathogenicity|uncertain significance
NM_001361.5(DHODH):c.72C>T (p.Phe24=) single nucleotide variant Miller syndrome [RCV000281647]|not provided [RCV000888842] Chr16:72012100 [GRCh38]
Chr16:72045999 [GRCh37]
Chr16:16q22.2
benign|likely benign|uncertain significance
NM_001361.5(DHODH):c.1009A>T (p.Ser337Cys) single nucleotide variant Miller syndrome [RCV000345987] Chr16:72023509 [GRCh38]
Chr16:72057408 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*612T>C single nucleotide variant Miller syndrome [RCV000369769] Chr16:72024811 [GRCh38]
Chr16:72058710 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_001361.5(DHODH):c.492G>T (p.Gln164His) single nucleotide variant Miller syndrome [RCV000396115] Chr16:72017081 [GRCh38]
Chr16:72050980 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*980A>G single nucleotide variant Miller syndrome [RCV000325448] Chr16:72025179 [GRCh38]
Chr16:72059078 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.570C>T (p.Ala190=) single nucleotide variant Miller syndrome [RCV000348001] Chr16:72021176 [GRCh38]
Chr16:72055075 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.820T>C (p.Leu274=) single nucleotide variant Miller syndrome [RCV000261533] Chr16:72023165 [GRCh38]
Chr16:72057064 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*139C>T single nucleotide variant Miller syndrome [RCV000398327] Chr16:72024338 [GRCh38]
Chr16:72058237 [GRCh37]
Chr16:16q22.2
likely benign|uncertain significance
NM_001361.5(DHODH):c.*1088T>C single nucleotide variant Miller syndrome [RCV000399030] Chr16:72025287 [GRCh38]
Chr16:72059186 [GRCh37]
Chr16:16q22.2
likely benign|uncertain significance
NM_001361.5(DHODH):c.807T>A (p.Ser269Arg) single nucleotide variant Miller syndrome [RCV000320171] Chr16:72022463 [GRCh38]
Chr16:72056362 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.819+10G>A single nucleotide variant Miller syndrome [RCV000374829]|not provided [RCV000947715] Chr16:72022485 [GRCh38]
Chr16:72056384 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_001361.5(DHODH):c.655G>A (p.Gly219Arg) single nucleotide variant Miller syndrome [RCV000308391] Chr16:72021261 [GRCh38]
Chr16:72055160 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*783A>G single nucleotide variant Miller syndrome [RCV000330213] Chr16:72024982 [GRCh38]
Chr16:72058881 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.457C>A (p.Leu153Ile) single nucleotide variant Miller syndrome [RCV000351984]|not provided [RCV000969305] Chr16:72017046 [GRCh38]
Chr16:72050945 [GRCh37]
Chr16:16q22.2
benign|uncertain significance
NM_001361.5(DHODH):c.22-11C>T single nucleotide variant Miller syndrome [RCV000376200] Chr16:72012039 [GRCh38]
Chr16:72045938 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*404G>A single nucleotide variant Miller syndrome [RCV000402335] Chr16:72024603 [GRCh38]
Chr16:72058502 [GRCh37]
Chr16:16q22.2
benign|uncertain significance
NM_001361.5(DHODH):c.949C>T (p.Arg317Trp) single nucleotide variant Miller syndrome [RCV000331720]|not provided [RCV001351702] Chr16:72023294 [GRCh38]
Chr16:72057193 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*569G>A single nucleotide variant Miller syndrome [RCV000354439] Chr16:72024768 [GRCh38]
Chr16:72058667 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_001361.5(DHODH):c.*1014C>T single nucleotide variant Miller syndrome [RCV000380070] Chr16:72025213 [GRCh38]
Chr16:72059112 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_001361.5(DHODH):c.517+8G>A single nucleotide variant Miller syndrome [RCV000312330] Chr16:72017114 [GRCh38]
Chr16:72051013 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*595C>T single nucleotide variant Miller syndrome [RCV000333849] Chr16:72024794 [GRCh38]
Chr16:72058693 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_001361.5(DHODH):c.*252C>T single nucleotide variant Miller syndrome [RCV000357752] Chr16:72024451 [GRCh38]
Chr16:72058350 [GRCh37]
Chr16:16q22.2
likely benign|uncertain significance
NM_001361.5(DHODH):c.753C>A (p.Val251=) single nucleotide variant Miller syndrome [RCV000359291]|not provided [RCV000977892] Chr16:72022409 [GRCh38]
Chr16:72056308 [GRCh37]
Chr16:16q22.2
likely benign|uncertain significance
NM_001361.5(DHODH):c.154G>C (p.Glu52Gln) single nucleotide variant Miller syndrome [RCV000336666] Chr16:72012182 [GRCh38]
Chr16:72046081 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*1174T>G single nucleotide variant Miller syndrome [RCV000336735] Chr16:72025373 [GRCh38]
Chr16:72059272 [GRCh37]
Chr16:16q22.2
likely benign|uncertain significance
NM_001361.5(DHODH):c.869C>T (p.Ala290Val) single nucleotide variant Miller syndrome [RCV000316708] Chr16:72023214 [GRCh38]
Chr16:72057113 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.666C>G (p.Ser222Arg) single nucleotide variant Miller syndrome [RCV000363081] Chr16:72021272 [GRCh38]
Chr16:72055171 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*1051A>G single nucleotide variant Miller syndrome [RCV000340401] Chr16:72025250 [GRCh38]
Chr16:72059149 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.881G>A (p.Gly294Asp) single nucleotide variant Miller syndrome [RCV000389707] Chr16:72023226 [GRCh38]
Chr16:72057125 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys) single nucleotide variant Miller syndrome [RCV000291096] Chr16:72023304 [GRCh38]
Chr16:72057203 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*819A>G single nucleotide variant Miller syndrome [RCV000383523] Chr16:72025018 [GRCh38]
Chr16:72058917 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.959A>C (p.Tyr320Ser) single nucleotide variant Miller syndrome [RCV000386290] Chr16:72023304 [GRCh38]
Chr16:72057203 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*1035_*1038del deletion Miller syndrome [RCV000285392] Chr16:72025232..72025235 [GRCh38]
Chr16:72059131..72059134 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.4(DHODH):c.-29A>G single nucleotide variant Miller syndrome [RCV000368784]|not provided [RCV001618680] Chr16:72008736 [GRCh38]
Chr16:72042635 [GRCh37]
Chr16:16q22.2
benign|likely benign
NM_001361.5(DHODH):c.*500G>A single nucleotide variant Miller syndrome [RCV000299551] Chr16:72024699 [GRCh38]
Chr16:72058598 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*64C>G single nucleotide variant Miller syndrome [RCV000342652] Chr16:72024263 [GRCh38]
Chr16:72058162 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*645T>C single nucleotide variant Miller syndrome [RCV001120649] Chr16:72024844 [GRCh38]
Chr16:72058743 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*795C>T single nucleotide variant Miller syndrome [RCV001120650] Chr16:72024994 [GRCh38]
Chr16:72058893 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.14A>G (p.His5Arg) single nucleotide variant Miller syndrome [RCV001120459] Chr16:72008778 [GRCh38]
Chr16:72042677 [GRCh37]
Chr16:16q22.2
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q22.2(chr16:71218580-72049481)x1 copy number loss See cases [RCV000447076] Chr16:71218580..72049481 [GRCh37]
Chr16:16q22.2
uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1 copy number loss not provided [RCV000683827] Chr16:70646969..72849701 [GRCh37]
Chr16:16q22.1-22.2
likely pathogenic
GRCh37/hg19 16q22.2-22.3(chr16:71561717-73724195)x1 copy number loss not provided [RCV000683830] Chr16:71561717..73724195 [GRCh37]
Chr16:16q22.2-22.3
likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
Single allele single nucleotide variant not provided [RCV001610012] Chr16:72008543 [GRCh38]
Chr16:72042442 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.435-38G>C single nucleotide variant Miller syndrome [RCV001661394]|not provided [RCV001720332] Chr16:72016986 [GRCh38]
Chr16:72050885 [GRCh37]
Chr16:16q22.2
benign
GRCh37/hg19 16q22.2(chr16:72042428-72042825)x0 copy number loss not provided [RCV000751736] Chr16:72042428..72042825 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.780C>T (p.Thr260=) single nucleotide variant not provided [RCV000925930] Chr16:72022436 [GRCh38]
Chr16:72056335 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.153G>A (p.Pro51=) single nucleotide variant not provided [RCV000971951] Chr16:72012181 [GRCh38]
Chr16:72046080 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.820-10C>T single nucleotide variant not provided [RCV000924508] Chr16:72023155 [GRCh38]
Chr16:72057054 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.1149C>T (p.Gly383=) single nucleotide variant not provided [RCV000918359] Chr16:72024160 [GRCh38]
Chr16:72058059 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.453C>T (p.His151=) single nucleotide variant not provided [RCV000980272] Chr16:72017042 [GRCh38]
Chr16:72050941 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.765C>T (p.Ile255=) single nucleotide variant Miller syndrome [RCV001120251]|not provided [RCV000891618] Chr16:72022421 [GRCh38]
Chr16:72056320 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.505A>C (p.Lys169Gln) single nucleotide variant Miller syndrome [RCV001116981] Chr16:72017094 [GRCh38]
Chr16:72050993 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*144G>A single nucleotide variant Miller syndrome [RCV001117070] Chr16:72024343 [GRCh38]
Chr16:72058242 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.983C>T (p.Pro328Leu) single nucleotide variant Miller syndrome [RCV001115643]|not provided [RCV001593277] Chr16:72023483 [GRCh38]
Chr16:72057382 [GRCh37]
Chr16:16q22.2
benign|uncertain significance
NM_001361.5(DHODH):c.1043G>C (p.Gly348Ala) single nucleotide variant Miller syndrome [RCV001115645] Chr16:72023543 [GRCh38]
Chr16:72057442 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*341C>T single nucleotide variant Miller syndrome [RCV001118701] Chr16:72024540 [GRCh38]
Chr16:72058439 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.1048T>G (p.Ser350Ala) single nucleotide variant Miller syndrome [RCV001117069] Chr16:72023548 [GRCh38]
Chr16:72057447 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*216G>A single nucleotide variant Miller syndrome [RCV001117071] Chr16:72024415 [GRCh38]
Chr16:72058314 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*372C>T single nucleotide variant Miller syndrome [RCV001118703] Chr16:72024571 [GRCh38]
Chr16:72058470 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.973+11C>T single nucleotide variant Miller syndrome [RCV001115642] Chr16:72023329 [GRCh38]
Chr16:72057228 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*868A>G single nucleotide variant Miller syndrome [RCV001115733] Chr16:72025067 [GRCh38]
Chr16:72058966 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.705+126C>A single nucleotide variant not provided [RCV001641486] Chr16:72021437 [GRCh38]
Chr16:72055336 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.234+50G>T single nucleotide variant not provided [RCV001715524] Chr16:72012312 [GRCh38]
Chr16:72046211 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.234+144T>G single nucleotide variant not provided [RCV001714073] Chr16:72012406 [GRCh38]
Chr16:72046305 [GRCh37]
Chr16:16q22.2
benign
Single allele single nucleotide variant not provided [RCV001652652] Chr16:72008534 [GRCh38]
Chr16:72042433 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.541T>C (p.Leu181=) single nucleotide variant not provided [RCV000909002] Chr16:72021147 [GRCh38]
Chr16:72055046 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.747G>A (p.Pro249=) single nucleotide variant not provided [RCV000977915] Chr16:72022403 [GRCh38]
Chr16:72056302 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.90C>A (p.Ala30=) single nucleotide variant not provided [RCV000885566] Chr16:72012118 [GRCh38]
Chr16:72046017 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.1020C>T (p.Asp340=) single nucleotide variant Miller syndrome [RCV001115644]|not provided [RCV000948440] Chr16:72023520 [GRCh38]
Chr16:72057419 [GRCh37]
Chr16:16q22.2
likely benign|uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_001361.5(DHODH):c.498G>A (p.Lys166=) single nucleotide variant Miller syndrome [RCV001116980] Chr16:72017087 [GRCh38]
Chr16:72050986 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.518-39G>T single nucleotide variant Miller syndrome [RCV001658310]|not provided [RCV001596009] Chr16:72021085 [GRCh38]
Chr16:72054984 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.235-292G>T single nucleotide variant not provided [RCV001722675] Chr16:72014181 [GRCh38]
Chr16:72048080 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.234+107C>G single nucleotide variant not provided [RCV001676674] Chr16:72012369 [GRCh38]
Chr16:72046268 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.973+65A>G single nucleotide variant not provided [RCV001693079] Chr16:72023383 [GRCh38]
Chr16:72057282 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.21+276G>A single nucleotide variant not provided [RCV001647865] Chr16:72009061 [GRCh38]
Chr16:72042960 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.434+61A>G single nucleotide variant not provided [RCV001648855] Chr16:72014733 [GRCh38]
Chr16:72048632 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.235-40T>C single nucleotide variant not provided [RCV001683767] Chr16:72014433 [GRCh38]
Chr16:72048332 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.21+141T>G single nucleotide variant not provided [RCV001609699] Chr16:72008926 [GRCh38]
Chr16:72042825 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.234+40G>A single nucleotide variant not provided [RCV001545815] Chr16:72012302 [GRCh38]
Chr16:72046201 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.606C>T (p.Gly202=) single nucleotide variant Miller syndrome [RCV001120250] Chr16:72021212 [GRCh38]
Chr16:72055111 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*383G>A single nucleotide variant Miller syndrome [RCV001118704] Chr16:72024582 [GRCh38]
Chr16:72058481 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.72C>G (p.Phe24Leu) single nucleotide variant Miller syndrome [RCV001115551] Chr16:72012100 [GRCh38]
Chr16:72045999 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.73G>A (p.Ala25Thr) single nucleotide variant Miller syndrome [RCV001115552] Chr16:72012101 [GRCh38]
Chr16:72046000 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*936T>C single nucleotide variant Miller syndrome [RCV001115734] Chr16:72025135 [GRCh38]
Chr16:72059034 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.*349A>C single nucleotide variant Miller syndrome [RCV001118702] Chr16:72024548 [GRCh38]
Chr16:72058447 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.518-11G>A single nucleotide variant Miller syndrome [RCV001116982] Chr16:72021113 [GRCh38]
Chr16:72055012 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.546G>T (p.Gly182=) single nucleotide variant Miller syndrome [RCV001116983] Chr16:72021152 [GRCh38]
Chr16:72055051 [GRCh37]
Chr16:16q22.2
uncertain significance
NC_000016.9:g.(?_72042664)_(72146396_?)dup duplication not provided [RCV001314623] Chr16:72042664..72146396 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.248_261del (p.Leu83fs) deletion Miller syndrome [RCV001780367]|not provided [RCV001388787] Chr16:72014483..72014496 [GRCh38]
Chr16:72048382..72048395 [GRCh37]
Chr16:16q22.2
pathogenic
Single allele single nucleotide variant not provided [RCV001655342] Chr16:72008529 [GRCh38]
Chr16:72042428 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.706-250del deletion not provided [RCV001667119] Chr16:72022094 [GRCh38]
Chr16:72055993 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.820-307A>G single nucleotide variant not provided [RCV001687061] Chr16:72022858 [GRCh38]
Chr16:72056757 [GRCh37]
Chr16:16q22.2
benign
NM_001361.5(DHODH):c.952G>T (p.Glu318Ter) single nucleotide variant Miller syndrome [RCV001733572] Chr16:72023297 [GRCh38]
Chr16:72057196 [GRCh37]
Chr16:16q22.2
likely pathogenic
NM_001361.5(DHODH):c.26G>A (p.Arg9Gln) single nucleotide variant not provided [RCV001896722] Chr16:72012054 [GRCh38]
Chr16:72045953 [GRCh37]
Chr16:16q22.2
uncertain significance
NC_000016.9:g.(?_69680960)_(72146396_?)dup duplication Immunodeficiency [RCV001950695] Chr16:69680960..72146396 [GRCh37]
Chr16:16q22.1-22.2
uncertain significance
NM_001361.5(DHODH):c.1166T>C (p.Ile389Thr) single nucleotide variant not provided [RCV001904301] Chr16:72024177 [GRCh38]
Chr16:72058076 [GRCh37]
Chr16:16q22.2
uncertain significance
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2
uncertain significance
NM_001361.5(DHODH):c.104G>A (p.Arg35His) single nucleotide variant not provided [RCV001879562] Chr16:72012132 [GRCh38]
Chr16:72046031 [GRCh37]
Chr16:16q22.2
uncertain significance
NM_001361.5(DHODH):c.973+12C>T single nucleotide variant not provided [RCV002128257] Chr16:72023330 [GRCh38]
Chr16:72057229 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.706-7G>A single nucleotide variant not provided [RCV002077405] Chr16:72022355 [GRCh38]
Chr16:72056254 [GRCh37]
Chr16:16q22.2
likely benign
NM_001361.5(DHODH):c.435-19G>A single nucleotide variant not provided [RCV002115834] Chr16:72017005 [GRCh38]
Chr16:72050904 [GRCh37]
Chr16:16q22.2
benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2867 AgrOrtholog
COSMIC DHODH COSMIC
Ensembl Genes ENSG00000102967 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000219240 ENTREZGENE
  ENSP00000219240.4 UniProtKB/Swiss-Prot
  ENSP00000460966.1 UniProtKB/TrEMBL
  ENSP00000461848.1 UniProtKB/TrEMBL
  ENSP00000464249.1 UniProtKB/TrEMBL
  ENSP00000464333.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000219240 ENTREZGENE
  ENST00000219240.9 UniProtKB/Swiss-Prot
  ENST00000571288.6 UniProtKB/TrEMBL
  ENST00000572887.5 UniProtKB/TrEMBL
  ENST00000574309.5 UniProtKB/TrEMBL
  ENST00000576145.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102967 GTEx
HGNC ID HGNC:2867 ENTREZGENE
Human Proteome Map DHODH Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dihydroorotate_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dihydroorotate_DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dihydroorotate_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1723 UniProtKB/Swiss-Prot
NCBI Gene 1723 ENTREZGENE
OMIM 126064 OMIM
  263750 OMIM
Pfam DHO_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB DHODH RGD, PharmGKB
PROSITE DHODEHASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DHODEHASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs pyrD_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt I3L449_HUMAN UniProtKB/TrEMBL
  I3NI32_HUMAN UniProtKB/TrEMBL
  J3QRJ4_HUMAN UniProtKB/TrEMBL
  J3QRQ3_HUMAN UniProtKB/TrEMBL
  PYRD_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6P176 ENTREZGENE
UniProt Secondary A8K8C8 UniProtKB/Swiss-Prot
  Q6P176 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-09-13 DHODH  dihydroorotate dehydrogenase (quinone)  DHODH  dihydroorotate dehydrogenase  Symbol and/or name change 5135510 APPROVED