DPYD (dihydropyrimidine dehydrogenase) - Rat Genome Database

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Gene: DPYD (dihydropyrimidine dehydrogenase) Homo sapiens
Analyze
Symbol: DPYD
Name: dihydropyrimidine dehydrogenase
RGD ID: 731730
HGNC Page HGNC
Description: Enables dihydropyrimidine dehydrogenase (NADP+) activity and protein homodimerization activity. Involved in nucleobase catabolic process and thymidine catabolic process. Located in cytosol. Implicated in acute lymphoblastic leukemia; dihydropyrimidine dehydrogenase deficiency; and pancreatic cancer. Biomarker of gallbladder cancer and pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DHP; DHPDHASE; dihydropyrimidine dehydrogenase [NADP(+)]; dihydropyrimidine dehydrogenase [NADP+]; dihydrothymine dehydrogenase; dihydrouracil dehydrogenase; DPD; DYPD; MGC132008; MGC70799
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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 Ensembl197,077,743 - 97,995,000 (-)EnsemblGRCh38hg38GRCh38
GRCh38197,077,743 - 97,921,059 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37197,543,299 - 98,386,615 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,315,887 - 98,159,203 (-)NCBINCBI36hg18NCBI36
Build 34197,255,322 - 98,098,600NCBI
Celera195,797,301 - 96,640,303 (-)NCBI
Cytogenetic Map1p21.3NCBI
HuRef195,664,181 - 96,508,076 (-)NCBIHuRef
CHM1_1197,659,318 - 98,502,216 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-benzylpiperazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-nitrofluorene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4'-epidoxorubicin  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
5-fluorouracil  (EXP,ISO)
5-formyltetrahydrofolic acid  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
butanal  (EXP)
camptothecin  (EXP)
capecitabine  (EXP)
carbon nanotube  (ISO)
carboplatin  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
cyclosporin A  (EXP,ISO)
DDE  (ISO)
DDT  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxifluridine  (EXP)
elemental selenium  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gemcitabine  (EXP)
Gimeracil  (EXP)
glafenine  (ISO)
glycidol  (ISO)
Heliotrine  (EXP)
ionomycin  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
kojic acid  (ISO)
L-ethionine  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
menadione  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylseleninic acid  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nimesulide  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
omeprazole  (ISO)
oxaliplatin  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
propanal  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sirolimus  (EXP)
sodium dichromate  (EXP,ISO)
Soman  (ISO)
succimer  (EXP)
sulforaphane  (EXP)
Tegafur  (EXP)
temozolomide  (EXP)
Temsirolimus  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tunicamycin  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)
wogonin  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe cutaneous syndactyly  (IAGP)
2-3 toe syndactyly  (IAGP)
Abnormal aggressive, impulsive or violent behavior  (IAGP)
Abnormal eating behavior  (IAGP)
Abnormal neutrophil count  (IAGP)
Abnormal social behavior  (IAGP)
Abnormality of vision  (IAGP)
Absent speech  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aggressive behavior  (IAGP)
Anteverted nares  (IAGP)
Areflexia  (IAGP)
Astigmatism  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Broad nasal tip  (IAGP)
Bulbous nose  (IAGP)
Cerebral atrophy  (IAGP)
Clinodactyly of the 5th toe  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Coloboma  (IAGP)
Deep palmar crease  (IAGP)
Deep philtrum  (IAGP)
Deeply set eye  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Diminished mental health  (IAGP)
Downslanted palpebral fissures  (IAGP)
Epiphyseal dysplasia  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Focal motor seizure  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hallux valgus  (IAGP)
High palate  (IAGP)
Hyperactivity  (IAGP)
Hyperintensity of cerebral white matter on MRI  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertonia  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, profound  (IAGP)
Irritability  (IAGP)
Joint hypermobility  (IAGP)
Large earlobe  (IAGP)
Lethargy  (IAGP)
Long ear  (IAGP)
Long eyelashes  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Macular hypoplasia  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Microphthalmia  (IAGP)
Motor delay  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Palpebral thickening  (IAGP)
Poor suck  (IAGP)
Profound global developmental delay  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal tip  (IAGP)
Prostate cancer  (IAGP)
Reduced dihydropyrimidine dehydrogenase level  (IAGP)
Respiratory failure requiring assisted ventilation  (IAGP)
Retrognathia  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Self-mutilation  (IAGP)
Severe expressive language delay  (IAGP)
Severe global developmental delay  (IAGP)
Short nail  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short toe  (IAGP)
Shortening of all phalanges of fingers  (IAGP)
Shyness  (IAGP)
Slit-like opening of the exterior auditory meatus  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Tetraplegia  (IAGP)
Thick lower lip vermilion  (IAGP)
Upslanted palpebral fissure  (IAGP)
Uraciluria  (IAGP)
Wide mouth  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
1. Ajiki T, etal., Anticancer Res. 2006 Mar-Apr;26(2B):1391-6.
2. Cui Y, etal., Cancer Chemother Pharmacol. 2013 Jan;71(1):145-52. doi: 10.1007/s00280-012-1991-y. Epub 2012 Oct 12.
3. GOA_HUMAN data from the GO Consortium
4. KEGG
5. Kleibl Z, etal., Neoplasma. 2009;56(4):303-16.
6. Kobuchi S, etal., Eur J Drug Metab Pharmacokinet. 2013 Sep;38(3):171-81. doi: 10.1007/s13318-012-0114-9. Epub 2012 Nov 30.
7. Kuramochi H, etal., Cancer Chemother Pharmacol. 2008 Dec;63(1):85-9. Epub 2008 Feb 29.
8. Nakahara O, etal., Int J Clin Oncol. 2010 Feb;15(1):39-45.
9. Ogata Y, etal., Gan To Kagaku Ryoho. 2001 May;28(5):655-60.
10. OMIM Disease Annotation Pipeline
11. Pipeline to import KEGG annotations from KEGG into RGD
12. Pipeline to import SMPDB annotations from SMPDB into RGD
13. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. RGD automated import pipeline for gene-chemical interactions
15. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Tamaki N, etal., Br J Nutr. 1995 May;73(5):711-22.
17. Tateishi T, etal., Drug Metab Dispos. 1999 Jun;27(6):651-4.
18. Tatsumi K, etal., J Biochem. 1993 Dec;114(6):912-8.
19. Teh LK, etal., Ther Drug Monit. 2013 Oct;35(5):624-30. doi: 10.1097/FTD.0b013e318290acd2.
20. van Kuilenburg AB, etal., Clin Cancer Res. 2000 Dec;6(12):4705-12.
21. Van Kuilenburg AB, etal., Int J Cancer. 2002 Sep 20;101(3):253-8.
22. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
23. Zhao XQ, etal., Tumour Biol. 2016 Feb 4.
Additional References at PubMed
PMID:1512248   PMID:1544906   PMID:1901022   PMID:2319593   PMID:2528450   PMID:3335642   PMID:7713523   PMID:8083224   PMID:8221682   PMID:8892022   PMID:9135003   PMID:9170156  
PMID:9266349   PMID:9348115   PMID:9439663   PMID:9464498   PMID:10410956   PMID:10606257   PMID:10923099   PMID:11072080   PMID:11267945   PMID:11555601   PMID:11862480   PMID:11895907  
PMID:11988088   PMID:11992400   PMID:12025228   PMID:12047484   PMID:12360106   PMID:12477932   PMID:12576451   PMID:12822071   PMID:12844478   PMID:12851836   PMID:14519634   PMID:14562021  
PMID:14654904   PMID:14702180   PMID:15017333   PMID:15025795   PMID:15069545   PMID:15102667   PMID:15132136   PMID:15254700   PMID:15316940   PMID:15709212   PMID:15939134   PMID:15993511  
PMID:15999119   PMID:16021908   PMID:16132996   PMID:16328315   PMID:16344560   PMID:16361556   PMID:16771603   PMID:16786143   PMID:16806531   PMID:16820886   PMID:16969493   PMID:17000685  
PMID:17046731   PMID:17121937   PMID:17165084   PMID:17203168   PMID:17335544   PMID:17375478   PMID:17377791   PMID:17397246   PMID:17417073   PMID:17445431   PMID:17582309   PMID:17582310  
PMID:17612628   PMID:17699798   PMID:17828463   PMID:17848752   PMID:17876700   PMID:17905396   PMID:18004243   PMID:18075467   PMID:18225548   PMID:18299612   PMID:18347391   PMID:18443386  
PMID:18452418   PMID:18537153   PMID:18619742   PMID:18705276   PMID:18937829   PMID:19020767   PMID:19104657   PMID:19154585   PMID:19178088   PMID:19288105   PMID:19295264   PMID:19296131  
PMID:19343046   PMID:19530960   PMID:19546880   PMID:19571608   PMID:19636001   PMID:19724871   PMID:19795123   PMID:19822137   PMID:19858398   PMID:19898482   PMID:19956635   PMID:20037211  
PMID:20157331   PMID:20379614   PMID:20385995   PMID:20407238   PMID:20453000   PMID:20507294   PMID:20530282   PMID:20544545   PMID:20570913   PMID:20647221   PMID:20647710   PMID:20653680  
PMID:20665215   PMID:20714149   PMID:20714877   PMID:20803296   PMID:20809970   PMID:20819423   PMID:20837458   PMID:21057378   PMID:21111509   PMID:21114665   PMID:21498394   PMID:21507922  
PMID:21612699   PMID:21822266   PMID:21873635   PMID:21919605   PMID:21965773   PMID:22003227   PMID:22006578   PMID:22143355   PMID:22199347   PMID:22270332   PMID:22306127   PMID:22339448  
PMID:22490566   PMID:22510597   PMID:22593457   PMID:22641663   PMID:22688191   PMID:22939629   PMID:23313143   PMID:23401991   PMID:23453885   PMID:23588312   PMID:23597150   PMID:23603345  
PMID:23736036   PMID:23781135   PMID:23930673   PMID:23960437   PMID:23974872   PMID:24104963   PMID:24401318   PMID:24405586   PMID:24455740   PMID:24590654   PMID:24647007   PMID:24648345  
PMID:24722188   PMID:24800948   PMID:24817302   PMID:24923815   PMID:25056061   PMID:25066213   PMID:25112781   PMID:25231870   PMID:25410891   PMID:25416956   PMID:25677447   PMID:25782327  
PMID:25873402   PMID:25906447   PMID:26167880   PMID:26216193   PMID:26265035   PMID:26265346   PMID:26281864   PMID:26344197   PMID:26372896   PMID:26603945   PMID:26609109   PMID:26658227  
PMID:26804235   PMID:26804652   PMID:27072236   PMID:27127154   PMID:27181275   PMID:27248859   PMID:27268079   PMID:27281624   PMID:27399164   PMID:27461651   PMID:27727460   PMID:27741011  
PMID:28024938   PMID:28027897   PMID:28255193   PMID:28476815   PMID:28481884   PMID:28603180   PMID:28614820   PMID:28637434   PMID:28929491   PMID:29065426   PMID:29134491   PMID:29358721  
PMID:29372689   PMID:29507755   PMID:29515256   PMID:29691939   PMID:29906295   PMID:30114658   PMID:30226808   PMID:30746637   PMID:30803213   PMID:31160238   PMID:31653159   PMID:31871216  
PMID:32513696   PMID:32529295   PMID:32546132   PMID:33877893   PMID:34484488  


Genomics

Comparative Map Data
DPYD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl197,077,743 - 97,995,000 (-)EnsemblGRCh38hg38GRCh38
GRCh38197,077,743 - 97,921,059 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37197,543,299 - 98,386,615 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,315,887 - 98,159,203 (-)NCBINCBI36hg18NCBI36
Build 34197,255,322 - 98,098,600NCBI
Celera195,797,301 - 96,640,303 (-)NCBI
Cytogenetic Map1p21.3NCBI
HuRef195,664,181 - 96,508,076 (-)NCBIHuRef
CHM1_1197,659,318 - 98,502,216 (-)NCBICHM1_1
Dpyd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393118,355,758 - 119,226,573 (+)NCBIGRCm39mm39
GRCm39 Ensembl3118,355,778 - 119,226,573 (+)Ensembl
GRCm383118,562,109 - 119,432,924 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3118,562,129 - 119,432,924 (+)EnsemblGRCm38mm10GRCm38
MGSCv373118,265,096 - 119,135,836 (+)NCBIGRCm37mm9NCBIm37
MGSCv363118,554,182 - 119,424,922 (+)NCBImm8
Celera3124,970,410 - 125,843,833 (+)NCBICelera
Cytogenetic Map3G1NCBI
Dpyd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22206,609,043 - 207,474,982 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2206,609,122 - 207,474,982 (+)Ensembl
Rnor_6.02221,823,692 - 222,694,627 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2221,823,687 - 222,694,627 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02239,874,415 - 240,000,215 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.02240,072,322 - 240,744,042 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42214,931,901 - 215,818,809 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12214,894,962 - 215,781,871 (+)NCBI
Celera2199,080,477 - 199,932,183 (+)NCBICelera
Cytogenetic Map2q41NCBI
Dpyd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554352,007,185 - 2,766,138 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554352,007,185 - 2,800,907 (-)NCBIChiLan1.0ChiLan1.0
DPYD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1198,457,934 - 99,300,094 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl198,457,934 - 99,300,100 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0199,736,145 - 100,576,663 (-)NCBIMhudiblu_PPA_v0panPan3
DPYD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1651,789,786 - 52,564,802 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl651,814,573 - 52,580,923 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha654,459,524 - 55,250,294 (+)NCBI
ROS_Cfam_1.0652,128,811 - 52,919,237 (+)NCBI
UMICH_Zoey_3.1651,820,117 - 52,610,968 (+)NCBI
UNSW_CanFamBas_1.0651,800,205 - 52,590,810 (+)NCBI
UU_Cfam_GSD_1.0652,232,854 - 53,023,930 (+)NCBI
Dpyd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405058106,508,890 - 107,287,521 (-)NCBI
SpeTri2.0NW_0049365371,660,461 - 2,439,305 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DPYD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4119,931,458 - 120,712,462 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14119,931,471 - 120,712,461 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24131,845,556 - 132,550,018 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DPYD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12035,376,738 - 36,215,388 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2035,377,266 - 36,215,679 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603555,476 - 898,213 (-)NCBIVero_WHO_p1.0

Position Markers
G34876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,997,653 - 97,997,757UniSTSGRCh37
Build 36197,770,241 - 97,770,345RGDNCBI36
Celera196,251,369 - 96,251,473RGD
Cytogenetic Map1p22UniSTS
HuRef196,118,640 - 96,118,744UniSTS
G30582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,997,475 - 97,997,603UniSTSGRCh37
Build 36197,770,063 - 97,770,191RGDNCBI36
Celera196,251,191 - 96,251,319RGD
Cytogenetic Map1p22UniSTS
HuRef196,118,462 - 96,118,590UniSTS
AL009925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,901,705 - 97,901,826UniSTSGRCh37
Build 36197,674,293 - 97,674,414RGDNCBI36
Celera196,155,435 - 96,155,556RGD
Cytogenetic Map1p22UniSTS
HuRef196,022,722 - 96,022,843UniSTS
AL009912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,299,977 - 98,300,120UniSTSGRCh37
Build 36198,072,565 - 98,072,708RGDNCBI36
Celera196,553,630 - 96,553,773RGD
Cytogenetic Map1p22UniSTS
HuRef196,421,027 - 96,421,170UniSTS
RH80889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,011,653 - 98,011,813UniSTSGRCh37
Build 36197,784,241 - 97,784,401RGDNCBI36
Celera196,265,368 - 96,265,528RGD
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p22UniSTS
HuRef196,132,656 - 96,132,816UniSTS
GeneMap99-GB4 RH Map1269.16UniSTS
AL034016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,207,219 - 98,207,349UniSTSGRCh37
Build 36197,979,807 - 97,979,937RGDNCBI36
Celera196,460,883 - 96,461,013RGD
Cytogenetic Map1p22UniSTS
HuRef196,328,173 - 96,328,303UniSTS
AL034057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,075,175 - 98,075,281UniSTSGRCh37
Build 36197,847,763 - 97,847,869RGDNCBI36
Celera196,328,891 - 96,328,997RGD
Cytogenetic Map1p22UniSTS
HuRef196,196,176 - 96,196,282UniSTS
AL034211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,091,496 - 98,091,579UniSTSGRCh37
Build 36197,864,084 - 97,864,167RGDNCBI36
Celera196,345,212 - 96,345,295RGD
Cytogenetic Map1p22UniSTS
HuRef196,212,497 - 96,212,580UniSTS
SHGC-83640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,554,491 - 97,554,789UniSTSGRCh37
Build 36197,327,079 - 97,327,377RGDNCBI36
Celera195,808,492 - 95,808,790RGD
Cytogenetic Map1p22UniSTS
HuRef195,675,372 - 95,675,670UniSTS
TNG Radiation Hybrid Map152915.0UniSTS
RH103958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,320,071 - 98,320,195UniSTSGRCh37
Build 36198,092,659 - 98,092,783RGDNCBI36
Celera196,573,726 - 96,573,850RGD
Cytogenetic Map1p22UniSTS
HuRef196,441,125 - 96,441,249UniSTS
GeneMap99-GB4 RH Map1275.23UniSTS
SHGC-80046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,888,956 - 97,889,235UniSTSGRCh37
Build 36197,661,544 - 97,661,823RGDNCBI36
Celera196,142,684 - 96,142,963RGD
Cytogenetic Map1p22UniSTS
HuRef196,009,969 - 96,010,248UniSTS
TNG Radiation Hybrid Map153310.0UniSTS
SHGC-80794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,284,958 - 98,285,282UniSTSGRCh37
Build 36198,057,546 - 98,057,870RGDNCBI36
Celera196,538,612 - 96,538,936RGD
Cytogenetic Map1p22UniSTS
HuRef196,405,915 - 96,406,239UniSTS
SHGC-84442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,979,659 - 97,979,940UniSTSGRCh37
Build 36197,752,247 - 97,752,528RGDNCBI36
Celera196,233,375 - 96,233,656RGD
Cytogenetic Map1p22UniSTS
HuRef196,100,650 - 96,100,931UniSTS
TNG Radiation Hybrid Map153339.0UniSTS
RH121366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,980,422 - 97,980,693UniSTSGRCh37
Build 36197,753,010 - 97,753,281RGDNCBI36
Celera196,234,138 - 96,234,409RGD
Cytogenetic Map1p22UniSTS
HuRef196,101,413 - 96,101,684UniSTS
TNG Radiation Hybrid Map153342.0UniSTS
TNG Radiation Hybrid Map153346.0UniSTS
G59961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,347,641 - 98,347,834UniSTSGRCh37
Build 36198,120,229 - 98,120,422RGDNCBI36
Celera196,601,296 - 96,601,489RGD
Cytogenetic Map1p22UniSTS
HuRef196,468,817 - 96,469,010UniSTS
TNG Radiation Hybrid Map154129.0UniSTS
SHGC-105236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,158,887 - 98,159,173UniSTSGRCh37
Build 36197,931,475 - 97,931,761RGDNCBI36
Celera196,412,586 - 96,412,872RGD
Cytogenetic Map1p22UniSTS
HuRef196,279,874 - 96,280,160UniSTS
SHGC-107533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,638,188 - 97,638,531UniSTSGRCh37
Build 36197,410,776 - 97,411,119RGDNCBI36
Celera195,892,097 - 95,892,440RGD
Cytogenetic Map1p22UniSTS
HuRef195,759,029 - 95,759,372UniSTS
TNG Radiation Hybrid Map152860.0UniSTS
SHGC-132118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,543,905 - 97,544,223UniSTSGRCh37
Build 36197,316,493 - 97,316,811RGDNCBI36
Celera195,797,907 - 95,798,225RGD
Cytogenetic Map1p22UniSTS
HuRef195,664,787 - 95,665,105UniSTS
TNG Radiation Hybrid Map152924.0UniSTS
SHGC-75193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,613,941 - 97,614,105UniSTSGRCh37
Build 36197,386,529 - 97,386,693RGDNCBI36
Celera195,867,836 - 95,868,000RGD
Cytogenetic Map1p22UniSTS
HuRef195,734,792 - 95,734,956UniSTS
TNG Radiation Hybrid Map152879.0UniSTS
GeneMap99-GB4 RH Map1274.18UniSTS
NCBI RH Map1652.0UniSTS
AL009678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,109,680 - 98,109,800UniSTSGRCh37
Build 36197,882,268 - 97,882,388RGDNCBI36
Celera196,363,396 - 96,363,516RGD
Cytogenetic Map1p22UniSTS
HuRef196,230,681 - 96,230,801UniSTS
RH66034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,729,968 - 97,730,157UniSTSGRCh37
Build 36197,502,556 - 97,502,745RGDNCBI36
Celera195,983,820 - 95,984,009RGD
Cytogenetic Map1p22UniSTS
HuRef195,850,802 - 95,850,991UniSTS
GeneMap99-GB4 RH Map1273.17UniSTS
NCBI RH Map1652.0UniSTS
AL009994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,008,724 - 98,008,875UniSTSGRCh37
Build 36197,781,312 - 97,781,463RGDNCBI36
Celera196,262,439 - 96,262,590RGD
Cytogenetic Map1p22UniSTS
HuRef196,129,727 - 96,129,878UniSTS
SHGC-12941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,543,923 - 97,544,256UniSTSGRCh37
Build 36197,316,511 - 97,316,844RGDNCBI36
Celera195,797,925 - 95,798,258RGD
Cytogenetic Map1p22UniSTS
Whitehead-YAC Contig Map1 UniSTS
GeneMap99-G3 RH Map14675.0UniSTS
RH17430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376108,192,738 - 108,192,900UniSTSGRCh37
GRCh37198,012,527 - 98,012,689UniSTSGRCh37
Build 36197,785,115 - 97,785,277RGDNCBI36
Celera196,266,242 - 96,266,404RGD
Celera6108,939,533 - 108,939,695UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q21UniSTS
HuRef196,133,530 - 96,133,692UniSTS
HuRef6105,762,031 - 105,762,193UniSTS
GeneMap99-GB4 RH Map6466.71UniSTS
G54618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,347,615 - 98,347,840UniSTSGRCh37
Celera196,601,270 - 96,601,495UniSTS
Cytogenetic Map1p22UniSTS
HuRef196,468,791 - 96,469,016UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR27Bhsa-miR-27b-3pOncomiRDBexternal_infoNANA22306127
MIR134hsa-miR-134-5pOncomiRDBexternal_infoNANA22306127
MIR582hsa-miR-582-5pOncomiRDBexternal_infoNANA22306127
MIR27Ahsa-miR-27a-3pOncomiRDBexternal_infoNANA22306127

Predicted Target Of
Summary Value
Count of predictions:1250
Count of miRNA genes:725
Interacting mature miRNAs:824
Transcripts:ENST00000306031, ENST00000370192, ENST00000423006, ENST00000460019, ENST00000474241
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1390 1863 1130 420 1264 321 2092 665 827 193 773 1375 110 1 1175 1341 1 2
Low 972 1125 593 201 644 140 2111 1524 2740 222 667 223 64 29 1447 3
Below cutoff 28 3 3 3 31 4 149 5 167 3 12 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001160301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001737014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB003063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB162145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF140781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI124948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL645494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX908805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA721123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK480651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U09178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U20938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000306031   ⟹   ENSP00000307107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,719,758 - 97,921,049 (-)Ensembl
RefSeq Acc Id: ENST00000370192   ⟹   ENSP00000359211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,077,743 - 97,921,034 (-)Ensembl
RefSeq Acc Id: ENST00000460019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,855,030 - 97,920,997 (-)Ensembl
RefSeq Acc Id: ENST00000474241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,691,207 - 97,721,654 (-)Ensembl
RefSeq Acc Id: ENST00000646851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,883,264 - 97,995,000 (-)Ensembl
RefSeq Acc Id: NM_000110   ⟹   NP_000101
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,077,743 - 97,921,034 (-)NCBI
GRCh37197,543,299 - 98,386,615 (-)ENTREZGENE
Build 36197,315,887 - 98,159,203 (-)NCBI Archive
HuRef195,664,181 - 96,508,076 (-)ENTREZGENE
CHM1_1197,659,318 - 98,502,216 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001160301   ⟹   NP_001153773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,719,758 - 97,921,059 (-)NCBI
GRCh37197,543,299 - 98,386,615 (-)ENTREZGENE
HuRef195,664,181 - 96,508,076 (-)ENTREZGENE
CHM1_1198,300,965 - 98,502,216 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005270562   ⟹   XP_005270619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,077,743 - 97,921,059 (-)NCBI
GRCh37197,543,299 - 98,386,615 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006710397   ⟹   XP_006710460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,190,233 - 97,921,059 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000507   ⟹   XP_016855996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,077,743 - 97,921,053 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000508   ⟹   XP_016855997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,077,743 - 97,920,997 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000509   ⟹   XP_016855998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,077,743 - 97,920,998 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000510   ⟹   XP_016855999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,077,743 - 97,921,054 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001737014
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,699,492 - 97,921,059 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000101 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153773 (Get FASTA)   NCBI Sequence Viewer  
  XP_005270619 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710460 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855996 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855997 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855998 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855999 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA57474 (Get FASTA)   NCBI Sequence Viewer  
  AAB07049 (Get FASTA)   NCBI Sequence Viewer  
  AAB51366 (Get FASTA)   NCBI Sequence Viewer  
  AAH08379 (Get FASTA)   NCBI Sequence Viewer  
  AAH64027 (Get FASTA)   NCBI Sequence Viewer  
  AAI08743 (Get FASTA)   NCBI Sequence Viewer  
  AAI31778 (Get FASTA)   NCBI Sequence Viewer  
  AAI31779 (Get FASTA)   NCBI Sequence Viewer  
  AAP35386 (Get FASTA)   NCBI Sequence Viewer  
  BAA89789 (Get FASTA)   NCBI Sequence Viewer  
  BAD35129 (Get FASTA)   NCBI Sequence Viewer  
  BAF83906 (Get FASTA)   NCBI Sequence Viewer  
  BAG59923 (Get FASTA)   NCBI Sequence Viewer  
  CAA64973 (Get FASTA)   NCBI Sequence Viewer  
  EAW73002 (Get FASTA)   NCBI Sequence Viewer  
  EAW73003 (Get FASTA)   NCBI Sequence Viewer  
  Q12882 (Get FASTA)   NCBI Sequence Viewer  
  UDL17982 (Get FASTA)   NCBI Sequence Viewer  
  UDL17983 (Get FASTA)   NCBI Sequence Viewer  
  UDL17984 (Get FASTA)   NCBI Sequence Viewer  
  UDL17985 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000101   ⟸   NM_000110
- Peptide Label: isoform 1
- UniProtKB: Q12882 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001153773   ⟸   NM_001160301
- Peptide Label: isoform 2
- UniProtKB: Q12882 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005270619   ⟸   XM_005270562
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006710460   ⟸   XM_006710397
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016855999   ⟸   XM_017000510
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016855998   ⟸   XM_017000509
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016855997   ⟸   XM_017000508
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016855996   ⟸   XM_017000507
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000359211   ⟸   ENST00000370192
RefSeq Acc Id: ENSP00000307107   ⟸   ENST00000306031
Protein Domains
4Fe-4S ferredoxin-type

Promoters
RGD ID:6856308
Promoter ID:EPDNEW_H1319
Type:initiation region
Name:DPYD_1
Description:dihydropyrimidine 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
GRCh38197,921,000 - 97,921,060EPDNEW
RGD ID:6785074
Promoter ID:HG_KWN:3777
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:ENST00000306031,   OTTHUMT00000095698,   OTTHUMT00000095700
Position:
Human AssemblyChrPosition (strand)Source
Build 36198,158,936 - 98,159,457 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000110.3(DPYD):c.1974+1G>A single nucleotide variant not provided [RCV000521535] Chr1:97382392 [GRCh38]
Chr1:97847948 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1905+1G>A single nucleotide variant Autistic disorder of childhood onset [RCV000735355]|Dihydropyrimidine dehydrogenase deficiency [RCV000000460]|Fluorouracil response [RCV000030868]|Hirschsprung disease 1 [RCV000201291]|Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK [RCV000660824]|capecitabine response - Toxicity/ADR, Metabolism/PK [RCV000660822]|fluorouracil response - Toxicity/ADR, Metabolism/PK [RCV000660823]|not provided [RCV000086468]|tegafur response - Toxicity/ADR, Metabolism/PK [RCV000660825] Chr1:97450058 [GRCh38]
Chr1:97915614 [GRCh37]
Chr1:97688202 [NCBI36]
Chr1:1p21.3
pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided
DPYD, 4-BP DEL, 296TCAT deletion Dihydropyrimidine dehydrogenase deficiency [RCV000000463] Chr1:1p22 pathogenic
DPYD, 1-BP DEL, 1897C deletion Dihydropyrimidine dehydrogenase deficiency [RCV000000465] Chr1:1p22 pathogenic
NM_000110.4(DPYD):c.2058+157G>A single nucleotide variant not provided [RCV001571226] Chr1:97373404 [GRCh38]
Chr1:97838960 [GRCh37]
Chr1:1p21.3
likely benign
NM_000110.4(DPYD):c.2564C>G (p.Ala855Gly) single nucleotide variant not provided [RCV000727995] Chr1:97193127 [GRCh38]
Chr1:97658683 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.345G>C (p.Met115Ile) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000765482]|not provided [RCV000519376] Chr1:97721648 [GRCh38]
Chr1:98187204 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2921A>T (p.Asp974Val) single nucleotide variant Fluorouracil response [RCV000030869] Chr1:97079133 [GRCh38]
Chr1:97544689 [GRCh37]
Chr1:1p21.3
pathogenic
NM_000110.3(DPYD):c.234-16132G>C single nucleotide variant Lung cancer [RCV000091053] Chr1:97756611 [GRCh38]
Chr1:98222167 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.40-14756G>A single nucleotide variant Lung cancer [RCV000091054] Chr1:97898130 [GRCh38]
Chr1:98363686 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000000464]|not provided [RCV000711510] Chr1:97883329 [GRCh38]
Chr1:98348885 [GRCh37]
Chr1:1p21.3
pathogenic|benign
NM_000110.3(DPYD):c.2657G>A (p.Arg886His) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000000466] Chr1:97098598 [GRCh38]
Chr1:97564154 [GRCh37]
Chr1:1p21.3
pathogenic|uncertain significance
GRCh38/hg38 1p21.3(chr1:96991619-97565945)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051526]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051526]|See cases [RCV000051526] Chr1:96991619..97565945 [GRCh38]
Chr1:97457175..98031501 [GRCh37]
Chr1:97229763..97804089 [NCBI36]
Chr1:1p21.3
uncertain significance
GRCh38/hg38 1p21.3(chr1:97417705-97919058)x3 copy number gain See cases [RCV000051527] Chr1:97417705..97919058 [GRCh38]
Chr1:97883261..98384614 [GRCh37]
Chr1:97655849..98157202 [NCBI36]
Chr1:1p21.3
uncertain significance
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3
pathogenic
GRCh38/hg38 1p21.3(chr1:96554406-97919058)x1 copy number loss See cases [RCV000053844] Chr1:96554406..97919058 [GRCh38]
Chr1:97019962..98384614 [GRCh37]
Chr1:96792550..98157202 [NCBI36]
Chr1:1p21.3
pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3
pathogenic
NM_000110.3(DPYD):c.2418C>T (p.Leu806=) single nucleotide variant Malignant melanoma [RCV000060272] Chr1:97234876 [GRCh38]
Chr1:97700432 [GRCh37]
Chr1:97473020 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.3(DPYD):c.2383G>A (p.Gly795Arg) single nucleotide variant Malignant melanoma [RCV000060273] Chr1:97234911 [GRCh38]
Chr1:97700467 [GRCh37]
Chr1:97473055 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.3(DPYD):c.498G>A (p.Met166Ile) single nucleotide variant Malignant melanoma [RCV000060274] Chr1:97699533 [GRCh38]
Chr1:98165089 [GRCh37]
Chr1:97937677 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.3(DPYD):c.2365C>T (p.Pro789Ser) single nucleotide variant Malignant melanoma [RCV000064967] Chr1:97234929 [GRCh38]
Chr1:97700485 [GRCh37]
Chr1:97473073 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2276G>A (p.Arg759Gln) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000670569] Chr1:97305282 [GRCh38]
Chr1:97770838 [GRCh37]
Chr1:97543426 [NCBI36]
Chr1:1p21.3
uncertain significance|not provided
NM_000110.3(DPYD):c.1953G>A (p.Thr651=) single nucleotide variant Malignant melanoma [RCV000064969] Chr1:97382414 [GRCh38]
Chr1:97847970 [GRCh37]
Chr1:97620558 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.3(DPYD):c.1209T>C (p.Ile403=) single nucleotide variant Malignant melanoma [RCV000064970] Chr1:97573890 [GRCh38]
Chr1:98039446 [GRCh37]
Chr1:97812034 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.3(DPYD):c.709C>T (p.Pro237Ser) single nucleotide variant Malignant melanoma [RCV000064971] Chr1:97691770 [GRCh38]
Chr1:98157326 [GRCh37]
Chr1:97929914 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.3(DPYD):c.45C>T (p.Ile15=) single nucleotide variant Malignant melanoma [RCV000064972] Chr1:97883369 [GRCh38]
Chr1:98348925 [GRCh37]
Chr1:98121513 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.*961A>G single nucleotide variant not provided [RCV000086442] Chr1:97078015 [GRCh38]
Chr1:97543571 [GRCh37]
Chr1:97316159 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.*911A>G single nucleotide variant not provided [RCV000086443] Chr1:97078065 [GRCh38]
Chr1:97543621 [GRCh37]
Chr1:97316209 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.*900T>C single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000324600]|not provided [RCV000086444] Chr1:97078076 [GRCh38]
Chr1:97543632 [GRCh37]
Chr1:97316220 [NCBI36]
Chr1:1p21.3
likely benign|uncertain significance|not provided
NM_000110.4(DPYD):c.*780C>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000320911]|not provided [RCV000086445] Chr1:97078196 [GRCh38]
Chr1:97543752 [GRCh37]
Chr1:97316340 [NCBI36]
Chr1:1p21.3
benign|likely benign|not provided
NM_000110.4(DPYD):c.*768G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000384818]|not provided [RCV000086446] Chr1:97078208 [GRCh38]
Chr1:97543764 [GRCh37]
Chr1:97316352 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.*736A>T single nucleotide variant not provided [RCV000086447] Chr1:97078240 [GRCh38]
Chr1:97543796 [GRCh37]
Chr1:97316384 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.*573G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000381756]|not provided [RCV000086448] Chr1:97078403 [GRCh38]
Chr1:97543959 [GRCh37]
Chr1:97316547 [NCBI36]
Chr1:1p21.3
benign|likely benign|not provided
NM_000110.4(DPYD):c.*173T>C single nucleotide variant not provided [RCV000086449] Chr1:97078803 [GRCh38]
Chr1:97544359 [GRCh37]
Chr1:97316947 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102225]|not provided [RCV000086450] Chr1:97078987 [GRCh38]
Chr1:97544543 [GRCh37]
Chr1:97317131 [NCBI36]
Chr1:1p21.3
benign|uncertain significance|not provided
NM_000110.4(DPYD):c.2987G>A (p.Cys996Tyr) single nucleotide variant not provided [RCV000086451] Chr1:97079067 [GRCh38]
Chr1:97544623 [GRCh37]
Chr1:97317211 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000410600]|Fluorouracil response [RCV000500980]|Inborn genetic diseases [RCV000623094]|Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK [RCV000417148]|capecitabine response - Toxicity/ADR, Metabolism/PK [RCV000417165]|fluorouracil response - Toxicity/ADR, Metabolism/PK [RCV000417132]|not provided [RCV000086452]|tegafur response - Toxicity/ADR, Metabolism/PK [RCV000417175] Chr1:97082391 [GRCh38]
Chr1:97547947 [GRCh37]
Chr1:97320535 [NCBI36]
Chr1:1p21.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance|other|not provided
NM_000110.4(DPYD):c.2766+19A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000668798]|not provided [RCV000086453] Chr1:97098470 [GRCh38]
Chr1:97564026 [GRCh37]
Chr1:97336614 [NCBI36]
Chr1:1p21.3
likely benign|not provided
NM_000110.4(DPYD):c.2598A>G (p.Pro866=) single nucleotide variant not provided [RCV000086454] Chr1:97193093 [GRCh38]
Chr1:97658649 [GRCh37]
Chr1:97431237 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2532A>G (p.Glu844=) single nucleotide variant not provided [RCV000086455] Chr1:97193159 [GRCh38]
Chr1:97658715 [GRCh37]
Chr1:97431303 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2329G>T (p.Ala777Ser) single nucleotide variant not provided [RCV000086456] Chr1:97234965 [GRCh38]
Chr1:97700521 [GRCh37]
Chr1:97473109 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2301G>T (p.Gly767=) single nucleotide variant not provided [RCV000086457] Chr1:97234993 [GRCh38]
Chr1:97700549 [GRCh37]
Chr1:97473137 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2300-39G>A single nucleotide variant not provided [RCV000086458] Chr1:97235033 [GRCh38]
Chr1:97700589 [GRCh37]
Chr1:97473177 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.2300-40G>T single nucleotide variant not provided [RCV000086459] Chr1:97235034 [GRCh38]
Chr1:97700590 [GRCh37]
Chr1:97473178 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2300-109T>C single nucleotide variant not provided [RCV000086460] Chr1:97235103 [GRCh38]
Chr1:97700659 [GRCh37]
Chr1:97473247 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2299+100C>T single nucleotide variant not provided [RCV000086461] Chr1:97305159 [GRCh38]
Chr1:97770715 [GRCh37]
Chr1:97543303 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000407597]|not provided [RCV000086462]|not specified [RCV000249656] Chr1:97305364 [GRCh38]
Chr1:97770920 [GRCh37]
Chr1:97543508 [NCBI36]
Chr1:1p21.3
benign|likely benign|not provided
NM_000110.4(DPYD):c.2180-44T>C single nucleotide variant not provided [RCV000086463] Chr1:97305422 [GRCh38]
Chr1:97770978 [GRCh37]
Chr1:97543566 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2161G>A (p.Ala721Thr) single nucleotide variant not provided [RCV000086464] Chr1:97306195 [GRCh38]
Chr1:97771751 [GRCh37]
Chr1:97544339 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2058+42A>G single nucleotide variant not provided [RCV000086465] Chr1:97373519 [GRCh38]
Chr1:97839075 [GRCh37]
Chr1:97611663 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.2049C>G (p.Ala683=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001098580]|not provided [RCV000086466] Chr1:97373570 [GRCh38]
Chr1:97839126 [GRCh37]
Chr1:97611714 [NCBI36]
Chr1:1p21.3
uncertain significance|not provided
NM_000110.4(DPYD):c.1974+75A>G single nucleotide variant not provided [RCV000086467] Chr1:97382318 [GRCh38]
Chr1:97847874 [GRCh37]
Chr1:97620462 [NCBI36]
Chr1:1p21.3
benign|not provided
DPYD:c.1905+1G>A single nucleotide variant not provided [RCV000086468] Chr1:97450058 [GRCh38]
Chr1:97915614 [GRCh37]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.1905C>T (p.Asn635=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001098581]|not provided [RCV000086469] Chr1:97450059 [GRCh38]
Chr1:97915615 [GRCh37]
Chr1:97688203 [NCBI36]
Chr1:1p21.3
benign|uncertain significance|not provided
NM_000110.4(DPYD):c.1896T>C (p.Phe632=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000270743]|not provided [RCV000086470]|not specified [RCV000244711] Chr1:97450068 [GRCh38]
Chr1:97915624 [GRCh37]
Chr1:97688212 [NCBI36]
Chr1:1p21.3
benign|likely benign|not provided
NM_000110.4(DPYD):c.1741-65C>T single nucleotide variant not provided [RCV000086471] Chr1:97450288 [GRCh38]
Chr1:97915844 [GRCh37]
Chr1:97688432 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.1740+40A>G single nucleotide variant not provided [RCV000086472] Chr1:97515686 [GRCh38]
Chr1:97981242 [GRCh37]
Chr1:97753830 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.1740+39C>T single nucleotide variant not provided [RCV000086473] Chr1:97515687 [GRCh38]
Chr1:97981243 [GRCh37]
Chr1:97753831 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000410952]|Pyrimidine analogues response - Toxicity/ADR [RCV000211265]|capecitabine response - Toxicity/ADR [RCV000211360]|fluorouracil response - Toxicity/ADR [RCV000211143]|not provided [RCV000086474]|tegafur response - Toxicity/ADR [RCV000211391] Chr1:97515787 [GRCh38]
Chr1:97981343 [GRCh37]
Chr1:97753931 [NCBI36]
Chr1:1p21.3
pathogenic|likely pathogenic|drug response|not provided
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000389596]|not provided [RCV000086475]|not specified [RCV000174446] Chr1:97515839 [GRCh38]
Chr1:97981395 [GRCh37]
Chr1:97753983 [NCBI36]
Chr1:1p21.3
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000110.4(DPYD):c.1615G>A (p.Gly539Arg) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001100346]|not provided [RCV000086476]|not specified [RCV001293626] Chr1:97515851 [GRCh38]
Chr1:97981407 [GRCh37]
Chr1:97753995 [NCBI36]
Chr1:1p21.3
likely benign|uncertain significance|not provided
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000603277]|not provided [RCV000086477]|not specified [RCV000249334] Chr1:97515865 [GRCh38]
Chr1:97981421 [GRCh37]
Chr1:97754009 [NCBI36]
Chr1:1p21.3
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000110.4(DPYD):c.1555C>T (p.Pro519Ser) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000670379]|not provided [RCV000086478] Chr1:97515911 [GRCh38]
Chr1:97981467 [GRCh37]
Chr1:97754055 [NCBI36]
Chr1:1p21.3
uncertain significance|not provided
NM_000110.4(DPYD):c.1524+16C>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000668834]|not provided [RCV000086479]|not specified [RCV000244377] Chr1:97549544 [GRCh38]
Chr1:98015100 [GRCh37]
Chr1:97787688 [NCBI36]
Chr1:1p21.3
likely benign|not provided
NM_000110.4(DPYD):c.1371C>T (p.Asn457=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102322]|not provided [RCV000086480] Chr1:97549713 [GRCh38]
Chr1:98015269 [GRCh37]
Chr1:97787857 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg) single nucleotide variant not provided [RCV000086481] Chr1:97549726 [GRCh38]
Chr1:98015282 [GRCh37]
Chr1:97787870 [NCBI36]
Chr1:1p21.3
uncertain significance|not provided
NM_000110.4(DPYD):c.1340-106T>A single nucleotide variant not provided [RCV000086482] Chr1:97549850 [GRCh38]
Chr1:98015406 [GRCh37]
Chr1:97787994 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102326]|not provided [RCV000086483]|not specified [RCV000252397] Chr1:97573863 [GRCh38]
Chr1:98039419 [GRCh37]
Chr1:97812007 [NCBI36]
Chr1:1p21.3
benign|likely benign|not provided
NM_000110.4(DPYD):c.1218G>A (p.Met406Ile) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001096923]|not provided [RCV000086484]|not specified [RCV001293625] Chr1:97573881 [GRCh38]
Chr1:98039437 [GRCh37]
Chr1:97812025 [NCBI36]
Chr1:1p21.3
benign|uncertain significance|not provided
NM_000110.4(DPYD):c.1129-11T>G single nucleotide variant not provided [RCV000086485] Chr1:97573981 [GRCh38]
Chr1:98039537 [GRCh37]
Chr1:97812125 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.1129-15T>C single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000301819]|not provided [RCV000086486]|not specified [RCV000247408] Chr1:97573985 [GRCh38]
Chr1:98039541 [GRCh37]
Chr1:97812129 [NCBI36]
Chr1:1p21.3
benign|likely benign|not provided
NM_000110.4(DPYD):c.959-51T>C single nucleotide variant not provided [RCV000086487] Chr1:97593438 [GRCh38]
Chr1:98058994 [GRCh37]
Chr1:97831582 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.958+134T>G single nucleotide variant not provided [RCV000086488] Chr1:97594925 [GRCh38]
Chr1:98060481 [GRCh37]
Chr1:97833069 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.958+36A>G single nucleotide variant not provided [RCV000086489] Chr1:97595023 [GRCh38]
Chr1:98060579 [GRCh37]
Chr1:97833167 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.887G>A (p.Gly296Asp) single nucleotide variant not provided [RCV000086490] Chr1:97595130 [GRCh38]
Chr1:98060686 [GRCh37]
Chr1:97833274 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.869A>G (p.Lys290Arg) single nucleotide variant not provided [RCV000086491] Chr1:97595148 [GRCh38]
Chr1:98060704 [GRCh37]
Chr1:97833292 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.851-31C>T single nucleotide variant not provided [RCV000086492] Chr1:97595197 [GRCh38]
Chr1:98060753 [GRCh37]
Chr1:97833341 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.850+90T>C single nucleotide variant not provided [RCV000086493] Chr1:97679005 [GRCh38]
Chr1:98144561 [GRCh37]
Chr1:97917149 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.850+41T>C single nucleotide variant not provided [RCV000086494] Chr1:97679054 [GRCh38]
Chr1:98144610 [GRCh37]
Chr1:97917198 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.763-118A>G single nucleotide variant not provided [RCV000086495] Chr1:97679300 [GRCh38]
Chr1:98144856 [GRCh37]
Chr1:97917444 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000671354]|fluorouracil response - Toxicity/ADR [RCV000786424]|not provided [RCV000086496] Chr1:97699474 [GRCh38]
Chr1:98165030 [GRCh37]
Chr1:97937618 [NCBI36]
Chr1:1p21.3
likely benign|conflicting interpretations of pathogenicity|drug response|not provided
NM_000110.4(DPYD):c.542A>C (p.Lys181Thr) single nucleotide variant not provided [RCV000086497] Chr1:97699489 [GRCh38]
Chr1:98165045 [GRCh37]
Chr1:97937633 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.525G>A (p.Ser175=) single nucleotide variant not provided [RCV000086498] Chr1:97699506 [GRCh38]
Chr1:98165062 [GRCh37]
Chr1:97937650 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.496A>G (p.Met166Val) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000276917]|not provided [RCV000086499]|not specified [RCV000245015] Chr1:97699535 [GRCh38]
Chr1:98165091 [GRCh37]
Chr1:97937679 [NCBI36]
Chr1:1p21.3
benign|likely benign|drug response|not provided
NM_000110.4(DPYD):c.483+18G>A single nucleotide variant not provided [RCV000086500]|not specified [RCV000253011] Chr1:97721492 [GRCh38]
Chr1:98187048 [GRCh37]
Chr1:97959636 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.269G>T (p.Ser90Ile) single nucleotide variant not provided [RCV000086501] Chr1:97740444 [GRCh38]
Chr1:98206000 [GRCh37]
Chr1:97978588 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.265A>T (p.Lys89Ter) single nucleotide variant not provided [RCV000086502] Chr1:97740448 [GRCh38]
Chr1:98206004 [GRCh37]
Chr1:97978592 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.234-81G>A single nucleotide variant not provided [RCV000086503] Chr1:97740560 [GRCh38]
Chr1:98206116 [GRCh37]
Chr1:97978704 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.233+36T>C single nucleotide variant not provided [RCV000086504] Chr1:97828078 [GRCh38]
Chr1:98293634 [GRCh37]
Chr1:98066222 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.151-69G>A single nucleotide variant not provided [RCV000086505] Chr1:97828265 [GRCh38]
Chr1:98293821 [GRCh37]
Chr1:98066409 [NCBI36]
Chr1:1p21.3
not provided
NM_000110.4(DPYD):c.85= (p.Cys29=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000986379]|not provided [RCV000086506] Chr1:97883329 [GRCh38]
Chr1:98348885 [GRCh37]
Chr1:98121473 [NCBI36]
Chr1:1p21.3
benign|not provided
NM_000110.4(DPYD):c.703C>T (p.Arg235Trp) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000362597]|fluorouracil response - Other [RCV000786703] Chr1:97691776 [GRCh38]
Chr1:98157332 [GRCh37]
Chr1:1p21.3
drug response|uncertain significance
NC_000001.11:g.97373639_97373645del deletion Dihydropyrimidine dehydrogenase deficiency [RCV001004162] Chr1:97373636..97373642 [GRCh38]
Chr1:97839192..97839198 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1340-3C>G single nucleotide variant Malignant tumor of prostate [RCV000148993] Chr1:97549747 [GRCh38]
Chr1:98015303 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000409049] Chr1:97305283 [GRCh38]
Chr1:97770839 [GRCh37]
Chr1:1p21.3
pathogenic|likely pathogenic
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000409115] Chr1:97828139 [GRCh38]
Chr1:98293695 [GRCh37]
Chr1:1p21.3
pathogenic|likely pathogenic
GRCh38/hg38 1p21.3(chr1:96800847-97758063)x1 copy number loss See cases [RCV000133753] Chr1:96800847..97758063 [GRCh38]
Chr1:97266403..98223619 [GRCh37]
Chr1:97038991..97996207 [NCBI36]
Chr1:1p21.3
uncertain significance
GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 copy number loss See cases [RCV000135333] Chr1:97272349..108893138 [GRCh38]
Chr1:97737905..109435760 [GRCh37]
Chr1:97510493..109237283 [NCBI36]
Chr1:1p21.3-13.3
pathogenic
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3 copy number gain See cases [RCV000135654] Chr1:83457325..104273917 [GRCh38]
Chr1:83923008..104816539 [GRCh37]
Chr1:83695596..104618062 [NCBI36]
Chr1:1p31.1-21.1
pathogenic
GRCh38/hg38 1p21.3(chr1:97200180-97877546)x1 copy number loss See cases [RCV000135777] Chr1:97200180..97877546 [GRCh38]
Chr1:97665736..98343102 [GRCh37]
Chr1:97438324..98115690 [NCBI36]
Chr1:1p21.3
benign|uncertain significance
GRCh38/hg38 1p21.3(chr1:96124445-99094525)x1 copy number loss See cases [RCV000137528] Chr1:96124445..99094525 [GRCh38]
Chr1:96590001..99560081 [GRCh37]
Chr1:96362589..99332669 [NCBI36]
Chr1:1p21.3
uncertain significance
GRCh38/hg38 1p21.3(chr1:97835065-98270737)x1 copy number loss See cases [RCV000141709] Chr1:97835065..98270737 [GRCh38]
Chr1:98300621..98736293 [GRCh37]
Chr1:98073209..98508881 [NCBI36]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000169198] Chr1:97883353 [GRCh38]
Chr1:98348909 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000169225] Chr1:97373561..97373576 [GRCh38]
Chr1:97839117..97839132 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.3(DPYD):c.1538C>G (p.Ala513Gly) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000385960] Chr1:97515928 [GRCh38]
Chr1:97981484 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.1475C>T (p.Ser492Leu) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000393255] Chr1:97549609 [GRCh38]
Chr1:98015165 [GRCh37]
Chr1:1p21.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000110.3(DPYD):c.*1046C>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000260079] Chr1:97077930 [GRCh38]
Chr1:97543486 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2193C>T (p.Gly731=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000304017] Chr1:97305365 [GRCh38]
Chr1:97770921 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1614C>T (p.Ala538=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000295233] Chr1:97515852 [GRCh38]
Chr1:97981408 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2632A>G (p.Ser878Gly) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000299078] Chr1:97098623 [GRCh38]
Chr1:97564179 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_001160301.1(DPYD):c.-112A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000273493] Chr1:97921034 [GRCh38]
Chr1:98386590 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2180-11G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000264093]|not specified [RCV001175533] Chr1:97305389 [GRCh38]
Chr1:97770945 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1349C>G (p.Ala450Gly) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000286722] Chr1:97549735 [GRCh38]
Chr1:98015291 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.1525-9A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000282171] Chr1:97515950 [GRCh38]
Chr1:97981506 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1048T>C (p.Ser350Pro) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000366115] Chr1:97593298 [GRCh38]
Chr1:98058854 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000986378]|not provided [RCV000224513]|not specified [RCV000249889] Chr1:97679170 [GRCh38]
Chr1:98144726 [GRCh37]
Chr1:1p21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000110.4(DPYD):c.2186C>T (p.Ala729Val) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000358751] Chr1:97305372 [GRCh38]
Chr1:97770928 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.1651G>A (p.Ala551Thr) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000325744]|not provided [RCV000523466] Chr1:97515815 [GRCh38]
Chr1:97981371 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.1525-11G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000337313] Chr1:97515952 [GRCh38]
Chr1:97981508 [GRCh37]
Chr1:1p21.3
likely benign|uncertain significance
NM_000110.4(DPYD):c.995G>A (p.Arg332Gln) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000307854] Chr1:97593351 [GRCh38]
Chr1:98058907 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_001160301.1(DPYD):c.474T>C (p.Phe158=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000331937] Chr1:97721519 [GRCh38]
Chr1:98187075 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.2071G>T (p.Val691Leu) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000328584] Chr1:97306285 [GRCh38]
Chr1:97771841 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.*783G>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000265933] Chr1:97078193 [GRCh38]
Chr1:97543749 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.2528T>C (p.Ile843Thr) single nucleotide variant not provided [RCV000521908] Chr1:97193163 [GRCh38]
Chr1:97658719 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*432T>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000296715] Chr1:97078544 [GRCh38]
Chr1:97544100 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_182914.3(SYNE2):c.12109-10_12109-7del single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000396249]|not provided [RCV001642920] Chr1:97078702 [GRCh38]
Chr1:97544258 [GRCh37]
Chr1:1p21.3
benign|likely benign
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001004163]|not provided [RCV000280781] Chr1:97450190 [GRCh38]
Chr1:97915746 [GRCh37]
Chr1:1p21.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000671369]|not provided [RCV000281091] Chr1:97234991 [GRCh38]
Chr1:97700547 [GRCh37]
Chr1:1p21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000110.4(DPYD):c.*586C>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000345431] Chr1:97078390 [GRCh38]
Chr1:97543946 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2758A>C (p.Thr920Pro) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000400560]|not provided [RCV000711507] Chr1:97098497 [GRCh38]
Chr1:97564053 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1027A>T (p.Thr343Ser) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000401072] Chr1:97593319 [GRCh38]
Chr1:98058875 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.1580C>T (p.Pro527Leu) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000331526] Chr1:97515886 [GRCh38]
Chr1:97981442 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1220A>G (p.Gln407Arg) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000401841] Chr1:97573879 [GRCh38]
Chr1:98039435 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*242G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000293285] Chr1:97078734 [GRCh38]
Chr1:97544290 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_001160301.1(DPYD):c.-122C>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000319215] Chr1:97921044 [GRCh38]
Chr1:98386600 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.-108T>C single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000368032] Chr1:97921030 [GRCh38]
Chr1:98386586 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*282A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000351688] Chr1:97078694 [GRCh38]
Chr1:97544250 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2525G>T (p.Ser842Ile) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000352966] Chr1:97193166 [GRCh38]
Chr1:97658722 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.*193A>C single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000338881] Chr1:97078783 [GRCh38]
Chr1:97544339 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.3(DPYD):c.1340-14A>C single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000341738] Chr1:97549758 [GRCh38]
Chr1:98015314 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*665G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000290469] Chr1:97078311 [GRCh38]
Chr1:97543867 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*852C>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000379109] Chr1:97078124 [GRCh38]
Chr1:97543680 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1243G>T (p.Glu415Ter) single nucleotide variant not provided [RCV000579165] Chr1:97573856 [GRCh38]
Chr1:98039412 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000591104]|not provided [RCV000727535] Chr1:97883280..97883287 [GRCh38]
Chr1:98348836..98348843 [GRCh37]
Chr1:1p21.3
pathogenic|likely pathogenic
NM_000110.4(DPYD):c.2680A>T (p.Lys894Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000409198] Chr1:97098575 [GRCh38]
Chr1:97564131 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1518del (p.Lys505_Tyr506insTer) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000409377] Chr1:97549566 [GRCh38]
Chr1:98015122 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000409394]|not provided [RCV000760487] Chr1:97515785 [GRCh38]
Chr1:97981341 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000409426] Chr1:97450101 [GRCh38]
Chr1:97915657 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.851-1G>C single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000409515] Chr1:97595167 [GRCh38]
Chr1:98060723 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.464T>A (p.Leu155Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001553731] Chr1:97721529 [GRCh38]
Chr1:98187085 [GRCh37]
Chr1:1p21.3
pathogenic
NM_000110.4(DPYD):c.322-1G>C single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000409647] Chr1:97721672 [GRCh38]
Chr1:98187228 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2335_2338delinsGC (p.Thr779fs) indel Dihydropyrimidine dehydrogenase deficiency [RCV000409891] Chr1:97234956..97234959 [GRCh38]
Chr1:97700512..97700515 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.762+2T>C single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000409929] Chr1:97691715 [GRCh38]
Chr1:98157271 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1831G>T (p.Glu611Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000410030] Chr1:97450133 [GRCh38]
Chr1:97915689 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.523del (p.Ser175fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000410066] Chr1:97699508 [GRCh38]
Chr1:98165064 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.680+1G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000409534] Chr1:97699350 [GRCh38]
Chr1:98164906 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.3G>A (p.Met1Ile) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000409638] Chr1:97920920 [GRCh38]
Chr1:98386476 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000410667] Chr1:97699370 [GRCh38]
Chr1:98164926 [GRCh37]
Chr1:1p21.3
pathogenic|likely pathogenic
NM_000110.4(DPYD):c.1970del (p.Ser657fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000410448] Chr1:97382397 [GRCh38]
Chr1:97847953 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.232A>T (p.Arg78Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000410763] Chr1:97828115 [GRCh38]
Chr1:98293671 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000411323] Chr1:97828127 [GRCh38]
Chr1:98293683 [GRCh37]
Chr1:1p21.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs) microsatellite Dihydropyrimidine dehydrogenase deficiency [RCV000411600] Chr1:97593236..97593237 [GRCh38]
Chr1:98058792..98058793 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1727del (p.Phe576fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000411893] Chr1:97515739 [GRCh38]
Chr1:97981295 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2058+1G>C single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000412376] Chr1:97373560 [GRCh38]
Chr1:97839116 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2622+1G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000410613] Chr1:97193068 [GRCh38]
Chr1:97658624 [GRCh37]
Chr1:1p21.3
pathogenic|likely pathogenic
NM_000110.4(DPYD):c.1311del (p.Phe438fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000410794] Chr1:97573788 [GRCh38]
Chr1:98039344 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.483+1G>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000410851] Chr1:97721509 [GRCh38]
Chr1:98187065 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.150+2T>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000410919] Chr1:97883262 [GRCh38]
Chr1:98348818 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2039dup (p.Met680fs) duplication Dihydropyrimidine dehydrogenase deficiency [RCV000411299] Chr1:97373579..97373580 [GRCh38]
Chr1:97839135..97839136 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2589dup (p.Pro864fs) duplication Dihydropyrimidine dehydrogenase deficiency [RCV000411332] Chr1:97193101..97193102 [GRCh38]
Chr1:97658657..97658658 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2003del (p.Asn668fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000411454] Chr1:97373616 [GRCh38]
Chr1:97839172 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1340-2A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000411699] Chr1:97549746 [GRCh38]
Chr1:98015302 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2748del (p.Arg916fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000411760] Chr1:97098507 [GRCh38]
Chr1:97564063 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1316del (p.Gly439fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000411796] Chr1:97573783 [GRCh38]
Chr1:98039339 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.910del (p.Tyr304fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000411932] Chr1:97595107 [GRCh38]
Chr1:98060663 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1524+1G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000412072] Chr1:97549559 [GRCh38]
Chr1:98015115 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2554C>T (p.Gln852Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000412100] Chr1:97193137 [GRCh38]
Chr1:97658693 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1671del (p.Ser558fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000412205] Chr1:97515795 [GRCh38]
Chr1:97981351 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2286_2287insA (p.Gly763fs) insertion Dihydropyrimidine dehydrogenase deficiency [RCV000412243] Chr1:97305271..97305272 [GRCh38]
Chr1:97770827..97770828 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2754del (p.Pro919fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000412342] Chr1:97098501 [GRCh38]
Chr1:97564057 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1339+1G>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000412433] Chr1:97573759 [GRCh38]
Chr1:98039315 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1379dup (p.Leu461fs) duplication Dihydropyrimidine dehydrogenase deficiency [RCV000409743] Chr1:97549704..97549705 [GRCh38]
Chr1:98015260..98015261 [GRCh37]
Chr1:1p21.3
likely pathogenic
GRCh37/hg19 1p21.3(chr1:97545589-97594994)x1 copy number loss See cases [RCV000446337] Chr1:97545589..97594994 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p21.3(chr1:97697334-98471128)x1 copy number loss See cases [RCV000445954] Chr1:97697334..98471128 [GRCh37]
Chr1:1p21.3
uncertain significance
NC_000001.11:g.(?_97754673)_(97877131_?)del deletion Schizophrenia [RCV000416687] Chr1:97754673..97877131 [GRCh38]
Chr1:98220229..98342687 [GRCh37]
Chr1:97992817..98115275 [NCBI36]
Chr1:1p21.3
likely pathogenic
NM_000110.3(DPYD):c.1905+1G>C single nucleotide variant Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK [RCV000417164]|capecitabine response - Toxicity/ADR, Metabolism/PK [RCV000417180]|fluorouracil response - Toxicity/ADR, Metabolism/PK [RCV000417142]|tegafur response - Toxicity/ADR, Metabolism/PK [RCV000417181] Chr1:97450058 [GRCh38]
Chr1:97915614 [GRCh37]
Chr1:1p21.3
drug response
NM_000110.4(DPYD):c.2135del (p.Pro712fs) deletion not provided [RCV000485311] Chr1:97306221 [GRCh38]
Chr1:97771777 [GRCh37]
Chr1:1p21.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000110.3(DPYD):c.2767-1G>A single nucleotide variant not provided [RCV000494044] Chr1:97082471 [GRCh38]
Chr1:97548027 [GRCh37]
Chr1:1p21.3
likely pathogenic
GRCh37/hg19 1p21.3(chr1:98103843-98351211)x1 copy number loss See cases [RCV000511717] Chr1:98103843..98351211 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000669112] Chr1:97828160 [GRCh38]
Chr1:98293716 [GRCh37]
Chr1:1p21.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000110.4(DPYD):c.1121del (p.Pro374fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000669120] Chr1:97593225 [GRCh38]
Chr1:98058781 [GRCh37]
Chr1:1p21.3
likely pathogenic
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
NM_000110.4(DPYD):c.299_302del (p.Phe100fs) microsatellite Dihydropyrimidine dehydrogenase deficiency [RCV000589260]|fluorouracil response - Other [RCV000786531] Chr1:97740411..97740414 [GRCh38]
Chr1:98205967..98205970 [GRCh37]
Chr1:1p21.3
pathogenic|drug response
NM_000110.3(DPYD):c.1415G>A (p.Ser472Asn) single nucleotide variant Inborn genetic diseases [RCV000622294] Chr1:97549669 [GRCh38]
Chr1:98015225 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.233+1G>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000669906] Chr1:97828113 [GRCh38]
Chr1:98293669 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000671470] Chr1:97691775 [GRCh38]
Chr1:98157331 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.3031dup (p.Tyr1011fs) duplication Dihydropyrimidine dehydrogenase deficiency [RCV000671729] Chr1:97079022..97079023 [GRCh38]
Chr1:97544578..97544579 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1024G>A (p.Asp342Asn) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000665570] Chr1:97593322 [GRCh38]
Chr1:98058878 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2872A>G (p.Lys958Glu) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000666781] Chr1:97082365 [GRCh38]
Chr1:97547921 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1108A>G (p.Ile370Val) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000668285] Chr1:97593238 [GRCh38]
Chr1:98058794 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2178del (p.Gly727fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000666149] Chr1:97306178 [GRCh38]
Chr1:97771734 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000674813]|not specified [RCV001553732] Chr1:97234916 [GRCh38]
Chr1:97700472 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000670232] Chr1:97699399 [GRCh38]
Chr1:98164955 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1775G>A (p.Arg592Gln) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000670381] Chr1:97450189 [GRCh38]
Chr1:97915745 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2177_2179+1del microsatellite Dihydropyrimidine dehydrogenase deficiency [RCV000670707] Chr1:97306176..97306179 [GRCh38]
Chr1:97771732..97771735 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.2722A>T (p.Lys908Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000665415] Chr1:97098533 [GRCh38]
Chr1:97564089 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1178del (p.Pro393fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000674165] Chr1:97573921 [GRCh38]
Chr1:98039477 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.45C>A (p.Ile15=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000665756] Chr1:97883369 [GRCh38]
Chr1:98348925 [GRCh37]
Chr1:1p21.3
likely benign
NM_000110.4(DPYD):c.2168C>G (p.Ala723Gly) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000665953] Chr1:97306188 [GRCh38]
Chr1:97771744 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1538C>T (p.Ala513Val) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000674558] Chr1:97515928 [GRCh38]
Chr1:97981484 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2822T>C (p.Val941Ala) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000674560] Chr1:97082415 [GRCh38]
Chr1:97547971 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2908-1G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000668315] Chr1:97079147 [GRCh38]
Chr1:97544703 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000665480] Chr1:97450168 [GRCh38]
Chr1:97915724 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2579del (p.Gln860fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000666839] Chr1:97193112 [GRCh38]
Chr1:97658668 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1041_1042del (p.Ala348fs) microsatellite Dihydropyrimidine dehydrogenase deficiency [RCV000675011] Chr1:97593304..97593305 [GRCh38]
Chr1:98058860..98058861 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1070G>A (p.Arg357His) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000666570] Chr1:97593276 [GRCh38]
Chr1:98058832 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.763-2A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000667742] Chr1:97679184 [GRCh38]
Chr1:98144740 [GRCh37]
Chr1:1p21.3
pathogenic|likely pathogenic
GRCh37/hg19 1p21.3(chr1:98031183-98144976)x1 copy number loss not provided [RCV000684606] Chr1:98031183..98144976 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p21.3(chr1:97876522-98103813)x1 copy number loss not provided [RCV000684605] Chr1:97876522..98103813 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p21.3(chr1:97744762-97952905)x1 copy number loss not provided [RCV000684604] Chr1:97744762..97952905 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1180C>T (p.Arg394Trp) single nucleotide variant not provided [RCV000711503] Chr1:97573919 [GRCh38]
Chr1:98039475 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1654A>G (p.Thr552Ala) single nucleotide variant not provided [RCV000711505] Chr1:97515812 [GRCh38]
Chr1:97981368 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2599C>T (p.Arg867Cys) single nucleotide variant not provided [RCV000711506] Chr1:97193092 [GRCh38]
Chr1:97658648 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.483+601C>G single nucleotide variant not provided [RCV000711508] Chr1:97720909 [GRCh38]
Chr1:98186465 [GRCh37]
Chr1:1p21.3
benign
NM_000110.4(DPYD):c.1310C>T (p.Ala437Val) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001329028]|not provided [RCV000711504] Chr1:97573789 [GRCh38]
Chr1:98039345 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.681-8C>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001104936]|not provided [RCV000711509] Chr1:97691806 [GRCh38]
Chr1:98157362 [GRCh37]
Chr1:1p21.3
benign|likely benign
NM_000110.4(DPYD):c.1503G>A (p.Trp501Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000778264] Chr1:97549581 [GRCh38]
Chr1:98015137 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p21.3(chr1:97457893-97721488)x3 copy number gain not provided [RCV000736578] Chr1:97457893..97721488 [GRCh37]
Chr1:1p21.3
benign
GRCh37/hg19 1p21.3(chr1:97686885-98489080)x3 copy number gain not provided [RCV000736579] Chr1:97686885..98489080 [GRCh37]
Chr1:1p21.3
benign
GRCh37/hg19 1p21.3(chr1:98059803-98079674)x3 copy number gain not provided [RCV000736580] Chr1:98059803..98079674 [GRCh37]
Chr1:1p21.3
benign
GRCh37/hg19 1p21.3(chr1:98155074-98170206)x1 copy number loss not provided [RCV000736581] Chr1:98155074..98170206 [GRCh37]
Chr1:1p21.3
benign
GRCh37/hg19 1p21.3(chr1:98251973-98316285)x1 copy number loss not provided [RCV000736583] Chr1:98251973..98316285 [GRCh37]
Chr1:1p21.3
benign
GRCh37/hg19 1p21.3(chr1:98191375-98327831)x1 copy number loss not provided [RCV000736582] Chr1:98191375..98327831 [GRCh37]
Chr1:1p21.3
benign
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3
pathogenic
NM_000110.4(DPYD):c.2494A>G (p.Thr832Ala) single nucleotide variant not provided [RCV001573464] Chr1:97193197 [GRCh38]
Chr1:97658753 [GRCh37]
Chr1:1p21.3
uncertain significance
null duplication not provided [RCV001586532] Chr1:97234773..97234774 [GRCh38]
Chr1:97700329..97700330 [GRCh37]
Chr1:1p21.3
likely benign
NM_000110.4(DPYD):c.1494A>G (p.Gln498=) single nucleotide variant not provided [RCV000883802] Chr1:97549590 [GRCh38]
Chr1:98015146 [GRCh37]
Chr1:1p21.3
benign
NM_000110.4(DPYD):c.258G>A (p.Pro86=) single nucleotide variant not provided [RCV000970420] Chr1:97740455 [GRCh38]
Chr1:98206011 [GRCh37]
Chr1:1p21.3
likely benign
NM_000110.4(DPYD):c.1764del (p.Arg589fs) deletion Dihydropyrimidine dehydrogenase deficiency [RCV000779011] Chr1:97450200 [GRCh38]
Chr1:97915756 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.658C>T (p.Gln220Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV000780216] Chr1:97699373 [GRCh38]
Chr1:98164929 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.1129-5923C>G single nucleotide variant capecitabine response - Toxicity/ADR [RCV000786532]|fluorouracil response - Toxicity/ADR [RCV000786533] Chr1:97579893 [GRCh38]
Chr1:98045449 [GRCh37]
Chr1:1p21.3
drug response
NM_000110.4(DPYD):c.321+15A>C single nucleotide variant not specified [RCV000781326] Chr1:97740377 [GRCh38]
Chr1:98205933 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001106101]|not provided [RCV000971168]|not specified [RCV000781325] Chr1:97721542 [GRCh38]
Chr1:98187098 [GRCh37]
Chr1:1p21.3
benign|likely benign|uncertain significance
NM_000110.4(DPYD):c.2623-8C>T single nucleotide variant not provided [RCV000942892] Chr1:97098640 [GRCh38]
Chr1:97564196 [GRCh37]
Chr1:1p21.3
likely benign
NM_000110.4(DPYD):c.2915A>G (p.Gln972Arg) single nucleotide variant not provided [RCV000888040] Chr1:97079139 [GRCh38]
Chr1:97544695 [GRCh37]
Chr1:1p21.3
likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_000110.4(DPYD):c.2179+4A>G single nucleotide variant not provided [RCV000840718] Chr1:97306173 [GRCh38]
Chr1:97771729 [GRCh37]
Chr1:1p21.3
likely benign
NM_000110.4(DPYD):c.2074C>T (p.Arg692Trp) single nucleotide variant not provided [RCV000991925] Chr1:97306282 [GRCh38]
Chr1:97771838 [GRCh37]
Chr1:1p21.3
uncertain significance
Single allele deletion Squamous cell carcinoma of the head and neck [RCV000993802] Chr1:97658804..98058774 [GRCh37]
Chr1:1p21.3
likely pathogenic
GRCh37/hg19 1p21.3(chr1:98036616-98250754)x3 copy number gain not provided [RCV000847792] Chr1:98036616..98250754 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p21.3(chr1:97646028-98052358)x1 copy number loss not provided [RCV000849793] Chr1:97646028..98052358 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*503A>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001098471] Chr1:97078473 [GRCh38]
Chr1:97544029 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1229G>A (p.Arg410Gln) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001096921] Chr1:97573870 [GRCh38]
Chr1:98039426 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1228C>T (p.Arg410Trp) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001096922] Chr1:97573871 [GRCh38]
Chr1:98039427 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2983G>T (p.Val995Phe) single nucleotide variant fluorouracil response - Other [RCV000786704] Chr1:97079071 [GRCh38]
Chr1:97544627 [GRCh37]
Chr1:1p21.3
drug response
NM_000110.4(DPYD):c.*635T>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001098469] Chr1:97078341 [GRCh38]
Chr1:97543897 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2084G>T (p.Cys695Phe) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001098579] Chr1:97306272 [GRCh38]
Chr1:97771828 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1898del (p.Pro633fs) deletion fluorouracil response - Other [RCV000786628] Chr1:97450066 [GRCh38]
Chr1:97915622 [GRCh37]
Chr1:1p21.3
drug response
NM_000110.4(DPYD):c.*1000A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001096730] Chr1:97077976 [GRCh38]
Chr1:97543532 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*626G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001098470] Chr1:97078350 [GRCh38]
Chr1:97543906 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1701A>T (p.Gly567=) single nucleotide variant not provided [RCV000914159] Chr1:97515765 [GRCh38]
Chr1:97981321 [GRCh37]
Chr1:1p21.3
likely benign
GRCh37/hg19 1p21.3(chr1:97757431-97798061)x1 copy number loss not provided [RCV000847392] Chr1:97757431..97798061 [GRCh37]
Chr1:1p21.3
pathogenic
GRCh37/hg19 1p21.3(chr1:97905533-97985890)x3 copy number gain not provided [RCV000845600] Chr1:97905533..97985890 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p21.3(chr1:97874956-98098498)x1 copy number loss not provided [RCV000846559] Chr1:97874956..98098498 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.274C>G (p.Pro92Ala) single nucleotide variant not provided [RCV000991926] Chr1:97740439 [GRCh38]
Chr1:98205995 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.623G>T (p.Arg208Leu) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001104938]|not provided [RCV000994051] Chr1:97699408 [GRCh38]
Chr1:98164964 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*1010T>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001096729] Chr1:97077966 [GRCh38]
Chr1:97543522 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.762+5A>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001104934] Chr1:97691712 [GRCh38]
Chr1:98157268 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.483+5G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001104939] Chr1:97721505 [GRCh38]
Chr1:98187061 [GRCh37]
Chr1:1p21.3
uncertain significance
NC_000001.11:g.97921066G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001108323] Chr1:97921066 [GRCh38]
Chr1:98386622 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*673G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001098468] Chr1:97078303 [GRCh38]
Chr1:97543859 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*458T>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001100238] Chr1:97078518 [GRCh38]
Chr1:97544074 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001653199] Chr1:97082275 [GRCh38]
Chr1:97547831 [GRCh37]
Chr1:1p21.3
benign
null single nucleotide variant not provided [RCV001621311] Chr1:97079204 [GRCh38]
Chr1:97544760 [GRCh37]
Chr1:1p21.3
benign
null single nucleotide variant not provided [RCV001695374] Chr1:97382485 [GRCh38]
Chr1:97848041 [GRCh37]
Chr1:1p21.3
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001598463] Chr1:97079215 [GRCh38]
Chr1:97544771 [GRCh37]
Chr1:1p21.3
benign
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723dup) single nucleotide variant not provided [RCV001707031] Chr1:97699212 [GRCh38]
Chr1:98164768 [GRCh37]
Chr1:1p21.3
benign
NM_000110.4(DPYD):c.958+135dup duplication not provided [RCV001561844] Chr1:97594913..97594914 [GRCh38]
Chr1:98060469..98060470 [GRCh37]
Chr1:1p21.3
likely benign
null single nucleotide variant not provided [RCV001709994] Chr1:97373857 [GRCh38]
Chr1:97839413 [GRCh37]
Chr1:1p21.3
benign
null single nucleotide variant not provided [RCV001669492] Chr1:97373297 [GRCh38]
Chr1:97838853 [GRCh37]
Chr1:1p21.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001688895] Chr1:97234569 [GRCh38]
Chr1:97700125 [GRCh37]
Chr1:1p21.3
benign
NM_000110.4(DPYD):c.483+279C>A single nucleotide variant not provided [RCV001562975] Chr1:97721231 [GRCh38]
Chr1:98186787 [GRCh37]
Chr1:1p21.3
likely benign
null single nucleotide variant not provided [RCV001614394] Chr1:97373460 [GRCh38]
Chr1:97839016 [GRCh37]
Chr1:1p21.3
benign
NM_000110.4(DPYD):c.2908-208A>G single nucleotide variant not provided [RCV001565637] Chr1:97079354 [GRCh38]
Chr1:97544910 [GRCh37]
Chr1:1p21.3
likely benign
null single nucleotide variant not provided [RCV001670559] Chr1:97373416 [GRCh38]
Chr1:97838972 [GRCh37]
Chr1:1p21.3
benign
NM_000110.4(DPYD):c.2299+7G>A single nucleotide variant not provided [RCV000954067] Chr1:97305252 [GRCh38]
Chr1:97770808 [GRCh37]
Chr1:1p21.3
likely benign
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) single nucleotide variant not provided [RCV001643700] Chr1:97234689 [GRCh38]
Chr1:97700245 [GRCh37]
Chr1:1p21.3
benign
NM_000110.4(DPYD):c.4G>T (p.Ala2Ser) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001106103] Chr1:97920919 [GRCh38]
Chr1:98386475 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.739C>T (p.Leu247=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001104935] Chr1:97691740 [GRCh38]
Chr1:98157296 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.639C>T (p.Asp213=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001104937] Chr1:97699392 [GRCh38]
Chr1:98164948 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*476G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001100237] Chr1:97078500 [GRCh38]
Chr1:97544056 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2180-3T>C single nucleotide variant not provided [RCV000911465]|not specified [RCV001288946] Chr1:97305381 [GRCh38]
Chr1:97770937 [GRCh37]
Chr1:1p21.3
benign|likely benign
NM_000110.4(DPYD):c.1925T>C (p.Met642Thr) single nucleotide variant not provided [RCV001579723] Chr1:97382442 [GRCh38]
Chr1:97847998 [GRCh37]
Chr1:1p21.3
uncertain significance
null single nucleotide variant not provided [RCV001621003] Chr1:97382584 [GRCh38]
Chr1:97848140 [GRCh37]
Chr1:1p21.3
benign
NM_000110.4(DPYD):c.1128+161G>A single nucleotide variant not provided [RCV001551641] Chr1:97593057 [GRCh38]
Chr1:98058613 [GRCh37]
Chr1:1p21.3
likely benign
NM_000110.4(DPYD):c.484-145T>A single nucleotide variant not provided [RCV001549479] Chr1:97699692 [GRCh38]
Chr1:98165248 [GRCh37]
Chr1:1p21.3
likely benign
null single nucleotide variant not provided [RCV001636229] Chr1:97549384 [GRCh38]
Chr1:98014940 [GRCh37]
Chr1:1p21.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001656950] Chr1:97373298 [GRCh38]
Chr1:97838854 [GRCh37]
Chr1:1p21.3
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001677210] Chr1:97192839 [GRCh38]
Chr1:97658395 [GRCh37]
Chr1:1p21.3
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001608604] Chr1:97692035 [GRCh38]
Chr1:98157591 [GRCh37]
Chr1:1p21.3
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001714055] Chr1:97549925 [GRCh38]
Chr1:98015481 [GRCh37]
Chr1:1p21.3
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) insertion not provided [RCV001608514] Chr1:97515585..97515586 [GRCh38]
Chr1:97981141..97981142 [GRCh37]
Chr1:1p21.3
benign
null single nucleotide variant not provided [RCV001676142] Chr1:97921165 [GRCh38]
Chr1:98386721 [GRCh37]
Chr1:1p21.3
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001598247] Chr1:97373331 [GRCh38]
Chr1:97838887 [GRCh37]
Chr1:1p21.3
benign
null single nucleotide variant not provided [RCV001621088] Chr1:97595421 [GRCh38]
Chr1:98060977 [GRCh37]
Chr1:1p21.3
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001686970] Chr1:97516031 [GRCh38]
Chr1:97981587 [GRCh37]
Chr1:1p21.3
benign
NM_000110.4(DPYD):c.*416C>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001100239] Chr1:97078560 [GRCh38]
Chr1:97544116 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*390A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001100240] Chr1:97078586 [GRCh38]
Chr1:97544142 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*1153A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102144] Chr1:97077823 [GRCh38]
Chr1:97543379 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*159A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102223] Chr1:97078817 [GRCh38]
Chr1:97544373 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*1189G>A single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102143] Chr1:97077787 [GRCh38]
Chr1:97543343 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.3067C>T (p.Pro1023Ser) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102224] Chr1:97078987 [GRCh38]
Chr1:97544543 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1349C>T (p.Ala450Val) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102324] Chr1:97549735 [GRCh38]
Chr1:98015291 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001686035] Chr1:97306391 [GRCh38]
Chr1:97771947 [GRCh37]
Chr1:1p21.3
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001646047] Chr1:97921399 [GRCh38]
Chr1:98386955 [GRCh37]
Chr1:1p21.3
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001680938] Chr1:97082803 [GRCh38]
Chr1:97548359 [GRCh37]
Chr1:1p21.3
benign
null single nucleotide variant not provided [RCV001696075] Chr1:97516150 [GRCh38]
Chr1:97981706 [GRCh37]
Chr1:1p21.3
benign
null single nucleotide variant not provided [RCV001710024] Chr1:97720673 [GRCh38]
Chr1:98186229 [GRCh37]
Chr1:1p21.3
benign
null duplication not provided [RCV001666677] Chr1:97515643..97515644 [GRCh38]
Chr1:97981199..97981200 [GRCh37]
Chr1:1p21.3
benign
NM_000110.4(DPYD):c.1139C>G (p.Ala380Gly) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001250081] Chr1:97573960 [GRCh38]
Chr1:98039516 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2279C>T (p.Thr760Ile) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001096821] Chr1:97305279 [GRCh38]
Chr1:97770835 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.850+13C>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001096924] Chr1:97679082 [GRCh38]
Chr1:98144638 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1369A>G (p.Asn457Asp) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102323] Chr1:97549715 [GRCh38]
Chr1:98015271 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*1062A>G single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102145] Chr1:97077914 [GRCh38]
Chr1:97543470 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2807G>A (p.Gly936Asp) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102226] Chr1:97082430 [GRCh38]
Chr1:97547986 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.48G>A (p.Leu16=) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001106102] Chr1:97883366 [GRCh38]
Chr1:98348922 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2634T>G (p.Ser878Arg) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001096820] Chr1:97098621 [GRCh38]
Chr1:97564177 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1733T>C (p.Leu578Pro) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001100345] Chr1:97515733 [GRCh38]
Chr1:97981289 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.*1050A>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102146] Chr1:97077926 [GRCh38]
Chr1:97543482 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1337A>C (p.Lys446Thr) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001102325] Chr1:97573762 [GRCh38]
Chr1:98039318 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.2357C>A (p.Pro786His) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001253275] Chr1:97234937 [GRCh38]
Chr1:97700493 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p21.3(chr1:97638240-97660637)x1 copy number loss not provided [RCV001259059] Chr1:97638240..97660637 [GRCh37]
Chr1:1p21.3
uncertain significance
GRCh37/hg19 1p21.3(chr1:97510579-97918688)x3 copy number gain not provided [RCV001259060] Chr1:97510579..97918688 [GRCh37]
Chr1:1p21.3
uncertain significance
null single nucleotide variant not provided [RCV001663592] Chr1:97373629 [GRCh38]
Chr1:97839185 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001335114] Chr1:97573943 [GRCh38]
Chr1:98039499 [GRCh37]
Chr1:1p21.3
pathogenic
NM_000110.4(DPYD):c.1129A>G (p.Met377Val) single nucleotide variant Inborn genetic diseases [RCV001266011] Chr1:97573970 [GRCh38]
Chr1:98039526 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.484-5C>T single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001335116] Chr1:97699552 [GRCh38]
Chr1:98165108 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu) single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001329029]|not provided [RCV001551714] Chr1:97740456 [GRCh38]
Chr1:98206012 [GRCh37]
Chr1:1p21.3
likely pathogenic
NM_000110.4(DPYD):c.151-2A>C single nucleotide variant Dihydropyrimidine dehydrogenase deficiency [RCV001335115] Chr1:97828198 [GRCh38]
Chr1:98293754 [GRCh37]
Chr1:1p21.3
pathogenic
NM_000110.4(DPYD):c.2998G>A (p.Asp1000Asn) single nucleotide variant not provided [RCV001358155] Chr1:97079056 [GRCh38]
Chr1:97544612 [GRCh37]
Chr1:1p21.3
uncertain significance
NM_000110.4(DPYD):c.1155_1156del (p.Cys385_Glu386delinsTer) microsatellite Dihydropyrimidine dehydrogenase deficiency [RCV001335113] Chr1:97573943..97573944 [GRCh38]
Chr1:98039499..98039500 [GRCh37]
Chr1:1p21.3
pathogenic
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) duplication not provided [RCV001654057] Chr1:97516066..97516067 [GRCh38]
Chr1:97981622..97981623 [GRCh37]
Chr1:1p21.3
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3012 AgrOrtholog
COSMIC DPYD COSMIC
Ensembl Genes ENSG00000188641 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000307107 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359211 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000306031 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370192 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1060.10 UniProtKB/Swiss-Prot
  3.20.20.70 UniProtKB/Swiss-Prot
  3.50.50.60 UniProtKB/Swiss-Prot
GTEx ENSG00000188641 GTEx
HGNC ID HGNC:3012 ENTREZGENE
Human Proteome Map DPYD Human Proteome Map
InterPro 4Fe4S_Fe-S-bd UniProtKB/Swiss-Prot
  4Fe4S_Fe_S_CS UniProtKB/Swiss-Prot
  Aldolase_TIM UniProtKB/Swiss-Prot
  Dihydroorotate_DH UniProtKB/Swiss-Prot
  DPD_II UniProtKB/Swiss-Prot
  DPYD UniProtKB/Swiss-Prot
  FAD/NAD-bd_sf UniProtKB/Swiss-Prot
  FAD/NAD-binding_dom UniProtKB/Swiss-Prot
  Helical_ferredxn UniProtKB/Swiss-Prot
KEGG Report hsa:1806 UniProtKB/Swiss-Prot
NCBI Gene 1806 ENTREZGENE
OMIM 274270 OMIM
  612779 OMIM
PANTHER PTHR43073 UniProtKB/Swiss-Prot
Pfam DHO_dh UniProtKB/Swiss-Prot
  Fer4_20 UniProtKB/Swiss-Prot
  Pyr_redox_2 UniProtKB/Swiss-Prot
PharmGKB DPYD RGD, PharmGKB