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
Description: Predicted to enable 6,7-dihydropteridine reductase activity; NADH binding activity; and NADPH binding activity. Predicted to be involved in L-phenylalanine catabolic process and tetrahydrobiopterin biosynthetic process. Located in cytoplasm. Implicated in phenylketonuria.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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 Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl417,460,261 - 17,512,206 (-)EnsemblGRCh38hg38GRCh38
GRCh38417,486,395 - 17,512,090 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37417,488,018 - 17,513,713 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36417,097,121 - 17,154,822 (-)NCBINCBI36hg18NCBI36
Build 34417,164,291 - 17,189,982NCBI
Celera417,953,005 - 17,978,851 (-)NCBI
Cytogenetic Map4p15.32NCBI
HuRef416,842,683 - 16,868,527 (-)NCBIHuRef
CHM1_1417,485,950 - 17,511,774 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

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:33961781  


Genomics

Comparative Map Data
QDPR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl417,460,261 - 17,512,206 (-)EnsemblGRCh38hg38GRCh38
GRCh38417,486,395 - 17,512,090 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37417,488,018 - 17,513,713 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36417,097,121 - 17,154,822 (-)NCBINCBI36hg18NCBI36
Build 34417,164,291 - 17,189,982NCBI
Celera417,953,005 - 17,978,851 (-)NCBI
Cytogenetic Map4p15.32NCBI
HuRef416,842,683 - 16,868,527 (-)NCBIHuRef
CHM1_1417,485,950 - 17,511,774 (-)NCBICHM1_1
Qdpr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39545,591,374 - 45,607,571 (-)NCBIGRCm39mm39
GRCm39 Ensembl545,591,363 - 45,607,578 (-)Ensembl
GRCm38545,434,032 - 45,450,229 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl545,434,021 - 45,450,236 (-)EnsemblGRCm38mm10GRCm38
MGSCv37545,825,271 - 45,841,468 (-)NCBIGRCm37mm9NCBIm37
MGSCv36545,722,303 - 45,738,405 (-)NCBImm8
Celera542,859,912 - 42,876,126 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map524.9NCBI
Qdpr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21465,670,251 - 65,683,853 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1465,670,131 - 65,683,854 (+)Ensembl
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 (+)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.1417,199,772 - 17,225,667 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl417,199,772 - 17,225,667 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0411,906,439 - 11,932,311 (-)NCBIMhudiblu_PPA_v0panPan3
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 (+)NCBI
ROS_Cfam_1.0363,445,733 - 63,462,419 (+)NCBI
UMICH_Zoey_3.1362,936,851 - 62,953,518 (+)NCBI
UNSW_CanFamBas_1.0363,140,819 - 63,157,481 (+)NCBI
UU_Cfam_GSD_1.0363,500,293 - 63,516,958 (+)NCBI
Qdpr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528556,985,664 - 57,006,322 (+)NCBI
SpeTri2.0NW_00493647710,687,328 - 10,708,015 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
QDPR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl812,335,252 - 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 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2732,697,599 - 32,723,016 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604779,429,420 - 79,455,598 (+)NCBIVero_WHO_p1.0
Qdpr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475514,333,308 - 14,353,949 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
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

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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 19
Medium 2206 1986 1705 618 1020 463 4187 1926 3706 405 1382 1539 168 1183 2683 3 1
Low 233 996 21 6 916 2 169 270 9 14 78 72 7 1 21 105 3 1
Below cutoff 9 13 1 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
  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

Reference Sequences
RefSeq Acc Id: ENST00000281243   ⟹   ENSP00000281243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl417,486,395 - 17,512,090 (-)Ensembl
RefSeq Acc Id: ENST00000428702   ⟹   ENSP00000390944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl417,486,527 - 17,512,086 (-)Ensembl
RefSeq Acc Id: ENST00000501943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl417,486,800 - 17,492,513 (-)Ensembl
RefSeq Acc Id: ENST00000505710   ⟹   ENSP00000420873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl417,490,041 - 17,511,981 (-)Ensembl
RefSeq Acc Id: ENST00000507439   ⟹   ENSP00000423227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl417,486,398 - 17,512,069 (-)Ensembl
RefSeq Acc Id: ENST00000508623   ⟹   ENSP00000426377
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl417,487,105 - 17,512,087 (-)Ensembl
RefSeq Acc Id: ENST00000511609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl417,490,439 - 17,492,508 (-)Ensembl
RefSeq Acc Id: ENST00000513615   ⟹   ENSP00000422759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl417,460,261 - 17,512,089 (-)Ensembl
RefSeq Acc Id: ENST00000514300   ⟹   ENSP00000426039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl417,487,170 - 17,512,206 (-)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
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
Sequence:
RefSeq Acc Id: NR_156494
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38417,486,395 - 17,512,090 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_000311   ⟸   NM_000320
- Peptide Label: isoform 1
- UniProtKB: P09417 (UniProtKB/Swiss-Prot),   A0A140VKA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293069   ⟸   NM_001306140
- Peptide Label: isoform 2
- UniProtKB: P09417 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000420873   ⟸   ENST00000505710
RefSeq Acc Id: ENSP00000281243   ⟸   ENST00000281243
RefSeq Acc Id: ENSP00000390944   ⟸   ENST00000428702
RefSeq Acc Id: ENSP00000423227   ⟸   ENST00000507439
RefSeq Acc Id: ENSP00000426377   ⟸   ENST00000508623
RefSeq Acc Id: ENSP00000422759   ⟸   ENST00000513615
RefSeq Acc Id: ENSP00000426039   ⟸   ENST00000514300

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

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
QDPR, IVS3, A-G, 152-BP INS insertion Dihydropteridine reductase deficiency [RCV000000522] Chr4:4p15.31 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] Chr4:17511987 [GRCh38]
Chr4:17513610 [GRCh37]
Chr4:4p15.32
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
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 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_000371.3(TTR):c.372C>G (p.Arg124=) 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 See cases [RCV000449078] 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_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) deletion BH4-Deficient Hyperphenylalaninemia [RCV000272562]|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] 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
uncertain significance
NM_000320.3(QDPR):c.*408C>T single nucleotide variant Dihydropteridine reductase deficiency [RCV000317800] Chr4:17486723 [GRCh38]
Chr4:17488346 [GRCh37]
Chr4:4p15.32
benign
NM_000320.3(QDPR):c.*468A>C single nucleotide variant Dihydropteridine reductase deficiency [RCV000357320] 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] Chr4:17492261 [GRCh38]
Chr4:17493884 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp) single nucleotide variant Dihydropteridine reductase deficiency [RCV000946220] Chr4:17490703 [GRCh38]
Chr4:17492326 [GRCh37]
Chr4:4p15.32
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000320.3(QDPR):c.*622T>C single nucleotide variant Dihydropteridine reductase deficiency [RCV000360834] Chr4:17486509 [GRCh38]
Chr4:17488132 [GRCh37]
Chr4:4p15.32
benign
NM_139279.6(MCFD2):c.249del (p.Asp83fs) 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] 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_139279.6(MCFD2):c.249del (p.Asp83fs) 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_172107.4(KCNQ2):c.2049C>T (p.His683=) 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_001848.3(COL6A1):c.615G>A (p.Thr205=) single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000331176]|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] Chr4:17486728 [GRCh38]
Chr4:17488351 [GRCh37]
Chr4:4p15.32
benign
NM_000320.3(QDPR):c.*690A>G single nucleotide variant Dihydropteridine reductase deficiency [RCV000396492] Chr4:17486441 [GRCh38]
Chr4:17488064 [GRCh37]
Chr4:4p15.32
benign
NM_000320.3(QDPR):c.29C>T (p.Ala10Val) single nucleotide variant 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 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
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_001306140.1(QDPR):c.-111G>C single nucleotide variant BH4-Deficient Hyperphenylalaninemia [RCV000382276] Chr4:17512165 [GRCh38]
Chr4:17513788 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001306140.1(QDPR):c.-75del 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 Abnormality of 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] 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] 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
null 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
null 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
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 Dihydropteridine reductase deficiency [RCV000987429] Chr4:17501734 [GRCh38]
Chr4:17503357 [GRCh37]
Chr4:4p15.32
pathogenic
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) single nucleotide variant not provided [RCV001641489] Chr4:17511835 [GRCh38]
Chr4:17513458 [GRCh37]
Chr4:4p15.32
benign
null single nucleotide variant not provided [RCV001665223] Chr4:17490522 [GRCh38]
Chr4:17492145 [GRCh37]
Chr4:4p15.32
benign
null single nucleotide variant not provided [RCV001668035] Chr4:17504484 [GRCh38]
Chr4:17506107 [GRCh37]
Chr4:4p15.32
benign
null 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 not provided [RCV000922041] Chr4:17512037 [GRCh38]
Chr4:17513660 [GRCh37]
Chr4:4p15.32
likely benign
NM_000320.3(QDPR):c.519C>T (p.Pro173=) single nucleotide variant not provided [RCV000917952] Chr4:17492258 [GRCh38]
Chr4:17493881 [GRCh37]
Chr4:4p15.32
likely benign
Single allele 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
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_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001688181] Chr4:17509619 [GRCh38]
Chr4:17511242 [GRCh37]
Chr4:4p15.32
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001608325] Chr4:17501923 [GRCh38]
Chr4:17503546 [GRCh37]
Chr4:4p15.32
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001679396] Chr4:17492406 [GRCh38]
Chr4:17494029 [GRCh37]
Chr4:4p15.32
benign
null single nucleotide variant not provided [RCV001671791] Chr4:17490939 [GRCh38]
Chr4:17492562 [GRCh37]
Chr4:4p15.32
benign
null single nucleotide variant not provided [RCV001621410] Chr4:17509504 [GRCh38]
Chr4:17511127 [GRCh37]
Chr4:4p15.32
benign
null single nucleotide variant not provided [RCV001693847] Chr4:17490807 [GRCh38]
Chr4:17492430 [GRCh37]
Chr4:4p15.32
benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001714916] Chr4:17492639 [GRCh38]
Chr4:17494262 [GRCh37]
Chr4:4p15.32
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001653431] Chr4:17512537 [GRCh38]
Chr4:17514160 [GRCh37]
Chr4:4p15.32
benign
null 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] Chr4:17512037..17512038 [GRCh38]
Chr4:17513660..17513661 [GRCh37]
Chr4:4p15.32
uncertain significance
null single nucleotide variant not provided [RCV001676484] Chr4:17501938 [GRCh38]
Chr4:17503561 [GRCh37]
Chr4:4p15.32
benign
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001686968] Chr4:17512513 [GRCh38]
Chr4:17514136 [GRCh37]
Chr4:4p15.32
benign
null single nucleotide variant not provided [RCV001594543] Chr4:17504264 [GRCh38]
Chr4:17505887 [GRCh37]
Chr4:4p15.32
benign
NM_004360.5(CDH1):c.49-8C>T 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] 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
uncertain significance
null 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
null single nucleotide variant not provided [RCV001615699] Chr4:17509084 [GRCh38]
Chr4:17510707 [GRCh37]
Chr4:4p15.32
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) 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
null 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
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
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_016343.4(CENPF):c.3244C>T (p.His1082Tyr) 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] 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
likely pathogenic
Single allele 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_014053.4(FLVCR1):c.663C>T (p.Pro221=) 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
null single nucleotide variant not provided [RCV001671571] Chr4:17504518 [GRCh38]
Chr4:17506141 [GRCh37]
Chr4:4p15.32
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) 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

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 Protein ENSP00000281243 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390944 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420873 UniProtKB/TrEMBL
  ENSP00000422759 UniProtKB/TrEMBL
  ENSP00000423227 UniProtKB/TrEMBL
  ENSP00000426039 UniProtKB/TrEMBL
  ENSP00000426377 UniProtKB/TrEMBL
Ensembl Transcript ENST00000281243 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000428702 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000505710 UniProtKB/TrEMBL
  ENST00000507439 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000508623 UniProtKB/TrEMBL
  ENST00000513615 UniProtKB/TrEMBL
  ENST00000514300 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 261630 OMIM
  612676 OMIM
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
  B7Z415_HUMAN UniProtKB/TrEMBL
  D6RGG7_HUMAN UniProtKB/TrEMBL
  D6RHJ7_HUMAN UniProtKB/TrEMBL
  DHPR_HUMAN UniProtKB/Swiss-Prot
  H0Y8F7_HUMAN UniProtKB/TrEMBL
  P09417 ENTREZGENE
UniProt Secondary A8K158 UniProtKB/Swiss-Prot
  B3KW71 UniProtKB/Swiss-Prot
  Q53F52 UniProtKB/Swiss-Prot
  Q9H3M5 UniProtKB/Swiss-Prot