QDPR (quinoid dihydropteridine reductase) - Rat Genome Database

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Gene: QDPR (quinoid dihydropteridine reductase) Homo sapiens
Analyze
Symbol: QDPR
Name: quinoid dihydropteridine reductase
RGD ID: 734380
HGNC Page HGNC:9752
Description: Enables 6,7-dihydropteridine reductase activity. Predicted to be involved in L-phenylalanine catabolic process and tetrahydrobiopterin biosynthetic process. Located in cytoplasm. Implicated in BH4-deficient hyperphenylalaninemia C and phenylketonuria.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 6,7-dihydropteridine reductase; DHPR; dihydropteridine reductase; FLJ42391; HDHPR; PKU2; SDR33C1; short chain dehydrogenase/reductase family 33C member 1; short chain dehydrogenase/reductase family 33C, member 1; testis secretory sperm-binding protein Li 236P
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38417,486,395 - 17,512,090 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl417,460,261 - 17,512,206 (-)EnsemblGRCh38hg38GRCh38
GRCh37417,488,018 - 17,513,713 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36417,097,121 - 17,154,822 (-)NCBINCBI36Build 36hg18NCBI36
Build 34417,164,291 - 17,189,982NCBI
Celera417,953,005 - 17,978,851 (-)NCBICelera
Cytogenetic Map4p15.32NCBI
HuRef416,842,683 - 16,868,527 (-)NCBIHuRef
CHM1_1417,485,950 - 17,511,774 (-)NCBICHM1_1
T2T-CHM13v2.0417,468,141 - 17,493,839 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
acetamide  (ISO)
aconitine  (ISO)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (ISO)
alachlor  (ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clozapine  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
ethyl methanesulfonate  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
folpet  (ISO)
fumonisin B1  (ISO)
gentamycin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
miconazole  (ISO)
N-nitrosodiethylamine  (ISO)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
nitrates  (ISO)
Nutlin-3  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
pirinixic acid  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triptonide  (ISO)
tungsten  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Proteome changes associated with hippocampal MRI abnormalities in the lithium pilocarpine-induced model of convulsive status epilepticus. Greene ND, etal., Proteomics. 2007 Apr;7(8):1336-44.
3. Tetrahydrobiopterin metabolism in the streptozotocin induced diabetic state in rats. Hamon CG, etal., Clin Chim Acta. 1989 May 31;181(3):249-53.
4. Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. Howells DW, etal., Am J Hum Genet. 1990 Aug;47(2):279-85.
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. Catecholaminergic systems in stress: structural and molecular genetic approaches. Kvetnansky R, etal., Physiol Rev. 2009 Apr;89(2):535-606.
7. Diminished expression of dihydropteridine reductase is a potent biomarker for hypertensive vessels. Lee CK, etal., Proteomics. 2009 Nov;9(21):4851-8.
8. Effect of chronic lead exposure on biopterin metabolism in the rat neostriatum. Martinez-Fong D, etal., J Neurosci Res. 1990 May;26(1):112-4.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1160969   PMID:2330583   PMID:3031582   PMID:3033643   PMID:3587329   PMID:3666748   PMID:3711039   PMID:3718470   PMID:6746636   PMID:6797415   PMID:7627180   PMID:7744010  
PMID:8125298   PMID:8137944   PMID:8262916   PMID:8326489   PMID:9427141   PMID:9744478   PMID:10408783   PMID:11076863   PMID:11153907   PMID:11256614   PMID:11461190   PMID:11937441  
PMID:12477932   PMID:14718574   PMID:15009710   PMID:15174051   PMID:15489334   PMID:15489336   PMID:16341674   PMID:16381901   PMID:17188538   PMID:18425437   PMID:18444252   PMID:19027726  
PMID:19056867   PMID:19405953   PMID:19491146   PMID:19674121   PMID:20201926   PMID:20379614   PMID:20468064   PMID:20471030   PMID:20877624   PMID:21145461   PMID:21239886   PMID:21565611  
PMID:21873635   PMID:22020936   PMID:23376485   PMID:23533145   PMID:25124972   PMID:25416956   PMID:25640309   PMID:26344197   PMID:27613114   PMID:28298427   PMID:28633336   PMID:29355631  
PMID:29564676   PMID:30997501   PMID:31540324   PMID:32296183   PMID:32393512   PMID:33729478   PMID:33961781   PMID:34732716   PMID:34800366   PMID:35063084   PMID:35271311   PMID:35944360  
PMID:36215168   PMID:37382215   PMID:38642552  


Genomics

Comparative Map Data
QDPR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38417,486,395 - 17,512,090 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl417,460,261 - 17,512,206 (-)EnsemblGRCh38hg38GRCh38
GRCh37417,488,018 - 17,513,713 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36417,097,121 - 17,154,822 (-)NCBINCBI36Build 36hg18NCBI36
Build 34417,164,291 - 17,189,982NCBI
Celera417,953,005 - 17,978,851 (-)NCBICelera
Cytogenetic Map4p15.32NCBI
HuRef416,842,683 - 16,868,527 (-)NCBIHuRef
CHM1_1417,485,950 - 17,511,774 (-)NCBICHM1_1
T2T-CHM13v2.0417,468,141 - 17,493,839 (-)NCBIT2T-CHM13v2.0
Qdpr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39545,591,374 - 45,607,571 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl545,591,363 - 45,607,578 (-)EnsemblGRCm39 Ensembl
GRCm38545,434,032 - 45,450,229 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl545,434,021 - 45,450,236 (-)EnsemblGRCm38mm10GRCm38
MGSCv37545,825,271 - 45,841,468 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36545,722,303 - 45,738,405 (-)NCBIMGSCv36mm8
Celera542,859,912 - 42,876,126 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map524.9NCBI
Qdpr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81469,882,776 - 69,896,378 (+)NCBIGRCr8
mRatBN7.21465,670,251 - 65,683,853 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1465,670,131 - 65,683,854 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1470,063,070 - 70,076,654 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01471,350,269 - 71,363,871 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01467,773,459 - 67,787,043 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01470,164,682 - 70,178,284 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1470,164,650 - 70,178,284 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01470,207,866 - 70,221,468 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41470,741,998 - 70,755,600 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11470,744,388 - 70,757,991 (+)NCBI
Celera1464,651,352 - 64,664,952 (+)NCBICelera
RH 3.4 Map14474.3RGD
Cytogenetic Map14q11NCBI
Qdpr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554806,646,088 - 6,669,526 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554806,646,088 - 6,666,866 (+)NCBIChiLan1.0ChiLan1.0
QDPR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2317,748,236 - 17,773,952 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1417,945,618 - 17,971,298 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0411,906,439 - 11,932,311 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1417,199,772 - 17,225,667 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl417,199,772 - 17,225,667 (-)Ensemblpanpan1.1panPan2
QDPR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1362,970,850 - 62,987,512 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl362,970,121 - 63,028,395 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha365,486,672 - 65,503,339 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0363,445,733 - 63,462,419 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl363,444,950 - 63,462,417 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1362,936,851 - 62,953,518 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0363,140,819 - 63,157,481 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0363,500,293 - 63,516,958 (+)NCBIUU_Cfam_GSD_1.0
Qdpr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528556,985,664 - 57,006,322 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647710,687,276 - 10,708,031 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647710,687,328 - 10,708,015 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
QDPR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl812,529,512 - 12,549,603 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1812,529,500 - 12,549,471 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2812,332,191 - 12,351,742 (-)NCBISscrofa10.2Sscrofa10.2susScr3
QDPR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12732,697,582 - 32,723,616 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2732,697,599 - 32,723,016 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604779,429,420 - 79,455,598 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Qdpr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475514,333,235 - 14,357,159 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475514,333,308 - 14,353,949 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in QDPR
332 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000320.3(QDPR):c.366_368dup (p.Thr123dup) duplication Dihydropteridine reductase deficiency [RCV000000518] Chr4:17501786..17501787 [GRCh38]
Chr4:17503409..17503410 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.437-429A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV000000522] Chr4:17492769 [GRCh38]
Chr4:17494392 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.472C>T (p.His158Tyr) single nucleotide variant Dihydropteridine reductase deficiency [RCV000609988] Chr4:17492305 [GRCh38]
Chr4:17493928 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp) single nucleotide variant Dihydropteridine reductase deficiency [RCV000000519]|Hyperphenylalaninemia due to tetrahydrobiopterin deficiency [RCV003153240] Chr4:17511987 [GRCh38]
Chr4:17513610 [GRCh37]
Chr4:4p15.32		 pathogenic|likely pathogenic
NM_000320.3(QDPR):c.322T>G (p.Trp108Gly) single nucleotide variant Dihydropteridine reductase deficiency [RCV000000520] Chr4:17501833 [GRCh38]
Chr4:17503456 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.106T>C (p.Trp36Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV000000521] Chr4:17509363 [GRCh38]
Chr4:17510986 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.449A>G (p.Tyr150Cys) single nucleotide variant Dihydropteridine reductase deficiency [RCV000000523]|not provided [RCV001558625] Chr4:17492328 [GRCh38]
Chr4:17493951 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.270G>A (p.Trp90Ter) single nucleotide variant Dihydropteridine reductase deficiency [RCV000000524] Chr4:17504404 [GRCh38]
Chr4:17506027 [GRCh37]
Chr4:4p15.32		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1 copy number loss See cases [RCV000051220] Chr4:14061129..20121834 [GRCh38]
Chr4:14062753..20123457 [GRCh37]
Chr4:13671851..19732555 [NCBI36]
Chr4:4p15.33-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3 copy number gain See cases [RCV000051769] Chr4:14659764..18274924 [GRCh38]
Chr4:14661388..18276547 [GRCh37]
Chr4:14270486..17885645 [NCBI36]
Chr4:4p15.33-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
NM_001079827.2(CLRN2):c.114C>T (p.Ile38=) single nucleotide variant Malignant melanoma [RCV000066336] Chr4:17515380 [GRCh38]
Chr4:17517003 [GRCh37]
Chr4:17126101 [NCBI36]
Chr4:4p15.32		 not provided
NM_000320.3(QDPR):c.73C>T (p.Arg25Ter) single nucleotide variant Dihydropteridine reductase deficiency [RCV004799825] Chr4:17511982 [GRCh38]
Chr4:17513605 [GRCh37]
Chr4:4p15.32		 pathogenic
GRCh37/hg19 4p15.32-15.31(chr4:16830399-17805183)x3 copy number gain See cases [RCV000184072] Chr4:16830399..17805183 [GRCh37]
Chr4:4p15.32-15.31		 uncertain significance
NM_000320.3(QDPR):c.8C>T (p.Ala3Val) single nucleotide variant Dihydropteridine reductase deficiency [RCV001294375] Chr4:17512047 [GRCh38]
Chr4:17513670 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.105+17G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV002060215]|not provided [RCV000513884]|not specified [RCV001701027] Chr4:17511933 [GRCh38]
Chr4:17513556 [GRCh37]
Chr4:4p15.32		 benign|likely benign
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1 copy number loss See cases [RCV000135806] Chr4:16925022..32113076 [GRCh38]
Chr4:16926645..32114698 [GRCh37]
Chr4:16535743..31758596 [NCBI36]
Chr4:4p15.32-15.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p15.32-15.2(chr4:17041381-22524915)x1 copy number loss See cases [RCV000139200] Chr4:17041381..22524915 [GRCh38]
Chr4:17043004..22526538 [GRCh37]
Chr4:16652102..22135636 [NCBI36]
Chr4:4p15.32-15.2		 uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31		 pathogenic
NM_000320.3(QDPR):c.630-17T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV000614475]|not specified [RCV001700247] Chr4:17487253 [GRCh38]
Chr4:17488876 [GRCh37]
Chr4:4p15.32		 benign|likely benign
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_000320.3(QDPR):c.396G>A (p.Leu132=) single nucleotide variant Dihydropteridine reductase deficiency [RCV000609297]|not provided [RCV001668424]|not specified [RCV000241633] Chr4:17501759 [GRCh38]
Chr4:17503382 [GRCh37]
Chr4:4p15.32		 benign
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_000320.3(QDPR):c.-24G>T single nucleotide variant Dihydropteridine reductase deficiency [RCV000276068] Chr4:17512078 [GRCh38]
Chr4:17513701 [GRCh37]
Chr4:4p15.32		 likely benign|uncertain significance
NM_000320.3(QDPR):c.*568T>G single nucleotide variant Dihydropteridine reductase deficiency [RCV000266139] Chr4:17486563 [GRCh38]
Chr4:17488186 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.-81del deletion BH4-Deficient Hyperphenylalaninemia [RCV000272562]|Dihydropteridine reductase deficiency [RCV002502340]|not provided [RCV001672640] Chr4:17512135 [GRCh38]
Chr4:17513758 [GRCh37]
Chr4:4p15.32		 benign|likely benign
NM_000320.3(QDPR):c.*278G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV000332540] Chr4:17486853 [GRCh38]
Chr4:17488476 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.271G>T (p.Ala91Ser) single nucleotide variant Dihydropteridine reductase deficiency [RCV000398450] Chr4:17504403 [GRCh38]
Chr4:17506026 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.345G>A (p.Ser115=) single nucleotide variant Dihydropteridine reductase deficiency [RCV000300638]|not provided [RCV001691998] Chr4:17501810 [GRCh38]
Chr4:17503433 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*510C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV000302420]|not provided [RCV004716186] Chr4:17486621 [GRCh38]
Chr4:17488244 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.296-15G>T single nucleotide variant Dihydropteridine reductase deficiency [RCV000355231] Chr4:17501874 [GRCh38]
Chr4:17503497 [GRCh37]
Chr4:4p15.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000320.3(QDPR):c.*408C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV000317800]|not provided [RCV004716188] Chr4:17486723 [GRCh38]
Chr4:17488346 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*468A>C single nucleotide variant Dihydropteridine reductase deficiency [RCV000357320]|not provided [RCV004716187] Chr4:17486663 [GRCh38]
Chr4:17488286 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*31C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV000289592] Chr4:17487100 [GRCh38]
Chr4:17488723 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.516G>C (p.Pro172=) single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000304103]|Dihydropteridine reductase deficiency [RCV002057924] Chr4:17492261 [GRCh38]
Chr4:17493884 [GRCh37]
Chr4:4p15.32		 likely benign|uncertain significance
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) single nucleotide variant Dihydropteridine reductase deficiency [RCV000946220]|Inborn genetic diseases [RCV002520226] Chr4:17490703 [GRCh38]
Chr4:17492326 [GRCh37]
Chr4:4p15.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000320.3(QDPR):c.*622T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV000360834]|not provided [RCV004716185] Chr4:17486509 [GRCh38]
Chr4:17488132 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*220T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV000383998]|not provided [RCV001613147] Chr4:17486911 [GRCh38]
Chr4:17488534 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*682A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV000306402]|not provided [RCV004716184] Chr4:17486449 [GRCh38]
Chr4:17488072 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*246del deletion BH4-Deficient Hyperphenylalaninemia [RCV000387060]|not provided [RCV001691997] Chr4:17486885 [GRCh38]
Chr4:17488508 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*221G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV000293200]|not provided [RCV001618622] Chr4:17486910 [GRCh38]
Chr4:17488533 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*11_*12del deletion BH4-Deficient Hyperphenylalaninemia [RCV000344453] Chr4:17487119..17487120 [GRCh38]
Chr4:17488742..17488743 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.2(QDPR):c.-81C>T single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000327752]|not provided [RCV001712136] Chr4:17512135 [GRCh38]
Chr4:17513758 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*220_*221inv inversion BH4-Deficient Hyperphenylalaninemia [RCV000348107] Chr4:17486910..17486911 [GRCh38]
Chr4:17488533..17488534 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.157A>G (p.Ile53Val) single nucleotide variant Dihydropteridine reductase deficiency [RCV000370405] Chr4:17509312 [GRCh38]
Chr4:17510935 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.255C>T (p.Cys85=) single nucleotide variant Dihydropteridine reductase deficiency [RCV000543193]|not provided [RCV001709620] Chr4:17504419 [GRCh38]
Chr4:17506042 [GRCh37]
Chr4:4p15.32		 benign|likely benign
NM_000320.3(QDPR):c.-47C>G single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000331176]|Dihydropteridine reductase deficiency [RCV001795966]|not provided [RCV001683387] Chr4:17512101 [GRCh38]
Chr4:17513724 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*403A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV000372550]|not provided [RCV004716189] Chr4:17486728 [GRCh38]
Chr4:17488351 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.*690A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV000396492]|not provided [RCV004716183] Chr4:17486441 [GRCh38]
Chr4:17488064 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.29C>T (p.Ala10Val) single nucleotide variant Dihydropteridine reductase deficiency [RCV001855185]|Inborn genetic diseases [RCV003165750]|not provided [RCV000347923] Chr4:17512026 [GRCh38]
Chr4:17513649 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.*450T>A single nucleotide variant Dihydropteridine reductase deficiency [RCV000262652] Chr4:17486681 [GRCh38]
Chr4:17488304 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.96C>T (p.Ala32=) single nucleotide variant Dihydropteridine reductase deficiency [RCV000546372]|not provided [RCV004715839]|not specified [RCV000394706] Chr4:17511959 [GRCh38]
Chr4:17513582 [GRCh37]
Chr4:4p15.32		 benign|conflicting interpretations of pathogenicity
NM_000320.3(QDPR):c.*329T>G single nucleotide variant Dihydropteridine reductase deficiency [RCV000278023] Chr4:17486802 [GRCh38]
Chr4:17488425 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_000320.3(QDPR):c.79G>A (p.Val27Met) single nucleotide variant not provided [RCV000520370] Chr4:17511976 [GRCh38]
Chr4:17513599 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.2(QDPR):c.-111G>C single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000382276] Chr4:17512165 [GRCh38]
Chr4:17513788 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.2(QDPR):c.-76delT deletion BH4-Deficient Hyperphenylalaninemia [RCV000367044] Chr4:17512129 [GRCh38]
Chr4:17513752 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.437-6T>A single nucleotide variant Dihydropteridine reductase deficiency [RCV000340250] Chr4:17492346 [GRCh38]
Chr4:17493969 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p15.32-15.31(chr4:16834640-17818885)x3 copy number gain See cases [RCV000599152] Chr4:16834640..17818885 [GRCh37]
Chr4:4p15.32-15.31		 uncertain significance
NM_000320.3(QDPR):c.1A>T (p.Met1Leu) single nucleotide variant Dihydropteridine reductase deficiency [RCV001379855]|not provided [RCV000599613] Chr4:17512054 [GRCh38]
Chr4:17513677 [GRCh37]
Chr4:4p15.32		 pathogenic|likely pathogenic
NM_000320.3(QDPR):c.365C>A (p.Ala122Asp) single nucleotide variant Dihydropteridine reductase deficiency [RCV000536037] Chr4:17501790 [GRCh38]
Chr4:17503413 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_000320.3(QDPR):c.296-5C>T single nucleotide variant not specified [RCV000434437] Chr4:17501864 [GRCh38]
Chr4:17503487 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p15.32-15.31(chr4:16922258-17800667) copy number gain Abnormal esophagus morphology [RCV000416792] Chr4:16922258..17800667 [GRCh37]
Chr4:4p15.32-15.31		 likely benign
GRCh37/hg19 4p15.32-15.31(chr4:16826659-17818949)x3 copy number gain See cases [RCV000448351] Chr4:16826659..17818949 [GRCh37]
Chr4:4p15.32-15.31		 uncertain significance
NM_000320.3(QDPR):c.44T>C (p.Val15Ala) single nucleotide variant not provided [RCV000497968] Chr4:17512011 [GRCh38]
Chr4:17513634 [GRCh37]
Chr4:4p15.32		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_000320.3(QDPR):c.423G>A (p.Leu141=) single nucleotide variant Dihydropteridine reductase deficiency [RCV000602018]|not provided [RCV001700174] Chr4:17501732 [GRCh38]
Chr4:17503355 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu) single nucleotide variant Dihydropteridine reductase deficiency [RCV000557581]|not provided [RCV003322781] Chr4:17501811 [GRCh38]
Chr4:17503434 [GRCh37]
Chr4:4p15.32		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_000320.3(QDPR):c.450C>T (p.Tyr150=) single nucleotide variant Dihydropteridine reductase deficiency [RCV000634830]|QDPR-related disorder [RCV003945600] Chr4:17492327 [GRCh38]
Chr4:17493950 [GRCh37]
Chr4:4p15.32		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_000320.3(QDPR):c.48C>G (p.Tyr16Ter) single nucleotide variant Dihydropteridine reductase deficiency [RCV000687616] Chr4:17512007 [GRCh38]
Chr4:17513630 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.635T>A (p.Phe212Tyr) single nucleotide variant Dihydropteridine reductase deficiency [RCV000692902] Chr4:17487231 [GRCh38]
Chr4:17488854 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.148G>A (p.Ala50Thr) single nucleotide variant Dihydropteridine reductase deficiency [RCV000696173] Chr4:17509321 [GRCh38]
Chr4:17510944 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p15.32-15.31(chr4:16822918-17818885)x3 copy number gain not provided [RCV000743429] Chr4:16822918..17818885 [GRCh37]
Chr4:4p15.32-15.31		 benign
GRCh37/hg19 4p15.32-15.31(chr4:16825299-17809538)x3 copy number gain not provided [RCV000743430] Chr4:16825299..17809538 [GRCh37]
Chr4:4p15.32-15.31		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_000320.3(QDPR):c.630-144A>G single nucleotide variant not provided [RCV001665805] Chr4:17487380 [GRCh38]
Chr4:17489003 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.437-91T>C single nucleotide variant not provided [RCV001533860] Chr4:17492431 [GRCh38]
Chr4:17494054 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.629+237C>T single nucleotide variant not provided [RCV001583573] Chr4:17490425 [GRCh38]
Chr4:17492048 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV000761465] Chr4:17512006 [GRCh38]
Chr4:17513629 [GRCh37]
Chr4:4p15.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000320.3(QDPR):c.287A>G (p.Lys96Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV001146432] Chr4:17504387 [GRCh38]
Chr4:17506010 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.421del (p.Leu141fs) deletion 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV001813807]|Dihydropteridine reductase deficiency [RCV000987429] Chr4:17501734 [GRCh38]
Chr4:17503357 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.105+115T>C single nucleotide variant not provided [RCV001641489] Chr4:17511835 [GRCh38]
Chr4:17513458 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.629+140A>G single nucleotide variant not provided [RCV001665223] Chr4:17490522 [GRCh38]
Chr4:17492145 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.199-9G>C single nucleotide variant not provided [RCV001668035] Chr4:17504484 [GRCh38]
Chr4:17506107 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.296-216A>G single nucleotide variant not provided [RCV001690555] Chr4:17502075 [GRCh38]
Chr4:17503698 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.18T>C (p.Ala6=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002065971]|QDPR-related disorder [RCV003923286] Chr4:17512037 [GRCh38]
Chr4:17513660 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.519C>T (p.Pro173=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002065913] Chr4:17492258 [GRCh38]
Chr4:17493881 [GRCh37]
Chr4:4p15.32		 likely benign
NC_000004.12:g.8398067_17505522inv inversion Dihydropteridine reductase deficiency [RCV000768549] Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32		 pathogenic
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1		 pathogenic
NM_000320.3(QDPR):c.546-2A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV000813717] Chr4:17490747 [GRCh38]
Chr4:17492370 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.490C>G (p.Leu164Val) single nucleotide variant Dihydropteridine reductase deficiency [RCV000815990] Chr4:17492287 [GRCh38]
Chr4:17493910 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter) single nucleotide variant Dihydropteridine reductase deficiency [RCV000987428] Chr4:17487205 [GRCh38]
Chr4:17488828 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.*103C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV001150595] Chr4:17487028 [GRCh38]
Chr4:17488651 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.*612T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV001146288] Chr4:17486519 [GRCh38]
Chr4:17488142 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.297T>C (p.Ser99=) single nucleotide variant Dihydropteridine reductase deficiency [RCV001146431] Chr4:17501858 [GRCh38]
Chr4:17503481 [GRCh37]
Chr4:4p15.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000320.3(QDPR):c.*187A>C single nucleotide variant Dihydropteridine reductase deficiency [RCV001150594] Chr4:17486944 [GRCh38]
Chr4:17488567 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.545+2dup duplication Dihydropteridine reductase deficiency [RCV001047214] Chr4:17492229..17492230 [GRCh38]
Chr4:17493852..17493853 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p15.32-15.31(chr4:16826786-17818949)x3 copy number gain not provided [RCV001005526] Chr4:16826786..17818949 [GRCh37]
Chr4:4p15.32-15.31		 likely benign
NM_000320.3(QDPR):c.662G>A (p.Arg221Gln) single nucleotide variant Dihydropteridine reductase deficiency [RCV001226766] Chr4:17487204 [GRCh38]
Chr4:17488827 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1 copy number loss not provided [RCV000998337] Chr4:13529798..22750583 [GRCh37]
Chr4:4p15.33-15.2		 uncertain significance
NM_000320.3(QDPR):c.174del (p.Ser59fs) deletion Dihydropteridine reductase deficiency [RCV000987430] Chr4:17509295 [GRCh38]
Chr4:17510918 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.-17G>T single nucleotide variant Dihydropteridine reductase deficiency [RCV001149209] Chr4:17512071 [GRCh38]
Chr4:17513694 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.342A>G (p.Thr114=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003104364] Chr4:17501813 [GRCh38]
Chr4:17503436 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.106-256G>A single nucleotide variant not provided [RCV001688181] Chr4:17509619 [GRCh38]
Chr4:17511242 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.296-64G>A single nucleotide variant not provided [RCV001608325] Chr4:17501923 [GRCh38]
Chr4:17503546 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.437-66A>G single nucleotide variant not provided [RCV001679396] Chr4:17492406 [GRCh38]
Chr4:17494029 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.546-194T>C single nucleotide variant not provided [RCV001671791] Chr4:17490939 [GRCh38]
Chr4:17492562 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.106-141A>G single nucleotide variant not provided [RCV001621410] Chr4:17509504 [GRCh38]
Chr4:17511127 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.546-62A>G single nucleotide variant not provided [RCV001693847] Chr4:17490807 [GRCh38]
Chr4:17492430 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.437-299C>T single nucleotide variant not provided [RCV001714916] Chr4:17492639 [GRCh38]
Chr4:17494262 [GRCh37]
Chr4:4p15.32		 benign
NC_000004.12:g.17512537C>T single nucleotide variant not provided [RCV001653431] Chr4:17512537 [GRCh38]
Chr4:17514160 [GRCh37]
Chr4:4p15.32		 benign
NC_000004.12:g.17512519A>G single nucleotide variant not provided [RCV001618942] Chr4:17512519 [GRCh38]
Chr4:17514142 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.3GGC[6] (p.Ala7dup) microsatellite Dihydropteridine reductase deficiency [RCV001231566]|Inborn genetic diseases [RCV002563202] Chr4:17512037..17512038 [GRCh38]
Chr4:17513660..17513661 [GRCh37]
Chr4:4p15.32		 likely benign|uncertain significance
NM_000320.3(QDPR):c.296-79A>G single nucleotide variant not provided [RCV001676484] Chr4:17501938 [GRCh38]
Chr4:17503561 [GRCh37]
Chr4:4p15.32		 benign
NC_000004.12:g.17512513C>A single nucleotide variant not provided [RCV001686968] Chr4:17512513 [GRCh38]
Chr4:17514136 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.295+115T>C single nucleotide variant not provided [RCV001594543] Chr4:17504264 [GRCh38]
Chr4:17505887 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.105+74del deletion not provided [RCV001718473] Chr4:17511876 [GRCh38]
Chr4:17513499 [GRCh37]
Chr4:4p15.32		 benign
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
NM_000320.3(QDPR):c.*46C>A single nucleotide variant Dihydropteridine reductase deficiency [RCV001144501]|not provided [RCV004694893] Chr4:17487085 [GRCh38]
Chr4:17488708 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.486G>C (p.Gln162His) single nucleotide variant Dihydropteridine reductase deficiency [RCV001144502] Chr4:17492291 [GRCh38]
Chr4:17493914 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.444C>T (p.Ile148=) single nucleotide variant Dihydropteridine reductase deficiency [RCV001144503] Chr4:17492333 [GRCh38]
Chr4:17493956 [GRCh37]
Chr4:4p15.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000320.3(QDPR):c.630-91C>T single nucleotide variant not provided [RCV001710538] Chr4:17487327 [GRCh38]
Chr4:17488950 [GRCh37]
Chr4:4p15.32		 benign
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_000320.3(QDPR):c.198+187C>T single nucleotide variant not provided [RCV001615699] Chr4:17509084 [GRCh38]
Chr4:17510707 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.199-66C>T single nucleotide variant not provided [RCV001707890] Chr4:17504541 [GRCh38]
Chr4:17506164 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.359A>G (p.His120Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV001070400] Chr4:17501796 [GRCh38]
Chr4:17503419 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.630-46A>T single nucleotide variant not provided [RCV001690839] Chr4:17487282 [GRCh38]
Chr4:17488905 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.147C>T (p.Ser49=) single nucleotide variant Dihydropteridine reductase deficiency [RCV001149208] Chr4:17509322 [GRCh38]
Chr4:17510945 [GRCh37]
Chr4:4p15.32		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_000320.3(QDPR):c.*277T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV001150593] Chr4:17486854 [GRCh38]
Chr4:17488477 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.*374G>C single nucleotide variant Dihydropteridine reductase deficiency [RCV001149084] Chr4:17486757 [GRCh38]
Chr4:17488380 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.546-9C>A single nucleotide variant Dihydropteridine reductase deficiency [RCV001228512] Chr4:17490754 [GRCh38]
Chr4:17492377 [GRCh37]
Chr4:4p15.32		 likely benign|uncertain significance
NM_000320.3(QDPR):c.118G>A (p.Val40Ile) single nucleotide variant Dihydropteridine reductase deficiency [RCV001332363] Chr4:17509351 [GRCh38]
Chr4:17510974 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.437-210T>C single nucleotide variant not provided [RCV001642142] Chr4:17492550 [GRCh38]
Chr4:17494173 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.546-1G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV001332364] Chr4:17490746 [GRCh38]
Chr4:17492369 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.600C>G (p.Ser200Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV001300245]|not provided [RCV004692441] Chr4:17490691 [GRCh38]
Chr4:17492314 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.546G>A (p.Pro182=) single nucleotide variant Dihydropteridine reductase deficiency [RCV001339924] Chr4:17490745 [GRCh38]
Chr4:17492368 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.55A>T (p.Arg19Trp) single nucleotide variant Dihydropteridine reductase deficiency [RCV001306095] Chr4:17512000 [GRCh38]
Chr4:17513623 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.508G>A (p.Gly170Ser) single nucleotide variant Dihydropteridine reductase deficiency [RCV001378367] Chr4:17492269 [GRCh38]
Chr4:17493892 [GRCh37]
Chr4:4p15.32		 pathogenic|likely pathogenic
NC_000004.12:g.17512330C>G single nucleotide variant not provided [RCV001539000] Chr4:17512330 [GRCh38]
Chr4:17513953 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.437-5C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV001474781] Chr4:17492345 [GRCh38]
Chr4:17493968 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.106-1G>C single nucleotide variant Dihydropteridine reductase deficiency [RCV001378092] Chr4:17509364 [GRCh38]
Chr4:17510987 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.436+2437G>T single nucleotide variant not provided [RCV001540524] Chr4:17499282 [GRCh38]
Chr4:17500905 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.296-7C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV001431116] Chr4:17501866 [GRCh38]
Chr4:17503489 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000320.3(QDPR):c.296-62G>A single nucleotide variant not provided [RCV001645462] Chr4:17501921 [GRCh38]
Chr4:17503544 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.629+9T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV001473531] Chr4:17490653 [GRCh38]
Chr4:17492276 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.199-43G>A single nucleotide variant not provided [RCV001671571] Chr4:17504518 [GRCh38]
Chr4:17506141 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.296-69T>C single nucleotide variant not provided [RCV001652043] Chr4:17501928 [GRCh38]
Chr4:17503551 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.621C>T (p.Phe207=) single nucleotide variant Dihydropteridine reductase deficiency [RCV001460579] Chr4:17490670 [GRCh38]
Chr4:17492293 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.34C>A (p.Arg12=) single nucleotide variant Dihydropteridine reductase deficiency [RCV001437325] Chr4:17512021 [GRCh38]
Chr4:17513644 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_000320.3(QDPR):c.105+1G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV001783658] Chr4:17511949 [GRCh38]
Chr4:17513572 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.545+24T>C single nucleotide variant not provided [RCV001762869] Chr4:17492208 [GRCh38]
Chr4:17493831 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.447del (p.Tyr150fs) deletion not provided [RCV001822152] Chr4:17492330 [GRCh38]
Chr4:17493953 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.545+1G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV001885312]|not provided [RCV001822153] Chr4:17492231 [GRCh38]
Chr4:17493854 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.271G>A (p.Ala91Thr) single nucleotide variant Dihydropteridine reductase deficiency [RCV001889170] Chr4:17504403 [GRCh38]
Chr4:17506026 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.91C>T (p.Arg31Trp) single nucleotide variant Dihydropteridine reductase deficiency [RCV001864648] Chr4:17511964 [GRCh38]
Chr4:17513587 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.374A>G (p.His125Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV001927003] Chr4:17501781 [GRCh38]
Chr4:17503404 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.409G>A (p.Ala137Thr) single nucleotide variant Dihydropteridine reductase deficiency [RCV001988322]|Inborn genetic diseases [RCV004042446] Chr4:17501746 [GRCh38]
Chr4:17503369 [GRCh37]
Chr4:4p15.32		 uncertain significance
NC_000004.11:g.(?_17488754)_(17513677_?)del deletion Dihydropteridine reductase deficiency [RCV001949640] Chr4:17488754..17513677 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.647_655dup (p.Ile216_Gly218dup) duplication Dihydropteridine reductase deficiency [RCV002045008]|not specified [RCV002266038] Chr4:17487210..17487211 [GRCh38]
Chr4:17488833..17488834 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.445G>A (p.Gly149Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV002006976] Chr4:17492332 [GRCh38]
Chr4:17493955 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.496G>A (p.Gly166Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV001950309] Chr4:17492281 [GRCh38]
Chr4:17493904 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.151A>G (p.Ser51Gly) single nucleotide variant Dihydropteridine reductase deficiency [RCV002044476] Chr4:17509318 [GRCh38]
Chr4:17510941 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.265G>C (p.Gly89Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV001971190] Chr4:17504409 [GRCh38]
Chr4:17506032 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.520G>A (p.Gly174Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV002040581] Chr4:17492257 [GRCh38]
Chr4:17493880 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p15.32-15.31(chr4:16826659-17818949) copy number gain not specified [RCV002053408] Chr4:16826659..17818949 [GRCh37]
Chr4:4p15.32-15.31		 uncertain significance
NM_000320.3(QDPR):c.560C>A (p.Thr187Asn) single nucleotide variant Dihydropteridine reductase deficiency [RCV001890134] Chr4:17490731 [GRCh38]
Chr4:17492354 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.437G>C (p.Gly146Ala) single nucleotide variant Dihydropteridine reductase deficiency [RCV001983936] Chr4:17492340 [GRCh38]
Chr4:17493963 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000320.3(QDPR):c.274G>A (p.Gly92Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV001870969]|Inborn genetic diseases [RCV004040495]|not provided [RCV003312017] Chr4:17504400 [GRCh38]
Chr4:17506023 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.535G>A (p.Ala179Thr) single nucleotide variant Dihydropteridine reductase deficiency [RCV002041682] Chr4:17492242 [GRCh38]
Chr4:17493865 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.256G>A (p.Val86Ile) single nucleotide variant Dihydropteridine reductase deficiency [RCV002004957] Chr4:17504418 [GRCh38]
Chr4:17506041 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.68G>C (p.Gly23Ala) single nucleotide variant Dihydropteridine reductase deficiency [RCV001968546] Chr4:17511987 [GRCh38]
Chr4:17513610 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.689T>C (p.Val230Ala) single nucleotide variant Dihydropteridine reductase deficiency [RCV001983982] Chr4:17487177 [GRCh38]
Chr4:17488800 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.7G>A (p.Ala3Thr) single nucleotide variant Dihydropteridine reductase deficiency [RCV001889280]|Inborn genetic diseases [RCV004039116] Chr4:17512048 [GRCh38]
Chr4:17513671 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.172G>A (p.Asp58Asn) single nucleotide variant Dihydropteridine reductase deficiency [RCV002023470] Chr4:17509297 [GRCh38]
Chr4:17510920 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.152G>A (p.Ser51Asn) single nucleotide variant Dihydropteridine reductase deficiency [RCV001960282] Chr4:17509317 [GRCh38]
Chr4:17510940 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.334A>G (p.Ile112Val) single nucleotide variant Dihydropteridine reductase deficiency [RCV001996019] Chr4:17501821 [GRCh38]
Chr4:17503444 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.415G>C (p.Ala139Pro) single nucleotide variant Dihydropteridine reductase deficiency [RCV001998291] Chr4:17501740 [GRCh38]
Chr4:17503363 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.53del (p.Gly18fs) deletion Dihydropteridine reductase deficiency [RCV001943371] Chr4:17512002 [GRCh38]
Chr4:17513625 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.190G>T (p.Ala64Ser) single nucleotide variant Dihydropteridine reductase deficiency [RCV001958226] Chr4:17509279 [GRCh38]
Chr4:17510902 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.227G>A (p.Gly76Asp) single nucleotide variant Dihydropteridine reductase deficiency [RCV001961720] Chr4:17504447 [GRCh38]
Chr4:17506070 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.308A>G (p.Asn103Ser) single nucleotide variant Dihydropteridine reductase deficiency [RCV001887969]|Inborn genetic diseases [RCV004039013] Chr4:17501847 [GRCh38]
Chr4:17503470 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.3GGC[4] (p.Ala7del) microsatellite Dihydropteridine reductase deficiency [RCV001931274] Chr4:17512038..17512040 [GRCh38]
Chr4:17513661..17513663 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.578C>T (p.Ser193Leu) single nucleotide variant Dihydropteridine reductase deficiency [RCV001877641] Chr4:17490713 [GRCh38]
Chr4:17492336 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.517C>G (p.Pro173Ala) single nucleotide variant Dihydropteridine reductase deficiency [RCV001919370] Chr4:17492260 [GRCh38]
Chr4:17493883 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.504C>G (p.Asn168Lys) single nucleotide variant Dihydropteridine reductase deficiency [RCV001864812] Chr4:17492273 [GRCh38]
Chr4:17493896 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.412A>C (p.Lys138Gln) single nucleotide variant Dihydropteridine reductase deficiency [RCV001922818] Chr4:17501743 [GRCh38]
Chr4:17503366 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.311G>A (p.Cys104Tyr) single nucleotide variant Dihydropteridine reductase deficiency [RCV001990794] Chr4:17501844 [GRCh38]
Chr4:17503467 [GRCh37]
Chr4:4p15.32		 uncertain significance
NC_000004.11:g.(?_17488754)_(17513677_?)dup duplication Dihydropteridine reductase deficiency [RCV001904212] Chr4:17488754..17513677 [GRCh37]
Chr4:4p15.32		 uncertain significance
NC_000004.11:g.(?_17513553)_(17513677_?)dup duplication Dihydropteridine reductase deficiency [RCV001904213] Chr4:17513553..17513677 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.614T>G (p.Leu205Ter) single nucleotide variant Dihydropteridine reductase deficiency [RCV001975076] Chr4:17490677 [GRCh38]
Chr4:17492300 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.199-10T>G single nucleotide variant Dihydropteridine reductase deficiency [RCV002036034] Chr4:17504485 [GRCh38]
Chr4:17506108 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.644G>A (p.Trp215Ter) single nucleotide variant Dihydropteridine reductase deficiency [RCV001994705] Chr4:17487222 [GRCh38]
Chr4:17488845 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.198+1G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV001904843] Chr4:17509270 [GRCh38]
Chr4:17510893 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.331A>G (p.Ser111Gly) single nucleotide variant Dihydropteridine reductase deficiency [RCV002032225] Chr4:17501824 [GRCh38]
Chr4:17503447 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.176C>T (p.Ser59Leu) single nucleotide variant Dihydropteridine reductase deficiency [RCV002013835] Chr4:17509293 [GRCh38]
Chr4:17510916 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.35G>A (p.Arg12Gln) single nucleotide variant Dihydropteridine reductase deficiency [RCV002034275] Chr4:17512020 [GRCh38]
Chr4:17513643 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.545C>T (p.Pro182Leu) single nucleotide variant Dihydropteridine reductase deficiency [RCV001998819] Chr4:17492232 [GRCh38]
Chr4:17493855 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.425A>G (p.Asp142Gly) single nucleotide variant Dihydropteridine reductase deficiency [RCV001905890]|Inborn genetic diseases [RCV003166943] Chr4:17501730 [GRCh38]
Chr4:17503353 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.563C>T (p.Pro188Leu) single nucleotide variant Dihydropteridine reductase deficiency [RCV001898077] Chr4:17490728 [GRCh38]
Chr4:17492351 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.115A>C (p.Ser39Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV001933007] Chr4:17509354 [GRCh38]
Chr4:17510977 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.728A>G (p.Tyr243Cys) single nucleotide variant Dihydropteridine reductase deficiency [RCV001991833]|Inborn genetic diseases [RCV003170482] Chr4:17487138 [GRCh38]
Chr4:17488761 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.436+5G>C single nucleotide variant Dihydropteridine reductase deficiency [RCV001865076] Chr4:17501714 [GRCh38]
Chr4:17503337 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.153C>G (p.Ser51Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV002012777] Chr4:17509316 [GRCh38]
Chr4:17510939 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.624A>G (p.Leu208=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002090576] Chr4:17490667 [GRCh38]
Chr4:17492290 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.399C>G (p.Thr133=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002147058] Chr4:17501756 [GRCh38]
Chr4:17503379 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.630-20A>C single nucleotide variant Dihydropteridine reductase deficiency [RCV002207788] Chr4:17487256 [GRCh38]
Chr4:17488879 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.603C>T (p.Ser201=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002185674] Chr4:17490688 [GRCh38]
Chr4:17492311 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.296-18C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV002207488] Chr4:17501877 [GRCh38]
Chr4:17503500 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.79G>T (p.Val27Leu) single nucleotide variant Dihydropteridine reductase deficiency [RCV002225065] Chr4:17511976 [GRCh38]
Chr4:17513599 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.186G>A (p.Glu62=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002148524] Chr4:17509283 [GRCh38]
Chr4:17510906 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.636C>T (p.Phe212=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002125789] Chr4:17487230 [GRCh38]
Chr4:17488853 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.436+17C>G single nucleotide variant Dihydropteridine reductase deficiency [RCV002092177] Chr4:17501702 [GRCh38]
Chr4:17503325 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.36G>A (p.Arg12=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002209325] Chr4:17512019 [GRCh38]
Chr4:17513642 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.545+14G>T single nucleotide variant Dihydropteridine reductase deficiency [RCV002094026] Chr4:17492218 [GRCh38]
Chr4:17493841 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.436+16C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV002132036] Chr4:17501703 [GRCh38]
Chr4:17503326 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.507C>T (p.Ser169=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002170738] Chr4:17492270 [GRCh38]
Chr4:17493893 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.378C>A (p.Leu126=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002170329] Chr4:17501777 [GRCh38]
Chr4:17503400 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.273C>T (p.Ala91=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002174834] Chr4:17504401 [GRCh38]
Chr4:17506024 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.199-16dup duplication Dihydropteridine reductase deficiency [RCV002132019] Chr4:17504490..17504491 [GRCh38]
Chr4:17506113..17506114 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.629+17T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV002174112] Chr4:17490645 [GRCh38]
Chr4:17492268 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.106-19del deletion Dihydropteridine reductase deficiency [RCV002159450] Chr4:17509382 [GRCh38]
Chr4:17511005 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.102C>T (p.Asn34=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002220446] Chr4:17511953 [GRCh38]
Chr4:17513576 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.546-20C>G single nucleotide variant Dihydropteridine reductase deficiency [RCV002219612] Chr4:17490765 [GRCh38]
Chr4:17492388 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.436+11A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV002155317] Chr4:17501708 [GRCh38]
Chr4:17503331 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.408C>T (p.Gly136=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002119616] Chr4:17501747 [GRCh38]
Chr4:17503370 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.534C>T (p.Ile178=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002216622] Chr4:17492243 [GRCh38]
Chr4:17493866 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.630-20del deletion Dihydropteridine reductase deficiency [RCV002218595] Chr4:17487256 [GRCh38]
Chr4:17488879 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.629+18G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV002202069] Chr4:17490644 [GRCh38]
Chr4:17492267 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.516G>A (p.Pro172=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002179636]|QDPR-related disorder [RCV003978516] Chr4:17492261 [GRCh38]
Chr4:17493884 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.400T>C (p.Leu134=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002137412] Chr4:17501755 [GRCh38]
Chr4:17503378 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.545+12G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV002200737] Chr4:17492220 [GRCh38]
Chr4:17493843 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.318G>A (p.Leu106=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002102818] Chr4:17501837 [GRCh38]
Chr4:17503460 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.436+19A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV002122986]|not provided [RCV002285532] Chr4:17501700 [GRCh38]
Chr4:17503323 [GRCh37]
Chr4:4p15.32		 benign|likely benign
NM_000320.3(QDPR):c.630-15T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV002142993] Chr4:17487251 [GRCh38]
Chr4:17488874 [GRCh37]
Chr4:4p15.32		 likely benign
NC_000004.11:g.(?_17510874)_(17513677_?)del deletion Dihydropteridine reductase deficiency [RCV003111006] Chr4:17510874..17513677 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.354C>T (p.Ser118=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003112699] Chr4:17501801 [GRCh38]
Chr4:17503424 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.630-20dup duplication Dihydropteridine reductase deficiency [RCV003115079] Chr4:17487255..17487256 [GRCh38]
Chr4:17488878..17488879 [GRCh37]
Chr4:4p15.32		 benign
NM_000320.3(QDPR):c.488G>A (p.Ser163Asn) single nucleotide variant Dihydropteridine reductase deficiency [RCV002226799] Chr4:17492289 [GRCh38]
Chr4:17493912 [GRCh37]
Chr4:4p15.32		 pathogenic|likely pathogenic
NM_000320.3(QDPR):c.383_407del (p.Glu128fs) deletion Dihydropteridine reductase deficiency [RCV002226801] Chr4:17501748..17501772 [GRCh38]
Chr4:17503371..17503395 [GRCh37]
Chr4:4p15.32		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000320.3(QDPR):c.516del (p.Ala175fs) deletion Dihydropteridine reductase deficiency [RCV002281877] Chr4:17492261 [GRCh38]
Chr4:17493884 [GRCh37]
Chr4:4p15.32		 likely pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p15.32-15.2(chr4:16249194-24864955)x1 copy number loss not provided [RCV002474848] Chr4:16249194..24864955 [GRCh37]
Chr4:4p15.32-15.2		 uncertain significance
NM_000320.3(QDPR):c.106T>G (p.Trp36Gly) single nucleotide variant Dihydropteridine reductase deficiency [RCV003233063] Chr4:17509363 [GRCh38]
Chr4:17510986 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.629+11_629+12del deletion Dihydropteridine reductase deficiency [RCV002681304] Chr4:17490650..17490651 [GRCh38]
Chr4:17492273..17492274 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.642C>T (p.Asp214=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002993941] Chr4:17487224 [GRCh38]
Chr4:17488847 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.60C>A (p.Gly20=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003015631] Chr4:17511995 [GRCh38]
Chr4:17513618 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.668G>A (p.Ser223Asn) single nucleotide variant Dihydropteridine reductase deficiency [RCV002780065] Chr4:17487198 [GRCh38]
Chr4:17488821 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.278del (p.Gly93fs) deletion Dihydropteridine reductase deficiency [RCV002685617] Chr4:17504396 [GRCh38]
Chr4:17506019 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.510C>T (p.Gly170=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002775574] Chr4:17492267 [GRCh38]
Chr4:17493890 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.121G>T (p.Asp41Tyr) single nucleotide variant Dihydropteridine reductase deficiency [RCV003055805] Chr4:17509348 [GRCh38]
Chr4:17510971 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.125TGG[1] (p.Val43del) microsatellite Dihydropteridine reductase deficiency [RCV002800076] Chr4:17509339..17509341 [GRCh38]
Chr4:17510962..17510964 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.37G>A (p.Val13Met) single nucleotide variant Dihydropteridine reductase deficiency [RCV003077739] Chr4:17512018 [GRCh38]
Chr4:17513641 [GRCh37]
Chr4:4p15.32		 uncertain significance
NC_000004.11:g.(17506099_17510893)_(17513858_?)del deletion Dihydropteridine reductase deficiency [RCV002510415] Chr4:17510893..17513858 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.196C>T (p.Gln66Ter) single nucleotide variant Dihydropteridine reductase deficiency [RCV003036369] Chr4:17509273 [GRCh38]
Chr4:17510896 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.485A>G (p.Gln162Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV003020789] Chr4:17492292 [GRCh38]
Chr4:17493915 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.3GGC[7] (p.Ala7_Gly8insAlaAla) microsatellite Dihydropteridine reductase deficiency [RCV002953036] Chr4:17512037..17512038 [GRCh38]
Chr4:17513660..17513661 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.564G>A (p.Pro188=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002620326] Chr4:17490727 [GRCh38]
Chr4:17492350 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.332G>T (p.Ser111Ile) single nucleotide variant Dihydropteridine reductase deficiency [RCV003036914] Chr4:17501823 [GRCh38]
Chr4:17503446 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.67G>A (p.Gly23Ser) single nucleotide variant Dihydropteridine reductase deficiency [RCV003036207] Chr4:17511988 [GRCh38]
Chr4:17513611 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.134A>G (p.Asn45Ser) single nucleotide variant Dihydropteridine reductase deficiency [RCV002926656] Chr4:17509335 [GRCh38]
Chr4:17510958 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.163A>G (p.Lys55Glu) single nucleotide variant Dihydropteridine reductase deficiency [RCV002824168] Chr4:17509306 [GRCh38]
Chr4:17510929 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.385G>A (p.Gly129Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV002952560]|Inborn genetic diseases [RCV003348948] Chr4:17501770 [GRCh38]
Chr4:17503393 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.11C>T (p.Ala4Val) single nucleotide variant Dihydropteridine reductase deficiency [RCV002927589] Chr4:17512044 [GRCh38]
Chr4:17513667 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.70T>G (p.Ser24Ala) single nucleotide variant Dihydropteridine reductase deficiency [RCV003007902] Chr4:17511985 [GRCh38]
Chr4:17513608 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.81G>T (p.Val27=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002701544] Chr4:17511974 [GRCh38]
Chr4:17513597 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.173A>C (p.Asp58Ala) single nucleotide variant Dihydropteridine reductase deficiency [RCV002643860] Chr4:17509296 [GRCh38]
Chr4:17510919 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.295+19C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV003058165] Chr4:17504360 [GRCh38]
Chr4:17505983 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.528C>T (p.Ala176=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003084744] Chr4:17492249 [GRCh38]
Chr4:17493872 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.351C>T (p.Ile117=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002932563] Chr4:17501804 [GRCh38]
Chr4:17503427 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.312T>C (p.Cys104=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002700831] Chr4:17501843 [GRCh38]
Chr4:17503466 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.51C>A (p.Gly17=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002918741] Chr4:17512004 [GRCh38]
Chr4:17513627 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.580A>G (p.Met194Val) single nucleotide variant Dihydropteridine reductase deficiency [RCV002914854] Chr4:17490711 [GRCh38]
Chr4:17492334 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.717C>T (p.Leu239=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002642597] Chr4:17487149 [GRCh38]
Chr4:17488772 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.474C>T (p.His158=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002917744] Chr4:17492303 [GRCh38]
Chr4:17493926 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.198+15G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV002643686] Chr4:17509256 [GRCh38]
Chr4:17510879 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.132G>A (p.Glu44=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002581838] Chr4:17509337 [GRCh38]
Chr4:17510960 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.264A>C (p.Gly88=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002632607] Chr4:17504410 [GRCh38]
Chr4:17506033 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.60C>T (p.Gly20=) single nucleotide variant Dihydropteridine reductase deficiency [RCV002716002] Chr4:17511995 [GRCh38]
Chr4:17513618 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.437-15C>G single nucleotide variant Dihydropteridine reductase deficiency [RCV002600444] Chr4:17492355 [GRCh38]
Chr4:17493978 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.105+13G>T single nucleotide variant Dihydropteridine reductase deficiency [RCV002577827] Chr4:17511937 [GRCh38]
Chr4:17513560 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.24C>T (p.Gly8=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003090456] Chr4:17512031 [GRCh38]
Chr4:17513654 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.240G>A (p.Val80=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003061905] Chr4:17504434 [GRCh38]
Chr4:17506057 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.105+10C>G single nucleotide variant Dihydropteridine reductase deficiency [RCV002646338] Chr4:17511940 [GRCh38]
Chr4:17513563 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.556G>C (p.Asp186His) single nucleotide variant Dihydropteridine reductase deficiency [RCV003065086] Chr4:17490735 [GRCh38]
Chr4:17492358 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.546-7A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV002580836] Chr4:17490752 [GRCh38]
Chr4:17492375 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.5C>T (p.Ala2Val) single nucleotide variant Dihydropteridine reductase deficiency [RCV003093380] Chr4:17512050 [GRCh38]
Chr4:17513673 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.545+19C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV002611355] Chr4:17492213 [GRCh38]
Chr4:17493836 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14		 pathogenic
NM_000320.3(QDPR):c.419C>A (p.Ala140Asp) single nucleotide variant Dihydropteridine reductase deficiency [RCV003154313] Chr4:17501736 [GRCh38]
Chr4:17503359 [GRCh37]
Chr4:4p15.32		 likely pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
NM_000320.3(QDPR):c.545C>G (p.Pro182Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV003340851] Chr4:17492232 [GRCh38]
Chr4:17493855 [GRCh37]
Chr4:4p15.32		 likely pathogenic
GRCh37/hg19 4p15.32-15.31(chr4:17488754-17974508)x3 copy number gain not provided [RCV003334270] Chr4:17488754..17974508 [GRCh37]
Chr4:4p15.32-15.31		 uncertain significance
NM_000320.3(QDPR):c.463G>A (p.Gly155Ser) single nucleotide variant Inborn genetic diseases [RCV003367678] Chr4:17492314 [GRCh38]
Chr4:17493937 [GRCh37]
Chr4:4p15.32		 uncertain significance
GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1 copy number loss not provided [RCV003485415] Chr4:12238766..23083496 [GRCh37]
Chr4:4p15.33-15.2		 likely pathogenic
NM_000320.3(QDPR):c.437-18C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV003825657] Chr4:17492358 [GRCh38]
Chr4:17493981 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.261T>C (p.Ala87=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003852872] Chr4:17504413 [GRCh38]
Chr4:17506036 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.482G>T (p.Cys161Phe) single nucleotide variant Dihydropteridine reductase deficiency [RCV003826296] Chr4:17492295 [GRCh38]
Chr4:17493918 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.432T>C (p.Thr144=) single nucleotide variant not provided [RCV003434983] Chr4:17501723 [GRCh38]
Chr4:17503346 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.105+2T>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003598172]|QDPR-related disorder [RCV003414521] Chr4:17511948 [GRCh38]
Chr4:17513571 [GRCh37]
Chr4:4p15.32		 pathogenic|likely pathogenic
NM_000320.3(QDPR):c.198+18C>G single nucleotide variant Dihydropteridine reductase deficiency [RCV003598871] Chr4:17509253 [GRCh38]
Chr4:17510876 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.630-23_630-20del deletion Dihydropteridine reductase deficiency [RCV003598903] Chr4:17487256..17487259 [GRCh38]
Chr4:17488879..17488882 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.576del (p.Lys192fs) deletion Dihydropteridine reductase deficiency [RCV003495886] Chr4:17490715 [GRCh38]
Chr4:17492338 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.309C>T (p.Asn103=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598938] Chr4:17501846 [GRCh38]
Chr4:17503469 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.576A>G (p.Lys192=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003597660] Chr4:17490715 [GRCh38]
Chr4:17492338 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.198+19C>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003599108] Chr4:17509252 [GRCh38]
Chr4:17510875 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.296-17A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV003597919] Chr4:17501876 [GRCh38]
Chr4:17503499 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.504C>T (p.Asn168=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003597906] Chr4:17492273 [GRCh38]
Chr4:17493896 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.144C>T (p.Ala48=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598200] Chr4:17509325 [GRCh38]
Chr4:17510948 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.189G>A (p.Gln63=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598208] Chr4:17509280 [GRCh38]
Chr4:17510903 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.105G>C (p.Trp35Cys) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598231] Chr4:17511950 [GRCh38]
Chr4:17513573 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.468T>C (p.Ala156=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003599398] Chr4:17492309 [GRCh38]
Chr4:17493932 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.390C>A (p.Gly130=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598277] Chr4:17501765 [GRCh38]
Chr4:17503388 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.546-11G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003599650] Chr4:17490756 [GRCh38]
Chr4:17492379 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.90T>C (p.Phe30=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003495652] Chr4:17511965 [GRCh38]
Chr4:17513588 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.437-5C>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003495700] Chr4:17492345 [GRCh38]
Chr4:17493968 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.105+15T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV003495682] Chr4:17511935 [GRCh38]
Chr4:17513558 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.720C>A (p.Thr240=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003494906] Chr4:17487146 [GRCh38]
Chr4:17488769 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.198+13A>T single nucleotide variant Dihydropteridine reductase deficiency [RCV003495751] Chr4:17509258 [GRCh38]
Chr4:17510881 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.106-6T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV003599809] Chr4:17509369 [GRCh38]
Chr4:17510992 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.437-10C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV003494981] Chr4:17492350 [GRCh38]
Chr4:17493973 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.219G>A (p.Lys73=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598269] Chr4:17504455 [GRCh38]
Chr4:17506078 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.545+9T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV003598273] Chr4:17492223 [GRCh38]
Chr4:17493846 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.285C>G (p.Ala95=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598274] Chr4:17504389 [GRCh38]
Chr4:17506012 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.24C>G (p.Gly8=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598318] Chr4:17512031 [GRCh38]
Chr4:17513654 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.519C>G (p.Pro173=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598320] Chr4:17492258 [GRCh38]
Chr4:17493881 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.199-7G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003495061] Chr4:17504482 [GRCh38]
Chr4:17506105 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.639T>C (p.His213=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003599708] Chr4:17487227 [GRCh38]
Chr4:17488850 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.296-14T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV003599223] Chr4:17501873 [GRCh38]
Chr4:17503496 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.629+16A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV003597739] Chr4:17490646 [GRCh38]
Chr4:17492269 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.437-9A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV003597759] Chr4:17492349 [GRCh38]
Chr4:17493972 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.609dup (p.Pro204fs) duplication Dihydropteridine reductase deficiency [RCV003494651] Chr4:17490681..17490682 [GRCh38]
Chr4:17492304..17492305 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.328C>T (p.Gln110Ter) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598662] Chr4:17501827 [GRCh38]
Chr4:17503450 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.681A>C (p.Leu227=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003496640] Chr4:17487185 [GRCh38]
Chr4:17488808 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.45G>A (p.Val15=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598704] Chr4:17512010 [GRCh38]
Chr4:17513633 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.345G>T (p.Ser115=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003597917] Chr4:17501810 [GRCh38]
Chr4:17503433 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.531C>T (p.Ala177=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003597588] Chr4:17492246 [GRCh38]
Chr4:17493869 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.36G>C (p.Arg12=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003599735] Chr4:17512019 [GRCh38]
Chr4:17513642 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.210G>A (p.Glu70=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003597668] Chr4:17504464 [GRCh38]
Chr4:17506087 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.199-15G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003597674] Chr4:17504490 [GRCh38]
Chr4:17506113 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.618A>G (p.Glu206=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003597777] Chr4:17490673 [GRCh38]
Chr4:17492296 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.445G>C (p.Gly149Arg) single nucleotide variant Dihydropteridine reductase deficiency [RCV003495482] Chr4:17492332 [GRCh38]
Chr4:17493955 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.6G>A (p.Ala2=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003496150] Chr4:17512049 [GRCh38]
Chr4:17513672 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.635T>C (p.Phe212Ser) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598183] Chr4:17487231 [GRCh38]
Chr4:17488854 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.630-4C>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003598268] Chr4:17487240 [GRCh38]
Chr4:17488863 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.437-10C>G single nucleotide variant Dihydropteridine reductase deficiency [RCV003598340] Chr4:17492350 [GRCh38]
Chr4:17493973 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.106-12T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV003598346] Chr4:17509375 [GRCh38]
Chr4:17510998 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.42G>A (p.Leu14=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003496778] Chr4:17512013 [GRCh38]
Chr4:17513636 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.177G>A (p.Ser59=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003826029] Chr4:17509292 [GRCh38]
Chr4:17510915 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.105+11G>C single nucleotide variant Dihydropteridine reductase deficiency [RCV003598852] Chr4:17511939 [GRCh38]
Chr4:17513562 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.523del (p.Ala175fs) deletion Dihydropteridine reductase deficiency [RCV003495729] Chr4:17492254 [GRCh38]
Chr4:17493877 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.629+2T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV003598941] Chr4:17490660 [GRCh38]
Chr4:17492283 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.630-14A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV003599648] Chr4:17487250 [GRCh38]
Chr4:17488873 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.558T>C (p.Asp186=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003599667] Chr4:17490733 [GRCh38]
Chr4:17492356 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.531C>A (p.Ala177=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003495782] Chr4:17492246 [GRCh38]
Chr4:17493869 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.201G>C (p.Val67=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003495928] Chr4:17504473 [GRCh38]
Chr4:17506096 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.106-8C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV003598332] Chr4:17509371 [GRCh38]
Chr4:17510994 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.75A>C (p.Arg25=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003496445] Chr4:17511980 [GRCh38]
Chr4:17513603 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.630-19C>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003597812] Chr4:17487255 [GRCh38]
Chr4:17488878 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.561C>T (p.Thr187=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003597817] Chr4:17490730 [GRCh38]
Chr4:17492353 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.393C>T (p.Leu131=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598926] Chr4:17501762 [GRCh38]
Chr4:17503385 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.117C>T (p.Ser39=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003876890] Chr4:17509352 [GRCh38]
Chr4:17510975 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.92G>C (p.Arg31Pro) single nucleotide variant Dihydropteridine reductase deficiency [RCV003495925] Chr4:17511963 [GRCh38]
Chr4:17513586 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.545+14G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003598963] Chr4:17492218 [GRCh38]
Chr4:17493841 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.40C>T (p.Leu14=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003599433] Chr4:17512015 [GRCh38]
Chr4:17513638 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.279C>T (p.Gly93=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003496102] Chr4:17504395 [GRCh38]
Chr4:17506018 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.348C>T (p.Thr116=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003597509] Chr4:17501807 [GRCh38]
Chr4:17503430 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.192T>C (p.Ala64=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003496662] Chr4:17509277 [GRCh38]
Chr4:17510900 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.327G>A (p.Lys109=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003597535] Chr4:17501828 [GRCh38]
Chr4:17503451 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.437-11C>G single nucleotide variant Dihydropteridine reductase deficiency [RCV003496697] Chr4:17492351 [GRCh38]
Chr4:17493974 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.711G>A (p.Thr237=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598556] Chr4:17487155 [GRCh38]
Chr4:17488778 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.666G>A (p.Pro222=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003598560] Chr4:17487200 [GRCh38]
Chr4:17488823 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.201G>T (p.Val67=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003599285] Chr4:17504473 [GRCh38]
Chr4:17506096 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.198+17C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV003599289] Chr4:17509254 [GRCh38]
Chr4:17510877 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.515C>T (p.Pro172Leu) single nucleotide variant Dihydropteridine reductase deficiency [RCV003494652] Chr4:17492262 [GRCh38]
Chr4:17493885 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.105+13G>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003599143] Chr4:17511937 [GRCh38]
Chr4:17513560 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.361C>T (p.Leu121=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003599328] Chr4:17501794 [GRCh38]
Chr4:17503417 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.246A>C (p.Ala82=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003496328] Chr4:17504428 [GRCh38]
Chr4:17506051 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.420C>G (p.Ala140=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003881470] Chr4:17501735 [GRCh38]
Chr4:17503358 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.553C>T (p.Leu185=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003599327] Chr4:17490738 [GRCh38]
Chr4:17492361 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.21A>C (p.Ala7=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003496362] Chr4:17512034 [GRCh38]
Chr4:17513657 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.516G>T (p.Pro172=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003597681] Chr4:17492261 [GRCh38]
Chr4:17493884 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.105+16G>C single nucleotide variant Dihydropteridine reductase deficiency [RCV003599181] Chr4:17511934 [GRCh38]
Chr4:17513557 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.612C>T (p.Pro204=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003599372] Chr4:17490679 [GRCh38]
Chr4:17492302 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.105+20C>G single nucleotide variant Dihydropteridine reductase deficiency [RCV003495681] Chr4:17511930 [GRCh38]
Chr4:17513553 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.545+8C>G single nucleotide variant Dihydropteridine reductase deficiency [RCV003497208] Chr4:17492224 [GRCh38]
Chr4:17493847 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.54C>A (p.Gly18=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003497234] Chr4:17512001 [GRCh38]
Chr4:17513624 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.437-20A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV003837445] Chr4:17492360 [GRCh38]
Chr4:17493983 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.105+14C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV003497070] Chr4:17511936 [GRCh38]
Chr4:17513559 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.545+18C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV003813959] Chr4:17492214 [GRCh38]
Chr4:17493837 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.106-20A>C single nucleotide variant Dihydropteridine reductase deficiency [RCV003837621] Chr4:17509383 [GRCh38]
Chr4:17511006 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.41T>C (p.Leu14Pro) single nucleotide variant Dihydropteridine reductase deficiency [RCV003496974] Chr4:17512014 [GRCh38]
Chr4:17513637 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.630-20A>T single nucleotide variant Dihydropteridine reductase deficiency [RCV003851467] Chr4:17487256 [GRCh38]
Chr4:17488879 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.199-18T>A single nucleotide variant Dihydropteridine reductase deficiency [RCV003865007] Chr4:17504493 [GRCh38]
Chr4:17506116 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.12G>A (p.Ala4=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003840932] Chr4:17512043 [GRCh38]
Chr4:17513666 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.204T>C (p.Thr68=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003857720] Chr4:17504470 [GRCh38]
Chr4:17506093 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000320.3(QDPR):c.123T>C (p.Asp41=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003869138] Chr4:17509346 [GRCh38]
Chr4:17510969 [GRCh37]
Chr4:4p15.32		 likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_000320.3(QDPR):c.18T>G (p.Ala6=) single nucleotide variant Dihydropteridine reductase deficiency [RCV003842635] Chr4:17512037 [GRCh38]
Chr4:17513660 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.436+19A>C single nucleotide variant Dihydropteridine reductase deficiency [RCV003859171] Chr4:17501700 [GRCh38]
Chr4:17503323 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.410_421dup (p.Ala140_Leu141insProLysAlaAla) duplication Dihydropteridine reductase deficiency [RCV003993572] Chr4:17501733..17501734 [GRCh38]
Chr4:17503356..17503357 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.344C>G (p.Ser115Trp) single nucleotide variant Dihydropteridine reductase deficiency [RCV003991924] Chr4:17501811 [GRCh38]
Chr4:17503434 [GRCh37]
Chr4:4p15.32		 pathogenic
NM_000320.3(QDPR):c.658A>C (p.Asn220His) single nucleotide variant Inborn genetic diseases [RCV004440719] Chr4:17487208 [GRCh38]
Chr4:17488831 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.49G>A (p.Gly17Ser) single nucleotide variant Dihydropteridine reductase deficiency [RCV003985160] Chr4:17512006 [GRCh38]
Chr4:17513629 [GRCh37]
Chr4:4p15.32		 likely pathogenic
NM_000320.3(QDPR):c.*6A>G single nucleotide variant QDPR-related disorder [RCV003934142] Chr4:17487125 [GRCh38]
Chr4:17488748 [GRCh37]
Chr4:4p15.32		 likely benign
NM_000320.3(QDPR):c.254G>C (p.Cys85Ser) single nucleotide variant Inborn genetic diseases [RCV004669343] Chr4:17504420 [GRCh38]
Chr4:17506043 [GRCh37]
Chr4:4p15.32		 uncertain significance
NM_000320.3(QDPR):c.451G>A (p.Gly151Ser) single nucleotide variant Dihydropteridine reductase deficiency [RCV004586143] Chr4:17492326 [GRCh38]
Chr4:17493949 [GRCh37]
Chr4:4p15.32		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2465
Count of miRNA genes:895
Interacting mature miRNAs:1034
Transcripts:ENST00000281243, ENST00000428702, ENST00000501943, ENST00000505710, ENST00000507439, ENST00000508623, ENST00000511609, ENST00000513615, ENST00000514300
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597430542GWAS1526616_Hprotein measurement QTL GWAS1526616 (human)3e-33protein measurement41750221617502217Human
596968390GWAS1087909_Hcortical thickness QTL GWAS1087909 (human)2e-08cortical thickness41750950417509505Human
597396946GWAS1493020_Hcortical thickness QTL GWAS1493020 (human)2e-08cortical thickness41750950417509505Human

Markers in Region
G62087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37417,488,079 - 17,488,203UniSTSGRCh37
Build 36417,097,177 - 17,097,301RGDNCBI36
Celera417,953,068 - 17,953,192RGD
Cytogenetic Map4p15.31UniSTS
HuRef416,842,746 - 16,842,870UniSTS
GDB:181534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37417,488,419 - 17,488,716UniSTSGRCh37
Build 36417,097,517 - 17,097,814RGDNCBI36
Celera417,953,408 - 17,953,705RGD
Cytogenetic Map4p15.31UniSTS
HuRef416,843,086 - 16,843,383UniSTS
SHGC-145965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37417,491,914 - 17,492,211UniSTSGRCh37
Build 36417,101,012 - 17,101,309RGDNCBI36
Celera417,956,903 - 17,957,200RGD
Cytogenetic Map4p15.31UniSTS
HuRef416,846,581 - 16,846,878UniSTS
TNG Radiation Hybrid Map411608.0UniSTS
SHGC-59578  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37417,488,070 - 17,488,223UniSTSGRCh37
Build 36417,097,168 - 17,097,321RGDNCBI36
Celera417,953,059 - 17,953,212RGD
Cytogenetic Map4p15.31UniSTS
HuRef416,842,737 - 16,842,890UniSTS
TNG Radiation Hybrid Map411616.0UniSTS
GeneMap99-GB4 RH Map473.05UniSTS
NCBI RH Map4154.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2350 6 624 1949 465 2269 7304 6470 53 3734 1 852 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_156494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB053170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW104747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM760507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM762805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD514662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000281243   ⟹   ENSP00000281243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl417,486,395 - 17,512,090 (-)Ensembl
Ensembl Acc Id: ENST00000428702   ⟹   ENSP00000390944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl417,486,527 - 17,512,086 (-)Ensembl
Ensembl Acc Id: ENST00000501943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl417,486,800 - 17,492,513 (-)Ensembl
Ensembl Acc Id: ENST00000505710   ⟹   ENSP00000420873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl417,490,041 - 17,511,981 (-)Ensembl
Ensembl Acc Id: ENST00000507439   ⟹   ENSP00000423227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl417,486,398 - 17,512,069 (-)Ensembl
Ensembl Acc Id: ENST00000508623   ⟹   ENSP00000426377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl417,487,105 - 17,512,087 (-)Ensembl
Ensembl Acc Id: ENST00000511609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl417,490,439 - 17,492,508 (-)Ensembl
Ensembl Acc Id: ENST00000513615   ⟹   ENSP00000422759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl417,460,261 - 17,512,089 (-)Ensembl
Ensembl Acc Id: ENST00000514300   ⟹   ENSP00000426039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl417,487,170 - 17,512,206 (-)Ensembl
Ensembl Acc Id: ENST00000706645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl417,486,398 - 17,510,515 (-)Ensembl
RefSeq Acc Id: NM_000320   ⟹   NP_000311
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38417,486,395 - 17,512,090 (-)NCBI
GRCh37417,488,016 - 17,513,857 (-)ENTREZGENE
Build 36417,097,121 - 17,154,822 (-)NCBI Archive
HuRef416,842,683 - 16,868,527 (-)ENTREZGENE
CHM1_1417,485,950 - 17,511,774 (-)NCBI
T2T-CHM13v2.0417,468,141 - 17,493,839 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001306140   ⟹   NP_001293069
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38417,486,395 - 17,512,090 (-)NCBI
CHM1_1417,485,950 - 17,511,774 (-)NCBI
T2T-CHM13v2.0417,468,141 - 17,493,839 (-)NCBI
Sequence:
RefSeq Acc Id: NR_156494
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38417,486,395 - 17,512,090 (-)NCBI
T2T-CHM13v2.0417,468,141 - 17,493,839 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000311   ⟸   NM_000320
- Peptide Label: isoform 1
- UniProtKB: P09417 (UniProtKB/Swiss-Prot),   Q53F52 (UniProtKB/Swiss-Prot),   B3KW71 (UniProtKB/Swiss-Prot),   A8K158 (UniProtKB/Swiss-Prot),   Q9H3M5 (UniProtKB/Swiss-Prot),   A0A140VKA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293069   ⟸   NM_001306140
- Peptide Label: isoform 2
- UniProtKB: P09417 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000420873   ⟸   ENST00000505710
Ensembl Acc Id: ENSP00000281243   ⟸   ENST00000281243
Ensembl Acc Id: ENSP00000390944   ⟸   ENST00000428702
Ensembl Acc Id: ENSP00000423227   ⟸   ENST00000507439
Ensembl Acc Id: ENSP00000426377   ⟸   ENST00000508623
Ensembl Acc Id: ENSP00000422759   ⟸   ENST00000513615
Ensembl Acc Id: ENSP00000426039   ⟸   ENST00000514300

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P09417-F1-model_v2 AlphaFold P09417 1-244 view protein structure

Promoters
RGD ID:6853290
Promoter ID:EP74467
Type:initiation region
Name:HS_QDPR
Description:Quinoid dihydropteridine reductase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36417,122,299 - 17,122,359EPD
RGD ID:6802545
Promoter ID:HG_KWN:47935
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000320,   UC003GPE.1,   UC003GPF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36417,122,689 - 17,123,189 (-)MPROMDB
RGD ID:6867092
Promoter ID:EPDNEW_H6711
Type:initiation region
Name:QDPR_2
Description:quinoid dihydropteridine reductase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6712  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38417,511,578 - 17,511,638EPDNEW
RGD ID:6867094
Promoter ID:EPDNEW_H6712
Type:initiation region
Name:QDPR_1
Description:quinoid dihydropteridine reductase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6711  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38417,512,090 - 17,512,150EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9752 AgrOrtholog
COSMIC QDPR COSMIC
Ensembl Genes ENSG00000151552 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000281243 ENTREZGENE
  ENST00000281243.10 UniProtKB/Swiss-Prot
  ENST00000428702 ENTREZGENE
  ENST00000428702.6 UniProtKB/Swiss-Prot
  ENST00000505710.1 UniProtKB/TrEMBL
  ENST00000507439 ENTREZGENE
  ENST00000507439.5 UniProtKB/TrEMBL
  ENST00000508623.5 UniProtKB/TrEMBL
  ENST00000513615.5 UniProtKB/TrEMBL
  ENST00000514300.1 UniProtKB/TrEMBL
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000151552 GTEx
HGNC ID HGNC:9752 ENTREZGENE
Human Proteome Map QDPR Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sc_DH/Rdtase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5860 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5860 ENTREZGENE
OMIM 612676 OMIM
PANTHER DIHYDROPTERIDINE REDUCTASE UniProtKB/Swiss-Prot
  DIHYDROPTERIDINE REDUCTASE UniProtKB/Swiss-Prot
  DIHYDROPTERIDINE REDUCTASE UniProtKB/TrEMBL
  DIHYDROPTERIDINE REDUCTASE UniProtKB/TrEMBL
Pfam adh_short UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34094 PharmGKB
PROSITE ADH_SHORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VKA9 ENTREZGENE, UniProtKB/TrEMBL
  A8K158 ENTREZGENE
  B3KW71 ENTREZGENE
  B7Z415_HUMAN UniProtKB/TrEMBL
  D6RGG7_HUMAN UniProtKB/TrEMBL
  D6RHJ7_HUMAN UniProtKB/TrEMBL
  DHPR_HUMAN UniProtKB/Swiss-Prot
  H0Y8F7_HUMAN UniProtKB/TrEMBL
  P09417 ENTREZGENE
  Q53F52 ENTREZGENE
  Q9H3M5 ENTREZGENE
UniProt Secondary A8K158 UniProtKB/Swiss-Prot
  B3KW71 UniProtKB/Swiss-Prot
  Q53F52 UniProtKB/Swiss-Prot
  Q9H3M5 UniProtKB/Swiss-Prot