DBH (dopamine beta-hydroxylase) - Rat Genome Database

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Gene: DBH (dopamine beta-hydroxylase) Homo sapiens
Analyze
Symbol: DBH
Name: dopamine beta-hydroxylase
RGD ID: 736659
HGNC Page HGNC
Description: Exhibits copper ion binding activity and dopamine beta-monooxygenase activity. Involved in dopamine catabolic process and norepinephrine biosynthetic process. Localizes to several cellular components, including centriolar satellite; endoplasmic reticulum; and secretory granule. Implicated in several diseases, including alcohol use disorder; attention deficit hyperactivity disorder; dopamine beta-hydroxylase deficiency; hypertension; and migraine with aura. Biomarker of Parkinson's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DBM; dopamine beta hydroxylase; dopamine beta-hydroxylase (dopamine beta-monooxygenase); ORTHYP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9133,636,363 - 133,659,329 (+)EnsemblGRCh38hg38GRCh38
GRCh389133,636,363 - 133,659,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379136,501,485 - 136,524,451 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369135,491,306 - 135,514,287 (+)NCBINCBI36hg18NCBI36
Build 349133,531,038 - 133,554,020NCBI
Celera9107,048,360 - 107,071,346 (+)NCBI
Cytogenetic Map9q34.2NCBI
HuRef9106,002,148 - 106,025,141 (+)NCBIHuRef
CHM1_19136,651,448 - 136,674,425 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-adrenaline  (ISO)
(R)-noradrenaline  (ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
2,4-D  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-chloro-7-iodoquinolin-8-ol  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP)
amitraz  (ISO)
ammonium chloride  (ISO)
arsenous acid  (ISO)
artesunate  (EXP)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bromocriptine  (EXP)
bupropion  (ISO)
C60 fullerene  (ISO)
chlorpyrifos  (ISO)
citalopram  (ISO)
cocaine  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
cyanazine  (ISO)
D-mannitol  (ISO)
desipramine  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
dieldrin  (ISO)
disulfiram  (EXP,ISO)
dobutamine  (ISO)
dopamine  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
Fusaric acid  (ISO)
hydrogen sulfide  (ISO)
lamotrigine  (EXP)
manganese(II) chloride  (EXP)
methamphetamine  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methyllycaconitine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
nicotine  (EXP)
nimodipine  (ISO)
paracetamol  (EXP)
Pargyline  (ISO)
paroxetine  (ISO)
procymidone  (ISO)
reboxetine  (ISO)
reserpine  (ISO)
rotenone  (EXP)
sarin  (EXP)
serotonin  (ISO)
sertraline  (ISO)
simazine  (ISO)
tamoxifen  (ISO)
taurine  (ISO)
testosterone  (ISO)
triazines  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References

References - curated
1. Buller KM, etal., Pediatr Res. 2008 Apr;63(4):364-9.
2. Chen Y, etal., Am J Hypertens. 2011 Jan;24(1):24-32. Epub 2010 Sep 2.
3. Coll M, etal., J Hepatol. 2008 Jul;49(1):43-51. Epub 2008 Apr 18.
4. Coll M, etal., Liver Int. 2010 Apr;30(4):593-602. Epub 2009 Nov 30.
5. Fernandez F, etal., J Neurol Sci. 2006 Dec 21;251(1-2):118-23. Epub 2006 Nov 7.
6. Freire MT, etal., J Neural Transm. 2005 Sep;112(9):1269-74.
7. GOA_HUMAN data from the GO Consortium
8. Healy DG, etal., Ann Neurol 2004 Mar;55(3):443-6.
9. Inouye KE, etal., Endocrinology. 2006 Apr;147(4):1860-70. Epub 2006 Jan 5.
10. Kitayama IT, etal., Ann N Y Acad Sci. 2008 Dec;1148:95-8.
11. Kohnke MD, etal., J Neural Transm. 2006 Jul;113(7):869-76. Epub 2005 Oct 27.
12. Kvetnansky R, etal., Physiol Rev. 2009 Apr;89(2):535-606.
13. Marques Pereira P, etal., J Neurochem. 2008 Dec;107(5):1325-34. Epub 2008 Sep 24.
14. Northrop LE, etal., J Neuroendocrinol. 2010 Oct;22(10):1061-71. doi: 10.1111/j.1365-2826.2010.02049.x.
15. OMIM Disease Annotation Pipeline
16. Pipeline to import KEGG annotations from KEGG into RGD
17. Pipeline to import SMPDB annotations from SMPDB into RGD
18. Potes CS, etal., Am J Physiol Regul Integr Comp Physiol. 2010 Aug;299(2):R623-31. Epub 2010 Jun 16.
19. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. RGD automated import pipeline for gene-chemical interactions
21. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Sato T, etal., J Mol Neurosci. 2011 Feb;43(2):193-9. Epub 2010 Jul 2.
23. Smith KM, etal., Am J Med Genet B Neuropsychiatr Genet 2003 May 15;119(1):77-85.
24. Swoap SJ, etal., Am J Physiol Regul Integr Comp Physiol. 2004 Jan;286(1):R108-13. Epub 2003 Sep 11.
25. Takahashi S Tohoku J Exp Med. 2008 Nov;216(3):239-48.
26. Tong M, etal., J Alzheimers Dis. 2009;16(3):585-99.
Additional References at PubMed
PMID:2880016   PMID:2922261   PMID:3180847   PMID:3443096   PMID:3972830   PMID:7759508   PMID:7918370   PMID:7961964   PMID:8546710   PMID:9139828   PMID:9688506   PMID:9763470  
PMID:10075201   PMID:10391209   PMID:10391210   PMID:10490716   PMID:10686491   PMID:10887204   PMID:11140838   PMID:11170900   PMID:11857564   PMID:11904129   PMID:11904130   PMID:11943777  
PMID:12360111   PMID:12477932   PMID:12488060   PMID:12555232   PMID:12624717   PMID:12660802   PMID:12730829   PMID:12778453   PMID:12833405   PMID:12960750   PMID:14718574   PMID:15028279  
PMID:15077009   PMID:15102340   PMID:15164053   PMID:15167700   PMID:15205702   PMID:15489334   PMID:15498570   PMID:15505174   PMID:15767706   PMID:15796803   PMID:16032443   PMID:16097364  
PMID:16152569   PMID:16272956   PMID:16335952   PMID:16389711   PMID:16616730   PMID:16616989   PMID:16741944   PMID:16831359   PMID:16876143   PMID:17131588   PMID:17157269   PMID:17171650  
PMID:17187001   PMID:17200925   PMID:17457369   PMID:17503472   PMID:17503507   PMID:17625104   PMID:17728669   PMID:17853400   PMID:18030083   PMID:18032384   PMID:18081028   PMID:18172755  
PMID:18173840   PMID:18207134   PMID:18270970   PMID:18275850   PMID:18330705   PMID:18338249   PMID:18404133   PMID:18486967   PMID:18722802   PMID:18821565   PMID:18821566   PMID:18973765  
PMID:18982239   PMID:19016604   PMID:19058789   PMID:19086053   PMID:19107190   PMID:19152006   PMID:19156168   PMID:19219470   PMID:19352218   PMID:19360691   PMID:19415821   PMID:19506906  
PMID:19560519   PMID:19604093   PMID:19673036   PMID:19757024   PMID:19772578   PMID:19851296   PMID:19874574   PMID:19913121   PMID:19944766   PMID:20006992   PMID:20009769   PMID:20035263  
PMID:20127808   PMID:20129829   PMID:20198315   PMID:20301647   PMID:20350135   PMID:20418890   PMID:20430042   PMID:20464528   PMID:20468064   PMID:20498626   PMID:20505554   PMID:20602615  
PMID:20621148   PMID:20628086   PMID:20691427   PMID:20732903   PMID:20734064   PMID:20931244   PMID:21070631   PMID:21126477   PMID:21209083   PMID:21471955   PMID:21509519   PMID:21538940  
PMID:21668745   PMID:21685187   PMID:21688126   PMID:21761554   PMID:21873635   PMID:22028891   PMID:22408582   PMID:22445279   PMID:22513716   PMID:22760354   PMID:22761865   PMID:22765285  
PMID:22841130   PMID:22871345   PMID:22875483   PMID:22895683   PMID:22906516   PMID:23054588   PMID:23261162   PMID:23384717   PMID:23416088   PMID:23458673   PMID:23464991   PMID:23510745  
PMID:23559427   PMID:23692268   PMID:23707643   PMID:23906995   PMID:23951054   PMID:23962674   PMID:23988761   PMID:24201835   PMID:24210742   PMID:24391727   PMID:24521142   PMID:24710129  
PMID:24809448   PMID:24888991   PMID:24986918   PMID:24990418   PMID:25326128   PMID:25336319   PMID:25450229   PMID:25865307   PMID:25921289   PMID:25975715   PMID:26217791   PMID:26356164  
PMID:26400296   PMID:26616837   PMID:26632697   PMID:26667034   PMID:26762739   PMID:26868704   PMID:26891013   PMID:26986136   PMID:27148966   PMID:27152332   PMID:27177268   PMID:27194378  
PMID:27236774   PMID:27239844   PMID:27447243   PMID:27776953   PMID:27778639   PMID:28139629   PMID:28319085   PMID:28647493   PMID:28707163   PMID:29498170   PMID:29525179   PMID:30187307  
PMID:30453293   PMID:30817802   PMID:30909233   PMID:31082450   PMID:31195057   PMID:31265749   PMID:31771069   PMID:31913053   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
DBH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9133,636,363 - 133,659,329 (+)EnsemblGRCh38hg38GRCh38
GRCh389133,636,363 - 133,659,329 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh379136,501,485 - 136,524,451 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369135,491,306 - 135,514,287 (+)NCBINCBI36hg18NCBI36
Build 349133,531,038 - 133,554,020NCBI
Celera9107,048,360 - 107,071,346 (+)NCBI
Cytogenetic Map9q34.2NCBI
HuRef9106,002,148 - 106,025,141 (+)NCBIHuRef
CHM1_19136,651,448 - 136,674,425 (+)NCBICHM1_1
Dbh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39227,055,519 - 27,073,216 (+)NCBIGRCm39mm39
GRCm39 Ensembl227,055,245 - 27,073,212 (+)Ensembl
GRCm38227,165,507 - 27,183,204 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl227,165,233 - 27,183,200 (+)EnsemblGRCm38mm10GRCm38
MGSCv37227,021,027 - 27,038,724 (+)NCBIGRCm37mm9NCBIm37
MGSCv36226,987,242 - 27,004,928 (+)NCBImm8
Celera226,868,411 - 26,886,118 (+)NCBICelera
Cytogenetic Map2A3NCBI
cM Map219.29NCBI
Dbh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2310,488,260 - 10,505,245 (+)NCBI
Rnor_6.0 Ensembl35,709,236 - 5,731,898 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.035,709,236 - 5,731,895 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0311,073,477 - 11,095,363 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.436,052,706 - 6,069,826 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.136,053,005 - 6,070,129 (+)NCBI
Celera35,285,082 - 5,302,054 (+)NCBICelera
Cytogenetic Map3p12NCBI
Dbh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555132,918,286 - 2,932,247 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555132,918,085 - 2,932,481 (+)NCBIChiLan1.0ChiLan1.0
DBH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19133,371,818 - 133,394,581 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9133,371,821 - 133,393,697 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v09104,761,504 - 104,784,445 (+)NCBIMhudiblu_PPA_v0panPan3
DBH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1950,004,806 - 50,024,130 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl950,004,806 - 50,024,130 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha949,285,838 - 49,305,131 (+)NCBI
ROS_Cfam_1.0950,879,184 - 50,898,677 (+)NCBI
UMICH_Zoey_3.1949,640,508 - 49,659,973 (+)NCBI
UNSW_CanFamBas_1.0949,982,444 - 50,001,971 (+)NCBI
UU_Cfam_GSD_1.0950,060,855 - 50,080,372 (+)NCBI
Dbh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947200,048,835 - 200,073,044 (+)NCBI
SpeTri2.0NW_0049366693,302,014 - 3,326,233 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DBH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1273,204,400 - 273,225,558 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11273,204,407 - 273,225,562 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21307,178,237 - 307,199,384 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap1q2.13NCBI
DBH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1124,474,041 - 4,498,942 (-)NCBI
ChlSab1.1 Ensembl124,474,958 - 4,498,910 (-)Ensembl
Vero_WHO_p1.0NW_023666058490,145 - 515,071 (+)NCBI
Dbh
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247602,016,066 - 2,030,240 (+)NCBI

Position Markers
DBH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379136,512,982 - 136,513,037UniSTSGRCh37
GRCh379136,521,670 - 136,522,220UniSTSGRCh37
GRCh379136,521,670 - 136,522,219UniSTSGRCh37
GRCh379136,508,537 - 136,508,703UniSTSGRCh37
Celera9107,068,557 - 107,069,107UniSTS
Celera9107,055,422 - 107,055,588UniSTS
Celera9107,068,557 - 107,069,106UniSTS
Celera9107,059,867 - 107,059,922UniSTS
HuRef9106,022,338 - 106,022,887UniSTS
HuRef9106,009,200 - 106,009,366UniSTS
HuRef9106,013,636 - 106,013,691UniSTS
HuRef9106,022,338 - 106,022,888UniSTS
Marshfield Genetic Map9142.51UniSTS
GDB:178536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379136,522,210 - 136,522,351UniSTSGRCh37
Build 369135,512,031 - 135,512,172RGDNCBI36
Celera9107,069,097 - 107,069,238RGD
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map9q34UniSTS
HuRef9106,022,878 - 106,023,019UniSTS
GDB:551079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379136,523,763 - 136,524,196UniSTSGRCh37
Build 369135,513,584 - 135,514,017RGDNCBI36
Celera9107,070,643 - 107,071,076RGD
Cytogenetic Map9q34UniSTS
HuRef9106,024,438 - 106,024,871UniSTS
GDB:554666  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379136,501,214 - 136,501,492UniSTSGRCh37
Build 369135,491,035 - 135,491,313RGDNCBI36
Celera9107,048,089 - 107,048,367RGD
Cytogenetic Map9q34UniSTS
HuRef9106,001,877 - 106,002,155UniSTS
GDB:554668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379136,524,159 - 136,524,348UniSTSGRCh37
Build 369135,513,980 - 135,514,169RGDNCBI36
Celera9107,071,039 - 107,071,228RGD
Cytogenetic Map9q34UniSTS
HuRef9106,024,834 - 106,025,023UniSTS
DBH_579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379136,523,774 - 136,524,647UniSTSGRCh37
Build 369135,513,595 - 135,514,468RGDNCBI36
Celera9107,070,654 - 107,071,527RGD
HuRef9106,024,449 - 106,025,322UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:869
Count of miRNA genes:598
Interacting mature miRNAs:680
Transcripts:ENST00000263611, ENST00000393056
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 5 1
Medium 2 374 274 13 274 14 1 44 8 13 25 13
Low 776 397 1179 161 509 150 1005 237 2191 210 903 1242 14 265 637 1
Below cutoff 1537 2352 148 175 923 28 3035 1796 1420 143 444 221 150 918 1938

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC000404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC001227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD014125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263611   ⟹   ENSP00000263611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9133,636,378 - 133,643,590 (+)Ensembl
RefSeq Acc Id: ENST00000393056   ⟹   ENSP00000376776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9133,636,363 - 133,659,329 (+)Ensembl
RefSeq Acc Id: NM_000787   ⟹   NP_000778
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389133,636,363 - 133,659,329 (+)NCBI
GRCh379136,501,485 - 136,524,466 (+)ENTREZGENE
Build 369135,491,306 - 135,514,287 (+)NCBI Archive
HuRef9106,002,148 - 106,025,141 (+)ENTREZGENE
CHM1_19136,651,448 - 136,674,425 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000778   ⟸   NM_000787
- Peptide Label: precursor
- UniProtKB: P09172 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000376776   ⟸   ENST00000393056
RefSeq Acc Id: ENSP00000263611   ⟸   ENST00000263611
Protein Domains
Cu2_monooxygen   DOMON

Promoters
RGD ID:7216563
Promoter ID:EPDNEW_H14026
Type:initiation region
Name:DBH_1
Description:dopamine beta-hydroxylase
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
GRCh389133,636,363 - 133,636,423EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000787.3(DBH):c.-979T= single nucleotide variant Dopamine beta-hydroxylase activity [RCV000001819] Chr9:133635393 [GRCh38]
Chr9:136500515 [GRCh37]
Chr9:9q34.2
pathogenic|association|benign
NM_000787.4(DBH):c.339+2T>C single nucleotide variant Orthostatic hypotension 1 [RCV000001820]|not provided [RCV000486465] Chr9:133636712 [GRCh38]
Chr9:136501834 [GRCh37]
Chr9:9q34.2
pathogenic
NM_000787.4(DBH):c.342C>A (p.Asp114Glu) single nucleotide variant Orthostatic hypotension 1 [RCV000001821] Chr9:133639848 [GRCh38]
Chr9:136504970 [GRCh37]
Chr9:9q34.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.2(chr9:133504071-133777922)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052259]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052259]|See cases [RCV000052259] Chr9:133504071..133777922 [GRCh38]
Chr9:136324358..136643044 [GRCh37]
Chr9:135314179..135632865 [NCBI36]
Chr9:9q34.2
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] Chr9:131406683..133852779 [GRCh38]
Chr9:134282070..136717901 [GRCh37]
Chr9:133271891..135707722 [NCBI36]
Chr9:9q34.13-34.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
NM_000787.4(DBH):c.1033G>A (p.Asp345Asn) single nucleotide variant Orthostatic hypotension 1 [RCV000201811] Chr9:133647854 [GRCh38]
Chr9:136512976 [GRCh37]
Chr9:9q34.2
pathogenic
NM_000787.4(DBH):c.486A>G (p.Glu162=) single nucleotide variant Orthostatic hypotension 1 [RCV000201821] Chr9:133639992 [GRCh38]
Chr9:136505114 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.617del (p.Glu206fs) deletion Orthostatic hypotension 1 [RCV000201827] Chr9:133642337 [GRCh38]
Chr9:136507459 [GRCh37]
Chr9:9q34.2
pathogenic
NM_000787.4(DBH):c.1085C>A (p.Ala362Glu) single nucleotide variant Orthostatic hypotension 1 [RCV000201828] Chr9:133647906 [GRCh38]
Chr9:136513028 [GRCh37]
Chr9:9q34.2
pathogenic
NM_000787.4(DBH):c.806G>T (p.Cys269Phe) single nucleotide variant Orthostatic hypotension 1 [RCV000201835] Chr9:133643474 [GRCh38]
Chr9:136508596 [GRCh37]
Chr9:9q34.2
pathogenic
NM_000787.3(DBH):c.-979T>C single nucleotide variant Orthostatic hypotension 1 [RCV000201837] Chr9:133635393 [GRCh38]
Chr9:136500515 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.1667A>G (p.Tyr556Cys) single nucleotide variant Orthostatic hypotension 1 [RCV000201842] Chr9:133657174 [GRCh38]
Chr9:136522296 [GRCh37]
Chr9:9q34.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 copy number gain See cases [RCV000137825] Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_000787.4(DBH):c.301G>A (p.Val101Met) single nucleotide variant Orthostatic hypotension 1 [RCV000201816] Chr9:133636672 [GRCh38]
Chr9:136501794 [GRCh37]
Chr9:9q34.2
pathogenic
NC_000009.11:g.136496870_136496871(11_15) microsatellite Orthostatic hypotension 1 [RCV000201799] Chr9:133631748..133631749 [GRCh38]
Chr9:136496870..136496871 [GRCh37]
Chr9:9q34.2
benign
MspI polymorphic site in intron 9 variation Orthostatic hypotension 1 [RCV000201801] Chr9:9q34.2 benign
19-bp insertion/deletion indel Orthostatic hypotension 1 [RCV000201831] Chr9:9q34.2 benign
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000787.4(DBH):c.*415C>T single nucleotide variant Orthostatic hypotension 1 [RCV000266918] Chr9:133658862 [GRCh38]
Chr9:136523984 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.105C>T (p.Ala35=) single nucleotide variant Orthostatic hypotension 1 [RCV000321607] Chr9:133636476 [GRCh38]
Chr9:136501598 [GRCh37]
Chr9:9q34.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000787.4(DBH):c.*390G>A single nucleotide variant Orthostatic hypotension 1 [RCV000303176] Chr9:133658837 [GRCh38]
Chr9:136523959 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.1335+13A>G single nucleotide variant Orthostatic hypotension 1 [RCV000345841] Chr9:133651790 [GRCh38]
Chr9:136516912 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.1557C>T (p.Ile519=) single nucleotide variant Orthostatic hypotension 1 [RCV000370913] Chr9:133656645 [GRCh38]
Chr9:136521767 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.807C>T (p.Cys269=) single nucleotide variant Orthostatic hypotension 1 [RCV000269423] Chr9:133643475 [GRCh38]
Chr9:136508597 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000787.4(DBH):c.1173G>A (p.Thr391=) single nucleotide variant Orthostatic hypotension 1 [RCV000286186] Chr9:133647994 [GRCh38]
Chr9:136513116 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1788C>T (p.Cys596=) single nucleotide variant Orthostatic hypotension 1 [RCV000324031] Chr9:133658381 [GRCh38]
Chr9:136523503 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.259T>C (p.Phe87Leu) single nucleotide variant Orthostatic hypotension 1 [RCV000325038] Chr9:133636630 [GRCh38]
Chr9:136501752 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.686C>A (p.Thr229Lys) single nucleotide variant Orthostatic hypotension 1 [RCV000305723] Chr9:133642406 [GRCh38]
Chr9:136507528 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*431C>T single nucleotide variant Orthostatic hypotension 1 [RCV000326664] Chr9:133658878 [GRCh38]
Chr9:136524000 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.849C>T (p.Cys283=) single nucleotide variant Orthostatic hypotension 1 [RCV000326872]|not provided [RCV000905672] Chr9:133643517 [GRCh38]
Chr9:136508639 [GRCh37]
Chr9:9q34.2
likely benign|uncertain significance
NM_000787.4(DBH):c.*213A>C single nucleotide variant Orthostatic hypotension 1 [RCV000349523] Chr9:133658660 [GRCh38]
Chr9:136523782 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1025-6T>A single nucleotide variant Orthostatic hypotension 1 [RCV000374973]|not provided [RCV000437872] Chr9:133647840 [GRCh38]
Chr9:136512962 [GRCh37]
Chr9:9q34.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000787.4(DBH):c.253G>A (p.Val85Ile) single nucleotide variant Orthostatic hypotension 1 [RCV000272253] Chr9:133636624 [GRCh38]
Chr9:136501746 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1835T>C (p.Ile612Thr) single nucleotide variant Orthostatic hypotension 1 [RCV000288757] Chr9:133658428 [GRCh38]
Chr9:136523550 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*845G>A single nucleotide variant Orthostatic hypotension 1 [RCV000328002] Chr9:133659292 [GRCh38]
Chr9:136524414 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.868G>A (p.Asp290Asn) single nucleotide variant Orthostatic hypotension 1 [RCV000273597] Chr9:133643536 [GRCh38]
Chr9:136508658 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.1572C>T (p.Asn524=) single nucleotide variant Orthostatic hypotension 1 [RCV000353567] Chr9:133657079 [GRCh38]
Chr9:136522201 [GRCh37]
Chr9:9q34.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000787.4(DBH):c.1722+4C>T single nucleotide variant Orthostatic hypotension 1 [RCV000378048] Chr9:133657233 [GRCh38]
Chr9:136522355 [GRCh37]
Chr9:9q34.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000787.4(DBH):c.1825G>A (p.Val609Ile) single nucleotide variant Orthostatic hypotension 1 [RCV000378583] Chr9:133658418 [GRCh38]
Chr9:136523540 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.747C>T (p.Tyr249=) single nucleotide variant Orthostatic hypotension 1 [RCV000309245] Chr9:133643415 [GRCh38]
Chr9:136508537 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.1410A>G (p.Thr470=) single nucleotide variant Orthostatic hypotension 1 [RCV000402576] Chr9:133652975 [GRCh38]
Chr9:136518097 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.1451T>C (p.Leu484Pro) single nucleotide variant Orthostatic hypotension 1 [RCV000310857] Chr9:133656539 [GRCh38]
Chr9:136521661 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.263G>C (p.Gly88Ala) single nucleotide variant Orthostatic hypotension 1 [RCV000381846] Chr9:133636634 [GRCh38]
Chr9:136501756 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000787.4(DBH):c.1516G>A (p.Ala506Thr) single nucleotide variant Orthostatic hypotension 1 [RCV000403409] Chr9:133656604 [GRCh38]
Chr9:136521726 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.631G>A (p.Ala211Thr) single nucleotide variant Orthostatic hypotension 1 [RCV000404226] Chr9:133642351 [GRCh38]
Chr9:136507473 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.744+8C>T single nucleotide variant Orthostatic hypotension 1 [RCV000404964] Chr9:133642472 [GRCh38]
Chr9:136507594 [GRCh37]
Chr9:9q34.2
benign|uncertain significance
NM_000787.4(DBH):c.1563-5A>G single nucleotide variant Orthostatic hypotension 1 [RCV000276266] Chr9:133657065 [GRCh38]
Chr9:136522187 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.1556T>C (p.Ile519Thr) single nucleotide variant Orthostatic hypotension 1 [RCV000311960] Chr9:133656644 [GRCh38]
Chr9:136521766 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.363G>A (p.Gly121=) single nucleotide variant Orthostatic hypotension 1 [RCV000333589] Chr9:133639869 [GRCh38]
Chr9:136504991 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*100C>T single nucleotide variant Orthostatic hypotension 1 [RCV000384217] Chr9:133658547 [GRCh38]
Chr9:136523669 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.1139G>A (p.Arg380Gln) single nucleotide variant Orthostatic hypotension 1 [RCV000406797] Chr9:133647960 [GRCh38]
Chr9:136513082 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.602A>G (p.Asn201Ser) single nucleotide variant Orthostatic hypotension 1 [RCV000335908] Chr9:133642322 [GRCh38]
Chr9:136507444 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.735C>T (p.His245=) single nucleotide variant Orthostatic hypotension 1 [RCV000358218] Chr9:133642455 [GRCh38]
Chr9:136507577 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.*222C>T single nucleotide variant Orthostatic hypotension 1 [RCV000408184] Chr9:133658669 [GRCh38]
Chr9:136523791 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.533G>A (p.Arg178Gln) single nucleotide variant Orthostatic hypotension 1 [RCV000278551] Chr9:133642253 [GRCh38]
Chr9:136507375 [GRCh37]
Chr9:9q34.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000787.4(DBH):c.486+13C>T single nucleotide variant Orthostatic hypotension 1 [RCV000337149] Chr9:133640005 [GRCh38]
Chr9:136505127 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.1599G>A (p.Ala533=) single nucleotide variant Orthostatic hypotension 1 [RCV000263473] Chr9:133657106 [GRCh38]
Chr9:136522228 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1024+6C>G single nucleotide variant Orthostatic hypotension 1 [RCV000279427] Chr9:133644326 [GRCh38]
Chr9:136509448 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.*318C>A single nucleotide variant Orthostatic hypotension 1 [RCV000297139] Chr9:133658765 [GRCh38]
Chr9:136523887 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*278T>C single nucleotide variant Orthostatic hypotension 1 [RCV000314850] Chr9:133658725 [GRCh38]
Chr9:136523847 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.1024+9C>T single nucleotide variant Orthostatic hypotension 1 [RCV000315668] Chr9:133644329 [GRCh38]
Chr9:136509451 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.952G>T (p.Ala318Ser) single nucleotide variant Orthostatic hypotension 1 [RCV000387809] Chr9:133644248 [GRCh38]
Chr9:136509370 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.1734C>T (p.Asn578=) single nucleotide variant Orthostatic hypotension 1 [RCV000264816] Chr9:133658327 [GRCh38]
Chr9:136523449 [GRCh37]
Chr9:9q34.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000787.4(DBH):c.1028G>A (p.Arg343Gln) single nucleotide variant Orthostatic hypotension 1 [RCV000280493] Chr9:133647849 [GRCh38]
Chr9:136512971 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1563-3C>T single nucleotide variant Orthostatic hypotension 1 [RCV000298734] Chr9:133657067 [GRCh38]
Chr9:136522189 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1094T>C (p.Met365Thr) single nucleotide variant Orthostatic hypotension 1 [RCV000340168] Chr9:133647915 [GRCh38]
Chr9:136513037 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000787.4(DBH):c.235C>T (p.Arg79Trp) single nucleotide variant Orthostatic hypotension 1 [RCV000364592] Chr9:133636606 [GRCh38]
Chr9:136501728 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.1645C>T (p.Arg549Cys) single nucleotide variant Orthostatic hypotension 1 [RCV000318690] Chr9:133657152 [GRCh38]
Chr9:136522274 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.1493C>T (p.Thr498Met) single nucleotide variant Orthostatic hypotension 1 [RCV000365476] Chr9:133656581 [GRCh38]
Chr9:136521703 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.776C>T (p.Ala259Val) single nucleotide variant Orthostatic hypotension 1 [RCV000366382] Chr9:133643444 [GRCh38]
Chr9:136508566 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1840G>A (p.Gly614Arg) single nucleotide variant Orthostatic hypotension 1 [RCV000343761] Chr9:133658433 [GRCh38]
Chr9:136523555 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.486+15C>T single nucleotide variant Orthostatic hypotension 1 [RCV000393532] Chr9:133640007 [GRCh38]
Chr9:136505129 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*565_*566del deletion Orthostatic hypotension 1 [RCV000272865] Chr9:133659011..133659012 [GRCh38]
Chr9:136524133..136524134 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*389_*390insACCCCC insertion Orthostatic hypotension 1 [RCV000262108] Chr9:133658835..133658836 [GRCh38]
Chr9:136523957..136523958 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1804C>T (p.Arg602Ter) single nucleotide variant not provided [RCV000522774] Chr9:133658397 [GRCh38]
Chr9:136523519 [GRCh37]
Chr9:9q34.2
pathogenic|uncertain significance
NM_000787.4(DBH):c.*459A>G single nucleotide variant Orthostatic hypotension 1 [RCV000381380] Chr9:133658906 [GRCh38]
Chr9:136524028 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.921+8C>T single nucleotide variant Orthostatic hypotension 1 [RCV000333318] Chr9:133643597 [GRCh38]
Chr9:136508719 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.407T>C (p.Val136Ala) single nucleotide variant Orthostatic hypotension 1 [RCV000385719] Chr9:133639913 [GRCh38]
Chr9:136505035 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*283A>C single nucleotide variant Orthostatic hypotension 1 [RCV000351033] Chr9:133658730 [GRCh38]
Chr9:136523852 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*846G>A single nucleotide variant Orthostatic hypotension 1 [RCV000387211] Chr9:133659293 [GRCh38]
Chr9:136524415 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.852C>T (p.Asp284=) single nucleotide variant Orthostatic hypotension 1 [RCV000369952] Chr9:133643520 [GRCh38]
Chr9:136508642 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*315G>A single nucleotide variant Orthostatic hypotension 1 [RCV000390544] Chr9:133658762 [GRCh38]
Chr9:136523884 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*383C>T single nucleotide variant Orthostatic hypotension 1 [RCV000356913] Chr9:133658830 [GRCh38]
Chr9:136523952 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*401C>T single nucleotide variant Orthostatic hypotension 1 [RCV000357998] Chr9:133658848 [GRCh38]
Chr9:136523970 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*116G>A single nucleotide variant Orthostatic hypotension 1 [RCV000289786] Chr9:133658563 [GRCh38]
Chr9:136523685 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*268A>G single nucleotide variant Orthostatic hypotension 1 [RCV001169588] Chr9:133658715 [GRCh38]
Chr9:136523837 [GRCh37]
Chr9:9q34.2
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
NM_000787.4(DBH):c.1198C>T (p.Pro400Ser) single nucleotide variant Orthostatic hypotension 1 [RCV001167072]|not provided [RCV000515036] Chr9:133651640 [GRCh38]
Chr9:136516762 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1434G>A (p.Val478=) single nucleotide variant Orthostatic hypotension 1 [RCV000635251] Chr9:133652999 [GRCh38]
Chr9:136518121 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.490G>A (p.Gly164Ser) single nucleotide variant Orthostatic hypotension 1 [RCV000635252] Chr9:133642210 [GRCh38]
Chr9:136507332 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1444G>A (p.Gly482Arg) single nucleotide variant Orthostatic hypotension 1 [RCV000635253] Chr9:133656532 [GRCh38]
Chr9:136521654 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity
NM_000787.4(DBH):c.850G>A (p.Asp284Asn) single nucleotide variant Orthostatic hypotension 1 [RCV001169494]|not provided [RCV000635254] Chr9:133643518 [GRCh38]
Chr9:136508640 [GRCh37]
Chr9:9q34.2
benign|likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3
drug response
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000787.4(DBH):c.146A>G (p.Tyr49Cys) single nucleotide variant Orthostatic hypotension 1 [RCV000685606] Chr9:133636517 [GRCh38]
Chr9:136501639 [GRCh37]
Chr9:9q34.2
uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3
pathogenic
NM_000787.4(DBH):c.380C>T (p.Pro127Leu) single nucleotide variant Orthostatic hypotension 1 [RCV000696980] Chr9:133639886 [GRCh38]
Chr9:136505008 [GRCh37]
Chr9:9q34.2
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q34.2(chr9:136500203-136505114)x1 copy number loss not provided [RCV000748745] Chr9:136500203..136505114 [GRCh37]
Chr9:9q34.2
benign
GRCh37/hg19 9q34.2(chr9:136515297-136545423)x1 copy number loss not provided [RCV000748746] Chr9:136515297..136545423 [GRCh37]
Chr9:9q34.2
benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.11:g.(?_135771850)_(137038881_?)dup duplication Tuberous sclerosis 1 [RCV001033564] Chr9:135771850..137038881 [GRCh37]
Chr9:9q34.13-34.2
uncertain significance
NM_000787.4(DBH):c.1722+13G>T single nucleotide variant Orthostatic hypotension 1 [RCV001165540] Chr9:133657242 [GRCh38]
Chr9:136522364 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*393C>T single nucleotide variant Orthostatic hypotension 1 [RCV001165611] Chr9:133658840 [GRCh38]
Chr9:136523962 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1813G>A (p.Ala605Thr) single nucleotide variant Orthostatic hypotension 1 [RCV001167133] Chr9:133658406 [GRCh38]
Chr9:136523528 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.291C>T (p.Asn97=) single nucleotide variant Orthostatic hypotension 1 [RCV000927390] Chr9:133636662 [GRCh38]
Chr9:136501784 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity
NM_000787.4(DBH):c.552C>T (p.Asn184=) single nucleotide variant Orthostatic hypotension 1 [RCV000882356] Chr9:133642272 [GRCh38]
Chr9:136507394 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.1656G>A (p.Leu552=) single nucleotide variant not provided [RCV000927974] Chr9:133657163 [GRCh38]
Chr9:136522285 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.624C>T (p.Pro208=) single nucleotide variant Orthostatic hypotension 1 [RCV001167014]|not provided [RCV000882451] Chr9:133642344 [GRCh38]
Chr9:136507466 [GRCh37]
Chr9:9q34.2
likely benign|uncertain significance
NM_000787.4(DBH):c.1824C>T (p.Thr608=) single nucleotide variant not provided [RCV000973825] Chr9:133658417 [GRCh38]
Chr9:136523539 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.1215C>T (p.His405=) single nucleotide variant Orthostatic hypotension 1 [RCV000966395] Chr9:133651657 [GRCh38]
Chr9:136516779 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity
NM_000787.4(DBH):c.1562+8C>G single nucleotide variant not provided [RCV000922043] Chr9:133656658 [GRCh38]
Chr9:136521780 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.901G>A (p.Ala301Thr) single nucleotide variant not provided [RCV000925021] Chr9:133643569 [GRCh38]
Chr9:136508691 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.945C>T (p.Ala315=) single nucleotide variant not provided [RCV000926104] Chr9:133644241 [GRCh38]
Chr9:136509363 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.1401G>A (p.Thr467=) single nucleotide variant not provided [RCV000899826] Chr9:133652966 [GRCh38]
Chr9:136518088 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.322G>T (p.Asp108Tyr) single nucleotide variant not provided [RCV000880898] Chr9:133636693 [GRCh38]
Chr9:136501815 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.632C>T (p.Ala211Val) single nucleotide variant Orthostatic hypotension 1 [RCV001038766] Chr9:133642352 [GRCh38]
Chr9:136507474 [GRCh37]
Chr9:9q34.2
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000787.4(DBH):c.1563-6dup duplication not provided [RCV000906694] Chr9:133657060..133657061 [GRCh38]
Chr9:136522182..136522183 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.315C>T (p.Thr105=) single nucleotide variant not provided [RCV000974737] Chr9:133636686 [GRCh38]
Chr9:136501808 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.1539G>A (p.Gln513=) single nucleotide variant Orthostatic hypotension 1 [RCV000974738] Chr9:133656627 [GRCh38]
Chr9:136521749 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.1206C>T (p.Ser402=) single nucleotide variant Orthostatic hypotension 1 [RCV000968439] Chr9:133651648 [GRCh38]
Chr9:136516770 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.1038C>T (p.Ser346=) single nucleotide variant Orthostatic hypotension 1 [RCV000938064] Chr9:133647859 [GRCh38]
Chr9:136512981 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.1735C>T (p.Leu579=) single nucleotide variant Orthostatic hypotension 1 [RCV000887862] Chr9:133658328 [GRCh38]
Chr9:136523450 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.1221C>T (p.Phe407=) single nucleotide variant Orthostatic hypotension 1 [RCV001167648]|not provided [RCV000924457] Chr9:133651663 [GRCh38]
Chr9:136516785 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_000787.4(DBH):c.1146C>T (p.Thr382=) single nucleotide variant Orthostatic hypotension 1 [RCV000902160] Chr9:133647967 [GRCh38]
Chr9:136513089 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.1343G>A (p.Arg448His) single nucleotide variant Orthostatic hypotension 1 [RCV000809838] Chr9:133652253 [GRCh38]
Chr9:136517375 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.583G>A (p.Val195Met) single nucleotide variant Orthostatic hypotension 1 [RCV000801479] Chr9:133642303 [GRCh38]
Chr9:136507425 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1546T>C (p.Phe516Leu) single nucleotide variant Orthostatic hypotension 1 [RCV000792359] Chr9:133656634 [GRCh38]
Chr9:136521756 [GRCh37]
Chr9:9q34.2
uncertain significance
NC_000009.11:g.(?_134379574)_(138678377_?)dup duplication Ehlers-Danlos syndrome, classic type [RCV000807925] Chr9:134379574..138678377 [GRCh37]
Chr9:9q34.13-34.3
uncertain significance
NM_000787.4(DBH):c.1066A>G (p.Lys356Glu) single nucleotide variant Orthostatic hypotension 1 [RCV000794232] Chr9:133647887 [GRCh38]
Chr9:136513009 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1643A>G (p.Asn548Ser) single nucleotide variant Orthostatic hypotension 1 [RCV001165538] Chr9:133657150 [GRCh38]
Chr9:136522272 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.128G>A (p.Arg43His) single nucleotide variant Orthostatic hypotension 1 [RCV001169428] Chr9:133636499 [GRCh38]
Chr9:136501621 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.153C>G (p.Ile51Met) single nucleotide variant Orthostatic hypotension 1 [RCV001169429] Chr9:133636524 [GRCh38]
Chr9:136501646 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*840C>T single nucleotide variant Orthostatic hypotension 1 [RCV001167781] Chr9:133659287 [GRCh38]
Chr9:136524409 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.*320G>A single nucleotide variant Orthostatic hypotension 1 [RCV001165610] Chr9:133658767 [GRCh38]
Chr9:136523889 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.717G>C (p.Lys239Asn) single nucleotide variant Orthostatic hypotension 1 [RCV001168725] Chr9:133642437 [GRCh38]
Chr9:136507559 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.450C>T (p.Pro150=) single nucleotide variant Orthostatic hypotension 1 [RCV001166488] Chr9:133639956 [GRCh38]
Chr9:136505078 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*58G>A single nucleotide variant Orthostatic hypotension 1 [RCV001167712] Chr9:133658505 [GRCh38]
Chr9:136523627 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.*837T>G single nucleotide variant Orthostatic hypotension 1 [RCV001167780] Chr9:133659284 [GRCh38]
Chr9:136524406 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.61A>G (p.Met21Val) single nucleotide variant Orthostatic hypotension 1 [RCV001168666] Chr9:133636432 [GRCh38]
Chr9:136501554 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1148C>T (p.Ala383Val) single nucleotide variant Orthostatic hypotension 1 [RCV001167070] Chr9:133647969 [GRCh38]
Chr9:136513091 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1155C>T (p.Ile385=) single nucleotide variant Orthostatic hypotension 1 [RCV001167071] Chr9:133647976 [GRCh38]
Chr9:136513098 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.165G>A (p.Pro55=) single nucleotide variant Orthostatic hypotension 1 [RCV001169430]|not provided [RCV000891884] Chr9:133636536 [GRCh38]
Chr9:136501658 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000787.4(DBH):c.76G>A (p.Val26Met) single nucleotide variant Orthostatic hypotension 1 [RCV000960610] Chr9:133636447 [GRCh38]
Chr9:136501569 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.932A>G (p.Tyr311Cys) single nucleotide variant Orthostatic hypotension 1 [RCV001169496] Chr9:133644228 [GRCh38]
Chr9:136509350 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*649C>T single nucleotide variant Orthostatic hypotension 1 [RCV001167203] Chr9:133659096 [GRCh38]
Chr9:136524218 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.16C>A (p.Arg6Ser) single nucleotide variant Orthostatic hypotension 1 [RCV001168665] Chr9:133636387 [GRCh38]
Chr9:136501509 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*253C>G single nucleotide variant Orthostatic hypotension 1 [RCV001169587] Chr9:133658700 [GRCh38]
Chr9:136523822 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.983T>G (p.Leu328Arg) single nucleotide variant Orthostatic hypotension 1 [RCV001165473] Chr9:133644279 [GRCh38]
Chr9:136509401 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1001A>T (p.Tyr334Phe) single nucleotide variant Orthostatic hypotension 1 [RCV001165474] Chr9:133644297 [GRCh38]
Chr9:136509419 [GRCh37]
Chr9:9q34.2
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_000787.4(DBH):c.653C>T (p.Ala218Val) single nucleotide variant Orthostatic hypotension 1 [RCV001233309] Chr9:133642373 [GRCh38]
Chr9:136507495 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.958G>A (p.Gly320Arg) single nucleotide variant Orthostatic hypotension 1 [RCV001043043] Chr9:133644254 [GRCh38]
Chr9:136509376 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.557C>T (p.Ser186Leu) single nucleotide variant Orthostatic hypotension 1 [RCV001221668] Chr9:133642277 [GRCh38]
Chr9:136507399 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*493C>T single nucleotide variant Orthostatic hypotension 1 [RCV001167202] Chr9:133658940 [GRCh38]
Chr9:136524062 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1300G>A (p.Val434Met) single nucleotide variant Orthostatic hypotension 1 [RCV001167650] Chr9:133651742 [GRCh38]
Chr9:136516864 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*73C>T single nucleotide variant Orthostatic hypotension 1 [RCV001167713] Chr9:133658520 [GRCh38]
Chr9:136523642 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1688T>C (p.Met563Thr) single nucleotide variant Orthostatic hypotension 1 [RCV001165539] Chr9:133657195 [GRCh38]
Chr9:136522317 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*394C>T single nucleotide variant Orthostatic hypotension 1 [RCV001165612] Chr9:133658841 [GRCh38]
Chr9:136523963 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.*398C>T single nucleotide variant Orthostatic hypotension 1 [RCV001165613] Chr9:133658845 [GRCh38]
Chr9:136523967 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.892G>A (p.Val298Met) single nucleotide variant Orthostatic hypotension 1 [RCV001169495] Chr9:133643560 [GRCh38]
Chr9:136508682 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1299C>T (p.Ile433=) single nucleotide variant not provided [RCV000973974] Chr9:133651741 [GRCh38]
Chr9:136516863 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.985C>T (p.Arg329Cys) single nucleotide variant not provided [RCV000953613] Chr9:133644281 [GRCh38]
Chr9:136509403 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.88C>T (p.Leu30=) single nucleotide variant not provided [RCV000900435] Chr9:133636459 [GRCh38]
Chr9:136501581 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.933C>T (p.Tyr311=) single nucleotide variant Orthostatic hypotension 1 [RCV000974756] Chr9:133644229 [GRCh38]
Chr9:136509351 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.381C>T (p.Pro127=) single nucleotide variant Orthostatic hypotension 1 [RCV001411724]|not provided [RCV000883887] Chr9:133639887 [GRCh38]
Chr9:136505009 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.1085C>T (p.Ala362Val) single nucleotide variant Orthostatic hypotension 1 [RCV000950180] Chr9:133647906 [GRCh38]
Chr9:136513028 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.1723-5dup duplication not provided [RCV000888285] Chr9:133658309..133658310 [GRCh38]
Chr9:136523431..136523432 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.354C>T (p.Asp118=) single nucleotide variant Orthostatic hypotension 1 [RCV000886979] Chr9:133639860 [GRCh38]
Chr9:136504982 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity
NM_000787.4(DBH):c.1772A>T (p.Glu591Val) single nucleotide variant Orthostatic hypotension 1 [RCV001065337] Chr9:133658365 [GRCh38]
Chr9:136523487 [GRCh37]
Chr9:9q34.2
conflicting interpretations of pathogenicity|uncertain significance
NC_000009.11:g.(?_135771602)_(136769889_?)dup duplication Tuberous sclerosis 1 [RCV001033460] Chr9:135771602..136769889 [GRCh37]
Chr9:9q34.13-34.2
uncertain significance
NM_000787.4(DBH):c.1128C>A (p.Ala376=) single nucleotide variant Orthostatic hypotension 1 [RCV001167069] Chr9:133647949 [GRCh38]
Chr9:136513071 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1819C>T (p.Pro607Ser) single nucleotide variant Orthostatic hypotension 1 [RCV000889319] Chr9:133658412 [GRCh38]
Chr9:136523534 [GRCh37]
Chr9:9q34.2
benign
NM_000787.4(DBH):c.1266A>G (p.Thr422=) single nucleotide variant Orthostatic hypotension 1 [RCV000958138] Chr9:133651708 [GRCh38]
Chr9:136516830 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.1791C>T (p.Pro597=) single nucleotide variant not provided [RCV000935627] Chr9:133658384 [GRCh38]
Chr9:136523506 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.*180A>G single nucleotide variant Orthostatic hypotension 1 [RCV001167715] Chr9:133658627 [GRCh38]
Chr9:136523749 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*844C>T single nucleotide variant Orthostatic hypotension 1 [RCV001167782] Chr9:133659291 [GRCh38]
Chr9:136524413 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.946G>A (p.Gly316Ser) single nucleotide variant Orthostatic hypotension 1 [RCV001035885] Chr9:133644242 [GRCh38]
Chr9:136509364 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*319C>T single nucleotide variant Orthostatic hypotension 1 [RCV001169589] Chr9:133658766 [GRCh38]
Chr9:136523888 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*425C>T single nucleotide variant Orthostatic hypotension 1 [RCV001167200] Chr9:133658872 [GRCh38]
Chr9:136523994 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*482C>T single nucleotide variant Orthostatic hypotension 1 [RCV001167201] Chr9:133658929 [GRCh38]
Chr9:136524051 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*698C>T single nucleotide variant Orthostatic hypotension 1 [RCV001167204] Chr9:133659145 [GRCh38]
Chr9:136524267 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1434+9C>T single nucleotide variant Orthostatic hypotension 1 [RCV001167652] Chr9:133653008 [GRCh38]
Chr9:136518130 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*89A>G single nucleotide variant Orthostatic hypotension 1 [RCV001167714] Chr9:133658536 [GRCh38]
Chr9:136523658 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.1365G>A (p.Ser455=) single nucleotide variant Orthostatic hypotension 1 [RCV001167651] Chr9:133652275 [GRCh38]
Chr9:136517397 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.17G>A (p.Arg6His) single nucleotide variant Orthostatic hypotension 1 [RCV001220018] Chr9:133636388 [GRCh38]
Chr9:136501510 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.736A>G (p.Ile246Val) single nucleotide variant Orthostatic hypotension 1 [RCV001168726] Chr9:133642456 [GRCh38]
Chr9:136507578 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.468dup (p.Lys157fs) duplication Orthostatic hypotension 1 [RCV001050113] Chr9:133639970..133639971 [GRCh38]
Chr9:136505092..136505093 [GRCh37]
Chr9:9q34.2
pathogenic
NM_000787.4(DBH):c.1286G>A (p.Arg429Gln) single nucleotide variant Orthostatic hypotension 1 [RCV001167649] Chr9:133651728 [GRCh38]
Chr9:136516850 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*52G>A single nucleotide variant Orthostatic hypotension 1 [RCV001167711] Chr9:133658499 [GRCh38]
Chr9:136523621 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.*414C>G single nucleotide variant Orthostatic hypotension 1 [RCV001165614] Chr9:133658861 [GRCh38]
Chr9:136523983 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.949C>T (p.Leu317Phe) single nucleotide variant Orthostatic hypotension 1 [RCV001038760] Chr9:133644245 [GRCh38]
Chr9:136509367 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1133C>T (p.Pro378Leu) single nucleotide variant Orthostatic hypotension 1 [RCV001349908] Chr9:133647954 [GRCh38]
Chr9:136513076 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.715A>T (p.Lys239Ter) single nucleotide variant Orthostatic hypotension 1 [RCV001329406] Chr9:133642435 [GRCh38]
Chr9:136507557 [GRCh37]
Chr9:9q34.2
pathogenic
NM_000787.4(DBH):c.1282G>A (p.Gly428Ser) single nucleotide variant Orthostatic hypotension 1 [RCV001296873] Chr9:133651724 [GRCh38]
Chr9:136516846 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1172C>A (p.Thr391Lys) single nucleotide variant Orthostatic hypotension 1 [RCV001324103] Chr9:133647993 [GRCh38]
Chr9:136513115 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1528G>A (p.Gly510Ser) single nucleotide variant Orthostatic hypotension 1 [RCV001295987] Chr9:133656616 [GRCh38]
Chr9:136521738 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.275G>A (p.Arg92His) single nucleotide variant Orthostatic hypotension 1 [RCV001309967] Chr9:133636646 [GRCh38]
Chr9:136501768 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1486C>T (p.Pro496Ser) single nucleotide variant Sensorineural hearing loss [RCV001353209] Chr9:133656574 [GRCh38]
Chr9:136521696 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.788A>G (p.His263Arg) single nucleotide variant Orthostatic hypotension 1 [RCV001370432] Chr9:133643456 [GRCh38]
Chr9:136508578 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_000787.4(DBH):c.1192-10G>A single nucleotide variant Orthostatic hypotension 1 [RCV001403866] Chr9:133651624 [GRCh38]
Chr9:136516746 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.789C>T (p.His263=) single nucleotide variant Orthostatic hypotension 1 [RCV001398265] Chr9:133643457 [GRCh38]
Chr9:136508579 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.1116G>A (p.Thr372=) single nucleotide variant Orthostatic hypotension 1 [RCV001444875] Chr9:133647937 [GRCh38]
Chr9:136513059 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.209A>G (p.Glu70Gly) single nucleotide variant Orthostatic hypotension 1 [RCV001393584] Chr9:133636580 [GRCh38]
Chr9:136501702 [GRCh37]
Chr9:9q34.2
likely benign
NM_000787.4(DBH):c.1541A>G (p.Lys514Arg) single nucleotide variant Orthostatic hypotension 1 [RCV001443089] Chr9:133656629 [GRCh38]
Chr9:136521751 [GRCh37]
Chr9:9q34.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2689 AgrOrtholog
COSMIC DBH COSMIC
Ensembl Genes ENSG00000123454 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263611 UniProtKB/TrEMBL
  ENSP00000376776 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263611 UniProtKB/TrEMBL
  ENST00000393056 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.230 UniProtKB/Swiss-Prot
  2.60.120.310 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000123454 GTEx
HGNC ID HGNC:2689 ENTREZGENE
Human Proteome Map DBH Human Proteome Map
InterPro Cu2_ascorb_mOase-like_C UniProtKB/Swiss-Prot
  Cu2_ascorb_mOase_CS-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu2_ascorb_mOase_CS-2 UniProtKB/Swiss-Prot
  Cu2_ascorb_mOase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu2_ascorb_mOase_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cu2_monoox_C UniProtKB/Swiss-Prot
  DBH-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DOMON_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHM/PNGase_F_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tbh/DBH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1621 UniProtKB/Swiss-Prot
NCBI Gene 1621 ENTREZGENE
OMIM 223360 OMIM
  609312 OMIM
PANTHER PTHR10157 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cu2_monoox_C UniProtKB/Swiss-Prot
  Cu2_monooxygen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DOMON UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA136 PharmGKB
PRINTS DBMONOXGNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CU2_MONOOXYGENASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CU2_MONOOXYGENASE_2 UniProtKB/Swiss-Prot
  DOMON UniProtKB/Swiss-Prot
SMART DoH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49742 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt DOPO_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T382_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5T381 UniProtKB/Swiss-Prot
  Q96AG2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 DBH  dopamine beta-hydroxylase    dopamine beta-hydroxylase (dopamine beta-monooxygenase)  Symbol and/or name change 5135510 APPROVED
2011-08-16 DBH  dopamine beta-hydroxylase (dopamine beta-monooxygenase)  DBH  dopamine beta-hydroxylase (dopamine beta-monooxygenase)  Symbol and/or name change 5135510 APPROVED