DDR2 (discoidin domain receptor tyrosine kinase 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: DDR2 (discoidin domain receptor tyrosine kinase 2) Homo sapiens
Analyze
Symbol: DDR2
Name: discoidin domain receptor tyrosine kinase 2
RGD ID: 1312254
HGNC Page HGNC:2731
Description: Enables collagen binding activity and protein tyrosine kinase collagen receptor activity. Involved in several processes, including collagen-activated tyrosine kinase receptor signaling pathway; positive regulation of osteoblast differentiation; and protein phosphorylation. Located in actin cytoskeleton and plasma membrane. Implicated in bone disease (multiple) and gastrointestinal system cancer (multiple). Biomarker of carcinoma (multiple) and stomach cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD167 antigen-like family member B; cell migration-inducing protein 20; discoidin domain receptor 2; discoidin domain receptor family, member 2; discoidin domain-containing receptor 2; discoidin domain-containing receptor tyrosine kinase 2; hydroxyaryl-protein kinase; MIG20a; migration-inducing gene 16 protein; neurotrophic tyrosine kinase receptor related 3; neurotrophic tyrosine kinase, receptor-related 3; NTRKR3; receptor protein-tyrosine kinase TKT; TKT; TYRO10; tyrosine-protein kinase TYRO10; tyrosylprotein kinase; WRCN
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
GRCh381162,630,863 - 162,787,405 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,631,373 - 162,787,405 (+)EnsemblGRCh38hg38GRCh38
GRCh371162,600,653 - 162,757,195 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361160,868,852 - 161,016,879 (+)NCBINCBI36Build 36hg18NCBI36
Build 341159,333,917 - 159,481,869NCBI
Celera1135,705,279 - 135,854,329 (+)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1133,847,299 - 133,995,362 (+)NCBIHuRef
CHM1_11164,024,739 - 164,172,823 (+)NCBICHM1_1
T2T-CHM13v2.01161,974,884 - 162,131,644 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-butoxyethanol  (ISO)
2-methylcholine  (EXP)
3-methylcholanthrene  (ISO)
3-Nitrobenzanthrone  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (EXP)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (ISO)
acrylamide  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-naphthoflavone  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aripiprazole  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
DDE  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
FR900359  (EXP)
furan  (ISO)
geldanamycin  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
inulin  (ISO)
iron dichloride  (EXP)
lead diacetate  (ISO)
Licochalcone B  (EXP)
lithium atom  (EXP)
lithium hydride  (EXP)
mercury dibromide  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mifepristone  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
ponatinib  (EXP)
potassium dichromate  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tebuconazole  (EXP)
temozolomide  (EXP)
thapsigargin  (ISO)
thiram  (EXP)
titanium dioxide  (EXP,ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
biomineral tissue development  (IEA,ISS)
brain-derived neurotrophic factor receptor signaling pathway  (IEA)
cell adhesion  (TAS)
cell surface receptor protein tyrosine kinase signaling pathway  (IBA,IEA,ISO)
cellular response to angiotensin  (IEA,ISO)
cellular response to hypoxia  (IEA,ISO)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
chondrocyte proliferation  (IEA,ISS,TAS)
chromatin remodeling  (IEA)
collagen fibril organization  (IEA,ISS)
collagen-activated tyrosine kinase receptor signaling pathway  (IDA,IEA)
endochondral bone growth  (IEA,ISS)
ephrin receptor signaling pathway  (IEA)
epidermal growth factor receptor signaling pathway  (IEA)
fibroblast growth factor receptor signaling pathway  (IEA)
hepatocyte growth factor receptor signaling pathway  (IEA)
insulin receptor signaling pathway  (IEA)
insulin-like growth factor receptor signaling pathway  (IEA)
Kit signaling pathway  (IEA)
macrophage colony-stimulating factor signaling pathway  (IEA)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of hydrogen peroxide-mediated programmed cell death  (IEA,ISO)
negative regulation of kinase activity  (ISO)
ossification  (IEA)
peptidyl-tyrosine phosphorylation  (IDA)
platelet-derived growth factor receptor-alpha signaling pathway  (IEA)
platelet-derived growth factor receptor-beta signaling pathway  (IEA)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of cellular process  (ISO)
positive regulation of collagen biosynthetic process  (IEA,ISO)
positive regulation of DNA-binding transcription factor activity  (IMP)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of extracellular matrix disassembly  (IEA,ISS)
positive regulation of fibroblast migration  (IEA,ISS,TAS)
positive regulation of fibroblast proliferation  (IEA,ISS)
positive regulation of G1/S transition of mitotic cell cycle  (IEA,ISO)
positive regulation of hepatic stellate cell activation  (IEA,ISO)
positive regulation of hepatic stellate cell proliferation  (IEA,ISO)
positive regulation of neuron projection development  (IBA)
positive regulation of osteoblast differentiation  (IMP)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IBA)
positive regulation of protein kinase activity  (IMP)
positive regulation of vascular associated smooth muscle cell migration  (IEA,ISO)
positive regulation of vascular associated smooth muscle cell proliferation  (IEA,ISO)
positive regulation of wound healing  (IEA,ISO)
protein autophosphorylation  (IDA,ISO)
regulation of bone mineralization  (IMP)
regulation of extracellular matrix disassembly  (TAS)
regulation of tissue remodeling  (IMP)
response to muscle stretch  (IEA,ISO)
signal transduction  (TAS)
vascular endothelial growth factor receptor-1 signaling pathway  (IEA)
vascular endothelial growth factor signaling pathway  (IEA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal calcification of the carpal bones  (IAGP)
Ankle flexion contracture  (IAGP)
Antenatal onset  (IAGP)
Anterior rib cupping  (IAGP)
Atlantoaxial instability  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bell-shaped thorax  (IAGP)
Blepharophimosis  (IAGP)
Bowing of the legs  (IAGP)
Broad face  (IAGP)
Broad long bones  (IAGP)
Broad metacarpals  (IAGP)
Broad palm  (IAGP)
Broad phalanx  (IAGP)
C1-C2 subluxation  (IAGP)
Calcification of cartilage  (IAGP)
Calcification of falx cerebri  (IAGP)
Cholesteatoma  (IAGP)
Concave nasal ridge  (IAGP)
Conductive hearing impairment  (IAGP)
Corneal neovascularization  (IAGP)
Decreased corneal thickness  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Elbow flexion contracture  (IAGP)
Enlarged naris  (IAGP)
Epicanthus  (IAGP)
Epiphyseal stippling  (IAGP)
Erythema  (IAGP)
Flared iliac wing  (IAGP)
Flared metaphysis  (IAGP)
Flexion contracture of finger  (IAGP)
Follicular hyperkeratosis  (IAGP)
Frontal bossing  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
High palate  (IAGP)
Hip subluxation  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the ear cartilage  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hypotonia  (IAGP)
Joint swelling  (IAGP)
Knee flexion contracture  (IAGP)
Limbal stem cell deficiency  (IAGP)
Long face  (IAGP)
Long fibula  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Lung adenocarcinoma  (IAGP)
Malar flattening  (IAGP)
Metatarsus adductus  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Narrow chest  (IAGP)
Narrow nose  (IAGP)
Narrow palpebral fissure  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Osteolytic defects of the phalanges of the hand  (IAGP)
Parathyroid carcinoma  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Platyspondyly  (IAGP)
Pneumothorax  (IAGP)
Poor wound healing  (IAGP)
Posterior rib cupping  (IAGP)
Posteriorly rotated ears  (IAGP)
Progressive calcification of costochondral cartilage  (IAGP)
Proptosis  (IAGP)
Recurrent pneumonia  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinal dystrophy  (IAGP)
Scoliosis  (IAGP)
Short chin  (IAGP)
Short finger  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short phalanx of finger  (IAGP)
Short ribs  (IAGP)
Spinal cord compression  (IAGP)
Spondyloepimetaphyseal dysplasia  (IAGP)
Squamous cell carcinoma  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Sterile abscess  (IAGP)
Symblepharon  (IAGP)
Syringomyelia  (IAGP)
Thin skin  (IAGP)
Thoracic hypoplasia  (IAGP)
Tracheal calcification  (IAGP)
Triangular shaped distal phalanges of the hand  (IAGP)
Underdeveloped nasal alae  (IAGP)
Visual impairment  (IAGP)
Wide anterior fontanel  (IAGP)
Wrist flexion contracture  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Discoidin domain receptor 2 deficiency predisposes hepatic tissue to colon carcinoma metastasis. Badiola I, etal., Gut. 2012 Oct;61(10):1465-72. doi: 10.1136/gutjnl-2011-300810. Epub 2011 Nov 9.
2. Downregulation of discoidin domain receptor 2 in A375 human melanoma cells reduces its experimental liver metastasis ability. Badiola I, etal., Oncol Rep. 2011 Oct;26(4):971-8. doi: 10.3892/or.2011.1356. Epub 2011 Jun 23.
3. Upregulation of discoidin domain receptor 2 in nasopharyngeal carcinoma. Chua HH, etal., Head Neck. 2008 Apr;30(4):427-36. doi: 10.1002/hed.20724.
4. Expression and mutation analysis of the discoidin domain receptors 1 and 2 in non-small cell lung carcinoma. Ford CE, etal., Br J Cancer. 2007 Mar 12;96(5):808-14. doi: 10.1038/sj.bjc.6603614. Epub 2007 Feb 13.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Discoidin domain receptor inhibition reduces neuropathology and attenuates inflammation in neurodegeneration models. Hebron M, etal., J Neuroimmunol. 2017 Oct 15;311:1-9. doi: 10.1016/j.jneuroim.2017.07.009. Epub 2017 Aug 12.
7. Integrated Molecular Profiling of Human Gastric Cancer Identifies DDR2 as a Potential Regulator of Peritoneal Dissemination. Kurashige J, etal., Sci Rep. 2016 Mar 3;6:22371. doi: 10.1038/srep22371.
8. DDR2 and IFITM1 Are Prognostic Markers in Gallbladder Squamous Cell/Adenosquamous Carcinomas and Adenocarcinomas. Li D, etal., Pathol Oncol Res. 2019 Jan;25(1):157-167. doi: 10.1007/s12253-017-0314-3. Epub 2017 Oct 17.
9. Allogeneic adipose-derived stem cell transplantation on knee osteoarthritis rats and its effect on MMP-13 and DDR2. Li J, etal., Exp Ther Med. 2019 Jul;18(1):99-104. doi: 10.3892/etm.2019.7554. Epub 2019 May 8.
10. Amplification of DDR2 mediates sorafenib resistance through NF-κB/c-Rel signaling in hepatocellular carcinoma. Liu QQ, etal., Cell Biol Int. 2021 Sep;45(9):1906-1916. doi: 10.1002/cbin.11625. Epub 2021 May 16.
11. RNA interference against discoidin domain receptor 2 ameliorates alcoholic liver disease in rats. Luo Z, etal., PLoS One. 2013;8(2):e55860. doi: 10.1371/journal.pone.0055860. Epub 2013 Feb 7.
12. Identification of novel driver mutations of the discoidin domain receptor 2 (DDR2) gene in squamous cell lung cancer of Chinese patients. Miao L, etal., BMC Cancer. 2014 May 24;14:369. doi: 10.1186/1471-2407-14-369.
13. Effect of Bushenhuoxue formula on interleukin-1 beta and discoidin domain receptor 2 levels in a rat model of osteoarthritis. Nianhu L, etal., J Tradit Chin Med. 2015 Apr;35(2):192-6. doi: 10.1016/s0254-6272(15)30027-3.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. DDR2 polymorphisms and mRNA expression in lung cancers of Japanese patients. Sasaki H, etal., Oncol Lett. 2012 Jul;4(1):33-37. doi: 10.3892/ol.2012.684. Epub 2012 Apr 18.
19. DDR2 Expression Is Associated with a High Frequency of Peritoneal Dissemination and Poor Prognosis in Colorectal Cancer. Sasaki S, etal., Anticancer Res. 2017 May;37(5):2587-2591. doi: 10.21873/anticanres.11603.
20. DDR2 overexpression in oral squamous cell carcinoma is associated to lymph node metastasis. Velmurugan BK, etal., Cancer Biomark. 2018;22(4):747-753. doi: 10.3233/CBM-181302.
21. DDR2 Induces Gastric Cancer Cell Activities via Activating mTORC2 Signaling and Is Associated with Clinicopathological Characteristics of Gastric Cancer. Wang YG, etal., Dig Dis Sci. 2016 Aug;61(8):2272-2283. doi: 10.1007/s10620-016-4116-3. Epub 2016 Mar 24.
22. DDR2 facilitates hepatocellular carcinoma invasion and metastasis via activating ERK signaling and stabilizing SNAIL1. Xie B, etal., J Exp Clin Cancer Res. 2015 Sep 11;34:101. doi: 10.1186/s13046-015-0218-6.
23. Overexpression of DDR2 contributes to cell invasion and migration in head and neck squamous cell carcinoma. Xu J, etal., Cancer Biol Ther. 2014 May;15(5):612-22. doi: 10.4161/cbt.28181. Epub 2014 Feb 20.
24. A host deficiency of discoidin domain receptor 2 (DDR2) inhibits both tumour angiogenesis and metastasis. Zhang S, etal., J Pathol. 2014 Mar;232(4):436-48. doi: 10.1002/path.4311.
25. Experimental chondrocyte hypertrophy is promoted by the activation of discoidin domain receptor 2. Zhang S, etal., Mol Med Rep. 2014 Sep;10(3):1543-8. doi: 10.3892/mmr.2014.2340. Epub 2014 Jun 17.
26. Expression of discoidin domain receptors (DDR2) in alcoholic liver fibrosis in rats. Zhang XH, etal., Arch Med Res. 2010 Nov;41(8):586-92. doi: 10.1016/j.arcmed.2010.10.010.
27. The discoidin domain receptor 2/annexin A2/matrix metalloproteinase 13 loop promotes joint destruction in arthritis through promoting migration and invasion of fibroblast-like synoviocytes. Zhao W, etal., Arthritis Rheumatol. 2014 Sep;66(9):2355-67. doi: 10.1002/art.38696.
Additional References at PubMed
PMID:1486804   PMID:1567394   PMID:7774938   PMID:8125298   PMID:8247548   PMID:8889549   PMID:9659899   PMID:11133186   PMID:11884411   PMID:12477932   PMID:12935821   PMID:14702039  
PMID:15111304   PMID:15544808   PMID:16186104   PMID:16186108   PMID:16344560   PMID:16626936   PMID:16806867   PMID:16884738   PMID:16967187   PMID:17703188   PMID:17786355   PMID:17968949  
PMID:18201965   PMID:19110212   PMID:19322201   PMID:19415460   PMID:19536175   PMID:20004161   PMID:20223752   PMID:20379614   PMID:20432435   PMID:20564243   PMID:20628624   PMID:21335558  
PMID:21423176   PMID:21477649   PMID:21873635   PMID:22328973   PMID:22832484   PMID:22939624   PMID:23131558   PMID:23233663   PMID:23307244   PMID:23376485   PMID:23401445   PMID:23546533  
PMID:23644467   PMID:23822953   PMID:24018687   PMID:24296828   PMID:24361528   PMID:24505276   PMID:24631539   PMID:24723326   PMID:24725993   PMID:24740739   PMID:24781958   PMID:24787381  
PMID:24828669   PMID:25036637   PMID:25130389   PMID:25173530   PMID:25348954   PMID:25470979   PMID:25658585   PMID:25667101   PMID:25798074   PMID:25842034   PMID:25921289   PMID:26067556  
PMID:26191278   PMID:26271983   PMID:26463668   PMID:26496610   PMID:26702058   PMID:26772530   PMID:26826182   PMID:27121132   PMID:27264173   PMID:27350126   PMID:27653023   PMID:27793038  
PMID:28147276   PMID:28161936   PMID:28270508   PMID:28319085   PMID:28676216   PMID:28754957   PMID:28890335   PMID:29129434   PMID:29180619   PMID:29216386   PMID:29348456   PMID:29507755  
PMID:29616590   PMID:29709482   PMID:29742433   PMID:30048458   PMID:30061414   PMID:30449416   PMID:30810094   PMID:31570520   PMID:31871319   PMID:32047176   PMID:33603168   PMID:33634432  
PMID:33882324   PMID:33961781   PMID:34065317   PMID:34477203   PMID:35384245   PMID:35711892   PMID:35761108   PMID:35904852   PMID:36215168   PMID:36370214   PMID:36713812   PMID:36736316  
PMID:37996700   PMID:38117590   PMID:38154356   PMID:38538106   PMID:38914168  


Genomics

Comparative Map Data
DDR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381162,630,863 - 162,787,405 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1162,631,373 - 162,787,405 (+)EnsemblGRCh38hg38GRCh38
GRCh371162,600,653 - 162,757,195 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361160,868,852 - 161,016,879 (+)NCBINCBI36Build 36hg18NCBI36
Build 341159,333,917 - 159,481,869NCBI
Celera1135,705,279 - 135,854,329 (+)NCBICelera
Cytogenetic Map1q23.3NCBI
HuRef1133,847,299 - 133,995,362 (+)NCBIHuRef
CHM1_11164,024,739 - 164,172,823 (+)NCBICHM1_1
T2T-CHM13v2.01161,974,884 - 162,131,644 (+)NCBIT2T-CHM13v2.0
Ddr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,799,874 - 169,938,525 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1169,799,876 - 169,938,331 (-)EnsemblGRCm39 Ensembl
GRCm381169,972,307 - 170,110,836 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,972,307 - 170,110,762 (-)EnsemblGRCm38mm10GRCm38
MGSCv371171,902,438 - 172,019,075 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361171,814,321 - 171,947,234 (-)NCBIMGSCv36mm8
Celera1172,414,199 - 172,531,584 (-)NCBICelera
Cytogenetic Map1H3NCBI
cM Map176.84NCBI
Ddr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81384,726,412 - 84,851,032 (-)NCBIGRCr8
mRatBN7.21382,193,623 - 82,318,229 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1382,195,463 - 82,317,363 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1384,825,759 - 84,870,742 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01386,118,972 - 86,164,115 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01383,350,999 - 83,395,987 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01388,311,639 - 88,436,561 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1388,317,145 - 88,436,789 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01392,937,900 - 93,062,655 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41385,801,449 - 85,846,636 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11385,816,366 - 85,822,349 (-)NCBI
Celera1381,860,445 - 81,905,616 (-)NCBICelera
Cytogenetic Map13q24NCBI
Ddr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546213,584,724 - 13,642,968 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546213,578,638 - 13,644,834 (-)NCBIChiLan1.0ChiLan1.0
DDR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2186,997,783 - 87,151,567 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1186,666,323 - 86,818,185 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01138,048,730 - 138,200,426 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11141,845,361 - 141,997,082 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1141,932,158 - 141,990,766 (+)Ensemblpanpan1.1panPan2
DDR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13820,002,984 - 20,152,930 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3820,008,057 - 20,152,275 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3820,058,141 - 20,208,046 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03820,086,562 - 20,234,983 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3820,088,843 - 20,234,493 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13820,061,517 - 20,211,219 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03820,413,313 - 20,562,417 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03820,704,566 - 20,854,433 (-)NCBIUU_Cfam_GSD_1.0
Ddr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244050588,484,022 - 8,632,611 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936831865,965 - 946,139 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936831799,948 - 946,139 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DDR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl487,756,168 - 87,911,296 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1487,749,738 - 87,911,818 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2495,474,605 - 95,564,964 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DDR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1201,298,636 - 1,451,872 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl201,299,574 - 1,359,674 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038314,909 - 469,563 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ddr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248261,173,621 - 1,249,692 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248261,225,217 - 1,255,889 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DDR2
344 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006182.4(DDR2):c.-27-193T>C single nucleotide variant not provided [RCV001564542] Chr1:162718844 [GRCh38]
Chr1:162688634 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2283+1G>A single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000013109] Chr1:162776371 [GRCh38]
Chr1:162746161 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.2254C>T (p.Arg752Cys) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000013106] Chr1:162776341 [GRCh38]
Chr1:162746131 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.2177T>G (p.Ile726Arg) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000013107] Chr1:162776264 [GRCh38]
Chr1:162746054 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.2138C>T (p.Thr713Ile) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000013108] Chr1:162776225 [GRCh38]
Chr1:162746015 [GRCh37]
Chr1:1q23.3
pathogenic
NM_001014796.1(DDR2):c.-108+6265G>T single nucleotide variant Lung cancer [RCV000089855] Chr1:162661639 [GRCh38]
Chr1:162631429 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1
pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
NM_006182.4(DDR2):c.337G>A (p.Glu113Lys) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000054530]|not provided [RCV001377778] Chr1:162754775 [GRCh38]
Chr1:162724565 [GRCh37]
Chr1:1q23.3
pathogenic|likely pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1 copy number loss See cases [RCV000053915] Chr1:162040050..167480663 [GRCh38]
Chr1:162009840..167449900 [GRCh37]
Chr1:160276464..165716524 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
NM_001014796.1(DDR2):c.2304T>G (p.Ser768Arg) single nucleotide variant Malignant melanoma [RCV000064279] Chr1:162778600 [GRCh38]
Chr1:162748390 [GRCh37]
Chr1:161015014 [NCBI36]
Chr1:1q23.3
not provided
NM_006182.4(DDR2):c.1158C>A (p.Thr386=) single nucleotide variant not provided [RCV001813045] Chr1:162766059 [GRCh38]
Chr1:162735849 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.408T>C (p.His136=) single nucleotide variant Connective tissue disorder [RCV002277416]|Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096167]|not provided [RCV000961104]|not specified [RCV000178913] Chr1:162754846 [GRCh38]
Chr1:162724636 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
NM_006182.4(DDR2):c.720C>T (p.Asp240=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000297499]|not provided [RCV000180294] Chr1:162759844 [GRCh38]
Chr1:162729634 [GRCh37]
Chr1:1q23.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006182.4(DDR2):c.-27-11G>C single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000397101]|not provided [RCV004691153] Chr1:162719026 [GRCh38]
Chr1:162688816 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn) single nucleotide variant Connective tissue disorder [RCV002278334]|Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000262600]|not provided [RCV000900578]|not specified [RCV003235182] Chr1:162761287 [GRCh38]
Chr1:162731077 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_006182.4(DDR2):c.716T>C (p.Leu239Pro) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000277507]|not provided [RCV001859753] Chr1:162759840 [GRCh38]
Chr1:162729630 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2237G>A (p.Arg746Gln) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000288571] Chr1:162776324 [GRCh38]
Chr1:162746114 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2068A>G (p.Met690Val) single nucleotide variant Connective tissue disorder [RCV002278335]|Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000380648]|not provided [RCV000953431] Chr1:162776155 [GRCh38]
Chr1:162745945 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_006182.4(DDR2):c.2397G>C (p.Glu799Asp) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000383023]|not provided [RCV001850493] Chr1:162778693 [GRCh38]
Chr1:162748483 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.476T>C (p.Ile159Thr) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000369732]|not provided [RCV001850492] Chr1:162755214 [GRCh38]
Chr1:162725004 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1142C>G (p.Pro381Arg) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000376966]|not provided [RCV001859754] Chr1:162766043 [GRCh38]
Chr1:162735833 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1005G>C (p.Thr335=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000320022] Chr1:162761360 [GRCh38]
Chr1:162731150 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1508G>C (p.Cys503Ser) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000323660]|not provided [RCV002522066] Chr1:162772027 [GRCh38]
Chr1:162741817 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.383G>A (p.Arg128His) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000312922]|not provided [RCV000514480] Chr1:162754821 [GRCh38]
Chr1:162724611 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2253C>T (p.Ile751=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000345839]|not provided [RCV002059343] Chr1:162776340 [GRCh38]
Chr1:162746130 [GRCh37]
Chr1:1q23.3
benign|uncertain significance
NM_006182.4(DDR2):c.778C>T (p.Arg260Trp) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000354735]|not provided [RCV002519405] Chr1:162759902 [GRCh38]
Chr1:162729692 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.510C>T (p.Thr170=) single nucleotide variant DDR2-related disorder [RCV003891935]|Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096170]|not provided [RCV000961907] Chr1:162755248 [GRCh38]
Chr1:162725038 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_006182.4(DDR2):c.1856+32G>T single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001660293]|Squamous cell lung carcinoma [RCV001250956]|Warburg-cinotti syndrome [RCV001660294]|not provided [RCV001640540]|not specified [RCV000253763] Chr1:162773628 [GRCh38]
Chr1:162743418 [GRCh37]
Chr1:1q23.3
benign|uncertain significance
NM_006182.4(DDR2):c.1260C>G (p.Leu420=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000266095]|Squamous cell lung carcinoma [RCV001250939]|Warburg-cinotti syndrome [RCV001660290]|not provided [RCV001517527]|not specified [RCV000254549] Chr1:162767326 [GRCh38]
Chr1:162737116 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_006182.4(DDR2):c.2219A>G (p.Tyr740Cys) single nucleotide variant Warburg-cinotti syndrome [RCV000755661]|not provided [RCV001772016] Chr1:162776306 [GRCh38]
Chr1:162746096 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_006182.4(DDR2):c.699C>T (p.Thr233=) single nucleotide variant Connective tissue disorder [RCV002278178]|Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001097914]|not provided [RCV000960223]|not specified [RCV000242131] Chr1:162759823 [GRCh38]
Chr1:162729613 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_006182.4(DDR2):c.83-39C>G single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001660295]|Warburg-cinotti syndrome [RCV001660296]|not provided [RCV001722325]|not specified [RCV000245323] Chr1:162753056 [GRCh38]
Chr1:162722846 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.2481G>T (p.Leu827=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096263]|not provided [RCV000961908]|not specified [RCV000246039] Chr1:162780159 [GRCh38]
Chr1:162749949 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_006182.4(DDR2):c.1504+25T>C single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001660291]|Squamous cell lung carcinoma [RCV001250953]|Warburg-cinotti syndrome [RCV001660292]|not provided [RCV001722324]|not specified [RCV000246308] Chr1:162770537 [GRCh38]
Chr1:162740327 [GRCh37]
Chr1:1q23.3
benign|uncertain significance
NM_006182.4(DDR2):c.1505-20C>T single nucleotide variant not provided [RCV001689859]|not specified [RCV000249018] Chr1:162772004 [GRCh38]
Chr1:162741794 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.*187_*188del deletion Spondyloepimetaphyseal dysplasia [RCV000352636]|not provided [RCV001718595] Chr1:162780421..162780422 [GRCh38]
Chr1:162750211..162750212 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.-219T>C single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000347937] Chr1:162632604 [GRCh38]
Chr1:162602394 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.437A>G (p.Asn146Ser) single nucleotide variant not provided [RCV000271619] Chr1:162755175 [GRCh38]
Chr1:162724965 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.357G>A (p.Lys119=) single nucleotide variant not provided [RCV000313960] Chr1:162754795 [GRCh38]
Chr1:162724585 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) single nucleotide variant DDR2-related disorder [RCV003930072]|Non-small cell lung carcinoma [RCV000420230]|Squamous cell lung carcinoma [RCV000431522]|not provided [RCV000901354]|not specified [RCV000320621] Chr1:162772032 [GRCh38]
Chr1:162741822 [GRCh37]
Chr1:1q23.3
likely pathogenic|benign|likely benign|not provided
NM_006182.4(DDR2):c.786G>T (p.Glu262Asp) single nucleotide variant not provided [RCV000261873] Chr1:162759910 [GRCh38]
Chr1:162729700 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu) single nucleotide variant DDR2-related disorder [RCV003957460]|not provided [RCV000514701]|not specified [RCV000403370] Chr1:162770390 [GRCh38]
Chr1:162740180 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_006182.4(DDR2):c.672-118C>T single nucleotide variant not provided [RCV002286000] Chr1:162759678 [GRCh38]
Chr1:162729468 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.*42C>A single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000290999] Chr1:162780288 [GRCh38]
Chr1:162750078 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.*77C>G single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000348307] Chr1:162780323 [GRCh38]
Chr1:162750113 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.*171AC[1] microsatellite Spondyloepimetaphyseal dysplasia [RCV000404213] Chr1:162780417..162780418 [GRCh38]
Chr1:162750207..162750208 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.*188del deletion Spondyloepimetaphyseal dysplasia [RCV000295491]|not provided [RCV001707620] Chr1:162780421 [GRCh38]
Chr1:162750211 [GRCh37]
Chr1:1q23.3
benign|uncertain significance
NM_006182.4(DDR2):c.-318C>T single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001099611] Chr1:162632505 [GRCh38]
Chr1:162602295 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2110C>G (p.Leu704Val) single nucleotide variant not provided [RCV000593180] Chr1:162776197 [GRCh38]
Chr1:162745987 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1509C>T (p.Cys503=) single nucleotide variant Connective tissue disorder [RCV002279384]|Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001101688]|not provided [RCV000891917]|not specified [RCV000593449] Chr1:162772028 [GRCh38]
Chr1:162741818 [GRCh37]
Chr1:1q23.3
benign|uncertain significance
NM_006182.4(DDR2):c.1099+12A>C single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001099700]|not provided [RCV001555600] Chr1:162761466 [GRCh38]
Chr1:162731256 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_006182.4(DDR2):c.1323G>A (p.Met441Ile) single nucleotide variant Connective tissue disorder [RCV002279700]|Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001099701]|not provided [RCV001513481] Chr1:162770331 [GRCh38]
Chr1:162740121 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_006182.4(DDR2):c.1355G>C (p.Ser452Thr) single nucleotide variant not specified [RCV001002318] Chr1:162770363 [GRCh38]
Chr1:162740153 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
NM_006182.4(DDR2):c.757G>T (p.Gly253Cys) single nucleotide variant Non-small cell lung carcinoma [RCV000441392]|Squamous cell lung carcinoma [RCV000421258] Chr1:162759881 [GRCh38]
Chr1:162729671 [GRCh37]
Chr1:1q23.3
likely pathogenic|not provided
NM_006182.4(DDR2):c.2321G>T (p.Gly774Val) single nucleotide variant Non-small cell lung carcinoma [RCV000440691]|Squamous cell lung carcinoma [RCV000421396] Chr1:162778617 [GRCh38]
Chr1:162748407 [GRCh37]
Chr1:1q23.3
likely pathogenic|not provided
NM_006182.4(DDR2):c.716T>G (p.Leu239Arg) single nucleotide variant Squamous cell lung carcinoma [RCV000439780] Chr1:162759840 [GRCh38]
Chr1:162729630 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_006182.4(DDR2):c.187C>G (p.Leu63Val) single nucleotide variant Non-small cell lung carcinoma [RCV000431139]|Squamous cell lung carcinoma [RCV000429539]|not provided [RCV001851014]|not specified [RCV003330662] Chr1:162754625 [GRCh38]
Chr1:162724415 [GRCh37]
Chr1:1q23.3
likely pathogenic|uncertain significance|not provided
NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg) single nucleotide variant Non-small cell lung carcinoma [RCV000423026]|Squamous cell carcinoma [RCV000437846] Chr1:162778600 [GRCh38]
Chr1:162748390 [GRCh37]
Chr1:1q23.3
pathogenic|not provided
NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe) single nucleotide variant Non-small cell lung carcinoma [RCV000430445]|Squamous cell lung carcinoma [RCV000439136] Chr1:162775707 [GRCh38]
Chr1:162745497 [GRCh37]
Chr1:1q23.3
likely pathogenic|not provided
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_006182.4(DDR2):c.784G>A (p.Glu262Lys) single nucleotide variant not provided [RCV000658338] Chr1:162759908 [GRCh38]
Chr1:162729698 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:162315980-162997340)x3 copy number gain not provided [RCV000684669] Chr1:162315980..162997340 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1829T>C (p.Leu610Pro) single nucleotide variant Warburg-cinotti syndrome [RCV000714481] Chr1:162773569 [GRCh38]
Chr1:162743359 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.508A>T (p.Thr170Ser) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000714577]|not provided [RCV000917056] Chr1:162755246 [GRCh38]
Chr1:162725036 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_006182.4(DDR2):c.2387A>T (p.Gln796Leu) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000714576] Chr1:162778683 [GRCh38]
Chr1:162748473 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
NM_006182.4(DDR2):c.185+175T>C single nucleotide variant not provided [RCV001644503] Chr1:162753372 [GRCh38]
Chr1:162723162 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.2355A>G (p.Gln785=) single nucleotide variant not provided [RCV000916219] Chr1:162778651 [GRCh38]
Chr1:162748441 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2284-223G>A single nucleotide variant not provided [RCV001645938] Chr1:162778357 [GRCh38]
Chr1:162748147 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1163-164_1163-163insAAAAA insertion not provided [RCV001568538] Chr1:162767061..162767062 [GRCh38]
Chr1:162736851..162736852 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.471G>A (p.Pro157=) single nucleotide variant not provided [RCV000906681] Chr1:162755209 [GRCh38]
Chr1:162724999 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1465C>A (p.Arg489=) single nucleotide variant not provided [RCV000921774] Chr1:162770473 [GRCh38]
Chr1:162740263 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2520C>T (p.Pro840=) single nucleotide variant not provided [RCV000922877] Chr1:162780198 [GRCh38]
Chr1:162749988 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.189G>C (p.Leu63=) single nucleotide variant not provided [RCV000982708] Chr1:162754627 [GRCh38]
Chr1:162724417 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.243T>A (p.Asp81Glu) single nucleotide variant DDR2-related disorder [RCV003895491]|not provided [RCV000901404] Chr1:162754681 [GRCh38]
Chr1:162724471 [GRCh37]
Chr1:1q23.3
likely benign|conflicting interpretations of pathogenicity
NM_006182.4(DDR2):c.2559C>T (p.Gly853=) single nucleotide variant not provided [RCV000967921] Chr1:162780237 [GRCh38]
Chr1:162750027 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.83-4C>T single nucleotide variant Connective tissue disorder [RCV002279624]|Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001101580]|not provided [RCV000904338] Chr1:162753091 [GRCh38]
Chr1:162722881 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_006182.4(DDR2):c.1965A>G (p.Glu655=) single nucleotide variant not provided [RCV000905339] Chr1:162775760 [GRCh38]
Chr1:162745550 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1831C>T (p.Arg611Ter) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000778192]|not provided [RCV003669169] Chr1:162773571 [GRCh38]
Chr1:162743361 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NM_006182.4(DDR2):c.2T>G (p.Met1Arg) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000778190]|not provided [RCV002536727] Chr1:162719065 [GRCh38]
Chr1:162688855 [GRCh37]
Chr1:1q23.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006182.4(DDR2):c.691C>T (p.Gln231Ter) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV000778191] Chr1:162759815 [GRCh38]
Chr1:162729605 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.783C>T (p.Asn261=) single nucleotide variant not provided [RCV000924054] Chr1:162759907 [GRCh38]
Chr1:162729697 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2001C>T (p.Ser667=) single nucleotide variant not provided [RCV000922625] Chr1:162775796 [GRCh38]
Chr1:162745586 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2508G>A (p.Thr836=) single nucleotide variant not provided [RCV000896192] Chr1:162780186 [GRCh38]
Chr1:162749976 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.447C>T (p.Asp149=) single nucleotide variant not provided [RCV000938560] Chr1:162755185 [GRCh38]
Chr1:162724975 [GRCh37]
Chr1:1q23.3
likely benign
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
NM_006182.4(DDR2):c.2031C>T (p.Ser677=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001101690]|not provided [RCV000893175] Chr1:162775826 [GRCh38]
Chr1:162745616 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_006182.4(DDR2):c.919C>T (p.Arg307Cys) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001097915]|not provided [RCV002554917] Chr1:162761274 [GRCh38]
Chr1:162731064 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.*48A>G single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096266]|not provided [RCV004691340] Chr1:162780294 [GRCh38]
Chr1:162750084 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.*16G>A single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096265] Chr1:162780262 [GRCh38]
Chr1:162750052 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.100C>A (p.Leu34Met) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096165] Chr1:162753112 [GRCh38]
Chr1:162722902 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.421C>T (p.Leu141=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096169] Chr1:162755159 [GRCh38]
Chr1:162724949 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2504A>G (p.Asp835Gly) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096264]|not provided [RCV002555982] Chr1:162780182 [GRCh38]
Chr1:162749972 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.348dup (p.Met117fs) duplication not provided [RCV001009270] Chr1:162754781..162754782 [GRCh38]
Chr1:162724571..162724572 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_006182.4(DDR2):c.1728+6T>C single nucleotide variant Warburg-cinotti syndrome [RCV001199172]|not provided [RCV003718386] Chr1:162772253 [GRCh38]
Chr1:162742043 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2
pathogenic
NM_006182.4(DDR2):c.-221C>T single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001101578] Chr1:162632602 [GRCh38]
Chr1:162602392 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3(chr1:162748370-162748520) copy number loss Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001195138] Chr1:162748370..162748520 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.418-12C>T single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096168] Chr1:162755144 [GRCh38]
Chr1:162724934 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.*219del deletion not provided [RCV001545183] Chr1:162780456 [GRCh38]
Chr1:162750246 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.-27-18A>G single nucleotide variant not provided [RCV001552186] Chr1:162719019 [GRCh38]
Chr1:162688809 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2049-82G>T single nucleotide variant not provided [RCV001570904] Chr1:162776054 [GRCh38]
Chr1:162745844 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.964C>T (p.Leu322Phe) single nucleotide variant Inborn genetic diseases [RCV003274536] Chr1:162761319 [GRCh38]
Chr1:162731109 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.83-129A>G single nucleotide variant not provided [RCV001567629] Chr1:162752966 [GRCh38]
Chr1:162722756 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.-27-146G>A single nucleotide variant not provided [RCV001588509] Chr1:162718891 [GRCh38]
Chr1:162688681 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2434-141T>C single nucleotide variant not provided [RCV001638706] Chr1:162779971 [GRCh38]
Chr1:162749761 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.83-235C>T single nucleotide variant not provided [RCV001560816] Chr1:162752860 [GRCh38]
Chr1:162722650 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1163-165_1163-164dup duplication not provided [RCV001671139] Chr1:162767061..162767062 [GRCh38]
Chr1:162736851..162736852 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1163-166_1163-164dup duplication not provided [RCV001561090] Chr1:162767061..162767062 [GRCh38]
Chr1:162736851..162736852 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1728+143T>C single nucleotide variant not provided [RCV001722061] Chr1:162772390 [GRCh38]
Chr1:162742180 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1293+189G>C single nucleotide variant not provided [RCV001722067] Chr1:162767548 [GRCh38]
Chr1:162737338 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1856+216C>T single nucleotide variant not provided [RCV001596532] Chr1:162773812 [GRCh38]
Chr1:162743602 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.856-195C>G single nucleotide variant not provided [RCV001555933] Chr1:162761016 [GRCh38]
Chr1:162730806 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2048+100G>T single nucleotide variant not provided [RCV001562987] Chr1:162775943 [GRCh38]
Chr1:162745733 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.380C>T (p.Thr127Ile) single nucleotide variant not provided [RCV001907579] Chr1:162754818 [GRCh38]
Chr1:162724608 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.186-98C>T single nucleotide variant not provided [RCV001544823] Chr1:162754526 [GRCh38]
Chr1:162724316 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1293+216G>A single nucleotide variant not provided [RCV001652162] Chr1:162767575 [GRCh38]
Chr1:162737365 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.186-269T>G single nucleotide variant not provided [RCV001581645] Chr1:162754355 [GRCh38]
Chr1:162724145 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2433+69C>A single nucleotide variant not provided [RCV001677630] Chr1:162778798 [GRCh38]
Chr1:162748588 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.243T>C (p.Asp81=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096166]|not provided [RCV000908388] Chr1:162754681 [GRCh38]
Chr1:162724471 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_006182.4(DDR2):c.1224C>A (p.Ile408=) single nucleotide variant not provided [RCV000897539] Chr1:162767290 [GRCh38]
Chr1:162737080 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.186-9C>T single nucleotide variant not provided [RCV000928786] Chr1:162754615 [GRCh38]
Chr1:162724405 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.-106G>T single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001101579] Chr1:162655296 [GRCh38]
Chr1:162625086 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.978C>T (p.Asp326=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001099699]|not provided [RCV003718314] Chr1:162761333 [GRCh38]
Chr1:162731123 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_006182.4(DDR2):c.306C>A (p.Thr102=) single nucleotide variant not provided [RCV000934948] Chr1:162754744 [GRCh38]
Chr1:162724534 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2331G>A (p.Leu777=) single nucleotide variant not provided [RCV000890524] Chr1:162778627 [GRCh38]
Chr1:162748417 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.417+147G>T single nucleotide variant not provided [RCV001562418] Chr1:162755002 [GRCh38]
Chr1:162724792 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1099+184G>A single nucleotide variant not provided [RCV001562758] Chr1:162761638 [GRCh38]
Chr1:162731428 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1729-228T>C single nucleotide variant not provided [RCV001554940] Chr1:162773241 [GRCh38]
Chr1:162743031 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1728+165T>G single nucleotide variant not provided [RCV001593376] Chr1:162772412 [GRCh38]
Chr1:162742202 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.671+96A>C single nucleotide variant not provided [RCV001671646] Chr1:162755865 [GRCh38]
Chr1:162725655 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.2434-46TC[6] microsatellite Squamous cell lung carcinoma [RCV001250957] Chr1:162780066..162780069 [GRCh38]
Chr1:162749856..162749859 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2003G>A (p.Arg668His) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001101689] Chr1:162775798 [GRCh38]
Chr1:162745588 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.-247G>A single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001101577] Chr1:162632576 [GRCh38]
Chr1:162602366 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.-258G>A single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001099612] Chr1:162632565 [GRCh38]
Chr1:162602355 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1163-187dup duplication not provided [RCV001691846] Chr1:162767031..162767032 [GRCh38]
Chr1:162736821..162736822 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1163-329C>T single nucleotide variant not provided [RCV001534077] Chr1:162766900 [GRCh38]
Chr1:162736690 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.855+154C>T single nucleotide variant not provided [RCV001585281] Chr1:162760133 [GRCh38]
Chr1:162729923 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1163-167_1163-164dup duplication not provided [RCV001679160] Chr1:162767061..162767062 [GRCh38]
Chr1:162736851..162736852 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1099+160C>T single nucleotide variant not provided [RCV001692906] Chr1:162761614 [GRCh38]
Chr1:162731404 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1196G>A (p.Arg399Gln) single nucleotide variant Inborn genetic diseases [RCV004039539]|not provided [RCV001597547] Chr1:162767262 [GRCh38]
Chr1:162737052 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.*152C>A single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001096267] Chr1:162780398 [GRCh38]
Chr1:162750188 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1389T>C (p.Ser463=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001099702]|not provided [RCV002069677] Chr1:162770397 [GRCh38]
Chr1:162740187 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_006182.4(DDR2):c.520A>G (p.Met174Val) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001097911] Chr1:162755258 [GRCh38]
Chr1:162725048 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.549C>T (p.Tyr183=) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001097912]|not provided [RCV002069652] Chr1:162755287 [GRCh38]
Chr1:162725077 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_006182.4(DDR2):c.672-9C>A single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001097913]|not provided [RCV002554916] Chr1:162759787 [GRCh38]
Chr1:162729577 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_006182.4(DDR2):c.1504+11T>C single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001101687]|not provided [RCV001577467] Chr1:162770523 [GRCh38]
Chr1:162740313 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_006182.4(DDR2):c.2434-46TC[9] microsatellite Squamous cell lung carcinoma [RCV001250959]|not provided [RCV004691333] Chr1:162780065..162780066 [GRCh38]
Chr1:162749855..162749856 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1505-19G>A single nucleotide variant Squamous cell lung carcinoma [RCV001250955]|not provided [RCV001811646] Chr1:162772005 [GRCh38]
Chr1:162741795 [GRCh37]
Chr1:1q23.3
benign|likely benign|uncertain significance
NM_006182.4(DDR2):c.2434-46TC[7] microsatellite Squamous cell lung carcinoma [RCV001250958] Chr1:162780066..162780067 [GRCh38]
Chr1:162749856..162749857 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1099+20T>C single nucleotide variant Squamous cell lung carcinoma [RCV001250954] Chr1:162761474 [GRCh38]
Chr1:162731264 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2125C>T (p.Arg709Ter) single nucleotide variant not provided [RCV003676222] Chr1:162776212 [GRCh38]
Chr1:162746002 [GRCh37]
Chr1:1q23.3
pathogenic
GRCh37/hg19 1q23.3(chr1:162536242-163169281)x3 copy number gain not provided [RCV001258477] Chr1:162536242..163169281 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.298G>T (p.Val100Leu) single nucleotide variant not provided [RCV001315828] Chr1:162754736 [GRCh38]
Chr1:162724526 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.91C>T (p.Arg31Cys) single nucleotide variant not provided [RCV001350692] Chr1:162753103 [GRCh38]
Chr1:162722893 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.833T>A (p.Ile278Asn) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001332741] Chr1:162759957 [GRCh38]
Chr1:162729747 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.313C>A (p.Arg105Ser) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001807995] Chr1:162754751 [GRCh38]
Chr1:162724541 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.494G>A (p.Arg165Gln) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001335384] Chr1:162755232 [GRCh38]
Chr1:162725022 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.85A>C (p.Ile29Leu) single nucleotide variant not provided [RCV001810672] Chr1:162753097 [GRCh38]
Chr1:162722887 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2225G>A (p.Arg742Gln) single nucleotide variant not provided [RCV001369338] Chr1:162776312 [GRCh38]
Chr1:162746102 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.540G>T (p.Val180=) single nucleotide variant not provided [RCV001392031] Chr1:162755278 [GRCh38]
Chr1:162725068 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1414G>A (p.Asp472Asn) single nucleotide variant not provided [RCV001324634] Chr1:162770422 [GRCh38]
Chr1:162740212 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1153A>T (p.Thr385Ser) single nucleotide variant Inborn genetic diseases [RCV002547450]|not provided [RCV001345854] Chr1:162766054 [GRCh38]
Chr1:162735844 [GRCh37]
Chr1:1q23.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006182.4(DDR2):c.2255G>A (p.Arg752His) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV002250750]|not provided [RCV001346920] Chr1:162776342 [GRCh38]
Chr1:162746132 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1464A>G (p.Ile488Met) single nucleotide variant Inborn genetic diseases [RCV002543848]|not provided [RCV001323199] Chr1:162770472 [GRCh38]
Chr1:162740262 [GRCh37]
Chr1:1q23.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006182.4(DDR2):c.79C>T (p.Pro27Ser) single nucleotide variant not provided [RCV001324268] Chr1:162719142 [GRCh38]
Chr1:162688932 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1651A>G (p.Lys551Glu) single nucleotide variant not provided [RCV001344180] Chr1:162772170 [GRCh38]
Chr1:162741960 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1417C>T (p.Arg473Cys) single nucleotide variant not provided [RCV001374334] Chr1:162770425 [GRCh38]
Chr1:162740215 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1004C>T (p.Thr335Met) single nucleotide variant Inborn genetic diseases [RCV004609731]|not provided [RCV001297563] Chr1:162761359 [GRCh38]
Chr1:162731149 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.459G>T (p.Lys153Asn) single nucleotide variant not provided [RCV001362011] Chr1:162755197 [GRCh38]
Chr1:162724987 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1382C>G (p.Ser461Ter) single nucleotide variant not provided [RCV001360301] Chr1:162770390 [GRCh38]
Chr1:162740180 [GRCh37]
Chr1:1q23.3
pathogenic|uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_006182.4(DDR2):c.1293+9G>A single nucleotide variant not provided [RCV001452317] Chr1:162767368 [GRCh38]
Chr1:162737158 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1163-163C>A single nucleotide variant not provided [RCV001527931] Chr1:162767066 [GRCh38]
Chr1:162736856 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.219C>T (p.Cys73=) single nucleotide variant not provided [RCV001425814] Chr1:162754657 [GRCh38]
Chr1:162724447 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2061G>A (p.Leu687=) single nucleotide variant not provided [RCV001502148] Chr1:162776148 [GRCh38]
Chr1:162745938 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2283+190A>G single nucleotide variant not provided [RCV001586425] Chr1:162776560 [GRCh38]
Chr1:162746350 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1293+92A>G single nucleotide variant not provided [RCV001618920] Chr1:162767451 [GRCh38]
Chr1:162737241 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.-27-206A>G single nucleotide variant not provided [RCV001682435] Chr1:162718831 [GRCh38]
Chr1:162688621 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1163-285G>C single nucleotide variant not provided [RCV001653340] Chr1:162766944 [GRCh38]
Chr1:162736734 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.2284-237T>C single nucleotide variant not provided [RCV001674239] Chr1:162778343 [GRCh38]
Chr1:162748133 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1729-152A>G single nucleotide variant not provided [RCV001652262] Chr1:162773317 [GRCh38]
Chr1:162743107 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1728+80C>T single nucleotide variant not provided [RCV001648223] Chr1:162772327 [GRCh38]
Chr1:162742117 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1017C>T (p.His339=) single nucleotide variant not provided [RCV001498201] Chr1:162761372 [GRCh38]
Chr1:162731162 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1906A>G (p.Asn636Asp) single nucleotide variant not provided [RCV001764139] Chr1:162775701 [GRCh38]
Chr1:162745491 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1039A>G (p.Lys347Glu) single nucleotide variant not provided [RCV001763589] Chr1:162761394 [GRCh38]
Chr1:162731184 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2189G>A (p.Gly730Glu) single nucleotide variant not provided [RCV001772411] Chr1:162776276 [GRCh38]
Chr1:162746066 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2450C>G (p.Pro817Arg) single nucleotide variant not provided [RCV001770805] Chr1:162780128 [GRCh38]
Chr1:162749918 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2275A>T (p.Ile759Phe) single nucleotide variant not provided [RCV001770812] Chr1:162776362 [GRCh38]
Chr1:162746152 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1163-164dup duplication not provided [RCV001779561] Chr1:162767061..162767062 [GRCh38]
Chr1:162736851..162736852 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.215G>T (p.Trp72Leu) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV001808926] Chr1:162754653 [GRCh38]
Chr1:162724443 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1412A>G (p.Tyr471Cys) single nucleotide variant not provided [RCV002008965] Chr1:162770420 [GRCh38]
Chr1:162740210 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.815T>C (p.Met272Thr) single nucleotide variant not provided [RCV001874027] Chr1:162759939 [GRCh38]
Chr1:162729729 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1466G>A (p.Arg489Gln) single nucleotide variant not provided [RCV001969603] Chr1:162770474 [GRCh38]
Chr1:162740264 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.748G>A (p.Val250Met) single nucleotide variant not provided [RCV002003821] Chr1:162759872 [GRCh38]
Chr1:162729662 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2162A>G (p.Asn721Ser) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV002482756]|not provided [RCV001891816] Chr1:162776249 [GRCh38]
Chr1:162746039 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1352C>T (p.Ser451Phe) single nucleotide variant not provided [RCV001966933] Chr1:162770360 [GRCh38]
Chr1:162740150 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1432C>T (p.Arg478Cys) single nucleotide variant not provided [RCV001946176] Chr1:162770440 [GRCh38]
Chr1:162740230 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331) copy number loss not specified [RCV002053680] Chr1:162330810..171532331 [GRCh37]
Chr1:1q23.3-24.3
pathogenic
NM_006182.4(DDR2):c.2042C>T (p.Thr681Ile) single nucleotide variant not provided [RCV001984902] Chr1:162775837 [GRCh38]
Chr1:162745627 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.397C>T (p.Arg133Trp) single nucleotide variant not provided [RCV001987218] Chr1:162754835 [GRCh38]
Chr1:162724625 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2551C>T (p.Gln851Ter) single nucleotide variant not provided [RCV002041519] Chr1:162780229 [GRCh38]
Chr1:162750019 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1411T>G (p.Tyr471Asp) single nucleotide variant not provided [RCV001969794] Chr1:162770419 [GRCh38]
Chr1:162740209 [GRCh37]
Chr1:1q23.3
uncertain significance
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) copy number loss not specified [RCV002053658] Chr1:160417296..166197042 [GRCh37]
Chr1:1q23.2-24.1
pathogenic
NM_006182.4(DDR2):c.111del (p.Gly38fs) deletion not provided [RCV002002409] Chr1:162753123 [GRCh38]
Chr1:162722913 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.2563G>A (p.Glu855Lys) single nucleotide variant not provided [RCV001941417] Chr1:162780241 [GRCh38]
Chr1:162750031 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2140C>T (p.Arg714Ter) single nucleotide variant not provided [RCV001963171] Chr1:162776227 [GRCh38]
Chr1:162746017 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.2002C>T (p.Arg668Cys) single nucleotide variant not provided [RCV002048083] Chr1:162775797 [GRCh38]
Chr1:162745587 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2424A>C (p.Gln808His) single nucleotide variant not provided [RCV001932709] Chr1:162778720 [GRCh38]
Chr1:162748510 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.518C>G (p.Ser173Cys) single nucleotide variant not provided [RCV002012044] Chr1:162755256 [GRCh38]
Chr1:162725046 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1512C>A (p.Ser504Arg) single nucleotide variant not provided [RCV001994165] Chr1:162772031 [GRCh38]
Chr1:162741821 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.120G>T (p.Gln40His) single nucleotide variant not provided [RCV002015961] Chr1:162753132 [GRCh38]
Chr1:162722922 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1480T>A (p.Phe494Ile) single nucleotide variant not provided [RCV001897770] Chr1:162770488 [GRCh38]
Chr1:162740278 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.428G>A (p.Gly143Glu) single nucleotide variant not provided [RCV001877862] Chr1:162755166 [GRCh38]
Chr1:162724956 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2175G>T (p.Lys725Asn) single nucleotide variant not provided [RCV001885438] Chr1:162776262 [GRCh38]
Chr1:162746052 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2471T>C (p.Val824Ala) single nucleotide variant not provided [RCV001958360] Chr1:162780149 [GRCh38]
Chr1:162749939 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1288G>A (p.Glu430Lys) single nucleotide variant not provided [RCV001901574] Chr1:162767354 [GRCh38]
Chr1:162737144 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.440C>T (p.Pro147Leu) single nucleotide variant not provided [RCV001878931] Chr1:162755178 [GRCh38]
Chr1:162724968 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1474C>T (p.Pro492Ser) single nucleotide variant not provided [RCV002017625] Chr1:162770482 [GRCh38]
Chr1:162740272 [GRCh37]
Chr1:1q23.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006182.4(DDR2):c.1818T>A (p.Ala606=) single nucleotide variant not provided [RCV001938867] Chr1:162773558 [GRCh38]
Chr1:162743348 [GRCh37]
Chr1:1q23.3
likely benign|uncertain significance
NM_006182.4(DDR2):c.1418G>A (p.Arg473His) single nucleotide variant not provided [RCV001917884] Chr1:162770426 [GRCh38]
Chr1:162740216 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1293+3G>A single nucleotide variant not provided [RCV001934190] Chr1:162767362 [GRCh38]
Chr1:162737152 [GRCh37]
Chr1:1q23.3
uncertain significance
NC_000001.10:g.(?_158581054)_(162750036_?)dup duplication Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3
uncertain significance|no classifications from unflagged records
NM_006182.4(DDR2):c.832A>G (p.Ile278Val) single nucleotide variant Inborn genetic diseases [RCV004611987]|not provided [RCV001919050] Chr1:162759956 [GRCh38]
Chr1:162729746 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.109T>A (p.Ser37Thr) single nucleotide variant not provided [RCV002013709] Chr1:162753121 [GRCh38]
Chr1:162722911 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1437T>C (p.Pro479=) single nucleotide variant not provided [RCV002104574] Chr1:162770445 [GRCh38]
Chr1:162740235 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.765C>T (p.Asp255=) single nucleotide variant not provided [RCV002108779] Chr1:162759889 [GRCh38]
Chr1:162729679 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1729-8T>C single nucleotide variant not provided [RCV002205970] Chr1:162773461 [GRCh38]
Chr1:162743251 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1089C>T (p.Thr363=) single nucleotide variant not provided [RCV002189675] Chr1:162761444 [GRCh38]
Chr1:162731234 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2284-15_2284-11del microsatellite not provided [RCV002074910] Chr1:162778559..162778563 [GRCh38]
Chr1:162748349..162748353 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2406A>C (p.Gly802=) single nucleotide variant not provided [RCV002205113] Chr1:162778702 [GRCh38]
Chr1:162748492 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1099+12A>G single nucleotide variant not provided [RCV002167257] Chr1:162761466 [GRCh38]
Chr1:162731256 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.417+13_417+14del microsatellite not provided [RCV002206791] Chr1:162754865..162754866 [GRCh38]
Chr1:162724655..162724656 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1452A>G (p.Pro484=) single nucleotide variant not provided [RCV002076510] Chr1:162770460 [GRCh38]
Chr1:162740250 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.185+19A>G single nucleotide variant not provided [RCV002173882] Chr1:162753216 [GRCh38]
Chr1:162723006 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1512C>T (p.Ser504=) single nucleotide variant not provided [RCV002125272] Chr1:162772031 [GRCh38]
Chr1:162741821 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2526C>T (p.Phe842=) single nucleotide variant not provided [RCV002211834] Chr1:162780204 [GRCh38]
Chr1:162749994 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.855+18_855+19del microsatellite not provided [RCV002195532] Chr1:162759994..162759995 [GRCh38]
Chr1:162729784..162729785 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1294-19C>T single nucleotide variant not provided [RCV002193017] Chr1:162770283 [GRCh38]
Chr1:162740073 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2048+11C>T single nucleotide variant not provided [RCV002196083] Chr1:162775854 [GRCh38]
Chr1:162745644 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1163-19C>G single nucleotide variant not provided [RCV002166168] Chr1:162767210 [GRCh38]
Chr1:162737000 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2284-11T>C single nucleotide variant not provided [RCV002149414] Chr1:162778569 [GRCh38]
Chr1:162748359 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1551G>C (p.Gly517=) single nucleotide variant not provided [RCV002134675] Chr1:162772070 [GRCh38]
Chr1:162741860 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2048+19C>T single nucleotide variant not provided [RCV002134771] Chr1:162775862 [GRCh38]
Chr1:162745652 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.83-17G>C single nucleotide variant not provided [RCV002133563] Chr1:162753078 [GRCh38]
Chr1:162722868 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.417+14A>C single nucleotide variant not provided [RCV002157086] Chr1:162754869 [GRCh38]
Chr1:162724659 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.444T>C (p.Tyr148=) single nucleotide variant DDR2-related disorder [RCV003950965]|not provided [RCV002220538] Chr1:162755182 [GRCh38]
Chr1:162724972 [GRCh37]
Chr1:1q23.3
benign|likely benign
NM_006182.4(DDR2):c.855+13G>A single nucleotide variant not provided [RCV002198487] Chr1:162759992 [GRCh38]
Chr1:162729782 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1099+17C>T single nucleotide variant not provided [RCV002120833] Chr1:162761471 [GRCh38]
Chr1:162731261 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2283+17T>C single nucleotide variant not provided [RCV002219894] Chr1:162776387 [GRCh38]
Chr1:162746177 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1881G>A (p.Lys627=) single nucleotide variant not provided [RCV002180701] Chr1:162775676 [GRCh38]
Chr1:162745466 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.159A>G (p.Ser53=) single nucleotide variant not provided [RCV002120777] Chr1:162753171 [GRCh38]
Chr1:162722961 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2283+17T>G single nucleotide variant not provided [RCV002202767] Chr1:162776387 [GRCh38]
Chr1:162746177 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1729-17A>G single nucleotide variant not provided [RCV002157728] Chr1:162773452 [GRCh38]
Chr1:162743242 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1158C>T (p.Thr386=) single nucleotide variant not provided [RCV002218914] Chr1:162766059 [GRCh38]
Chr1:162735849 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.757G>A (p.Gly253Ser) single nucleotide variant not provided [RCV003116871] Chr1:162759881 [GRCh38]
Chr1:162729671 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.470C>T (p.Pro157Leu) single nucleotide variant not provided [RCV003112515] Chr1:162755208 [GRCh38]
Chr1:162724998 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1728+293A>G single nucleotide variant Lung adenocarcinoma [RCV003129668] Chr1:162772540 [GRCh38]
Chr1:162742330 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1294-109C>T single nucleotide variant Lung adenocarcinoma [RCV003129669] Chr1:162770193 [GRCh38]
Chr1:162739983 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2454C>G (p.Ala818=) single nucleotide variant Connective tissue disorder [RCV002278713] Chr1:162780132 [GRCh38]
Chr1:162749922 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2323G>T (p.Val775Phe) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV002279764] Chr1:162778619 [GRCh38]
Chr1:162748409 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_006182.4(DDR2):c.418G>T (p.Val140Leu) single nucleotide variant Connective tissue disorder [RCV002278714] Chr1:162755156 [GRCh38]
Chr1:162724946 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1421T>C (p.Ile474Thr) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV003147751]|not specified [RCV002282879] Chr1:162770429 [GRCh38]
Chr1:162740219 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2434-59G>A single nucleotide variant Lung adenocarcinoma [RCV003129618] Chr1:162780053 [GRCh38]
Chr1:162749843 [GRCh37]
Chr1:1q23.3
benign
GRCh37/hg19 1q23.3(chr1:161924068-164761399)x1 copy number loss not provided [RCV002474557] Chr1:161924068..164761399 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_006182.4(DDR2):c.844A>C (p.Thr282Pro) single nucleotide variant not provided [RCV002296847] Chr1:162759968 [GRCh38]
Chr1:162729758 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.788G>A (p.Ser263Asn) single nucleotide variant not provided [RCV002295839] Chr1:162759912 [GRCh38]
Chr1:162729702 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.704G>T (p.Gly235Val) single nucleotide variant not provided [RCV002296162] Chr1:162759828 [GRCh38]
Chr1:162729618 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.956C>T (p.Ser319Phe) single nucleotide variant not provided [RCV002751446] Chr1:162761311 [GRCh38]
Chr1:162731101 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1665G>A (p.Val555=) single nucleotide variant not provided [RCV002861932] Chr1:162772184 [GRCh38]
Chr1:162741974 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.671+20A>T single nucleotide variant not provided [RCV002775562] Chr1:162755789 [GRCh38]
Chr1:162725579 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.772G>A (p.Gly258Ser) single nucleotide variant not provided [RCV002843812] Chr1:162759896 [GRCh38]
Chr1:162729686 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2417G>A (p.Arg806Gln) single nucleotide variant not provided [RCV002975132] Chr1:162778713 [GRCh38]
Chr1:162748503 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.768T>A (p.Tyr256Ter) single nucleotide variant not provided [RCV003034278] Chr1:162759892 [GRCh38]
Chr1:162729682 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.336C>T (p.Ile112=) single nucleotide variant not provided [RCV002904524] Chr1:162754774 [GRCh38]
Chr1:162724564 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.247C>G (p.Leu83Val) single nucleotide variant not provided [RCV002837748] Chr1:162754685 [GRCh38]
Chr1:162724475 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.431A>G (p.Asn144Ser) single nucleotide variant Inborn genetic diseases [RCV002861064] Chr1:162755169 [GRCh38]
Chr1:162724959 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1170G>C (p.Met390Ile) single nucleotide variant Inborn genetic diseases [RCV002622149]|not provided [RCV002614471] Chr1:162767236 [GRCh38]
Chr1:162737026 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.192C>A (p.Asp64Glu) single nucleotide variant Inborn genetic diseases [RCV002732832] Chr1:162754630 [GRCh38]
Chr1:162724420 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1406C>T (p.Ser469Leu) single nucleotide variant not provided [RCV002618035] Chr1:162770414 [GRCh38]
Chr1:162740204 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1892G>A (p.Arg631Gln) single nucleotide variant not provided [RCV002663174] Chr1:162775687 [GRCh38]
Chr1:162745477 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.856-13C>T single nucleotide variant not provided [RCV003019929] Chr1:162761198 [GRCh38]
Chr1:162730988 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2012C>T (p.Pro671Leu) single nucleotide variant Inborn genetic diseases [RCV002953711]|not provided [RCV002953710] Chr1:162775807 [GRCh38]
Chr1:162745597 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.847A>G (p.Thr283Ala) single nucleotide variant not provided [RCV002659376] Chr1:162759971 [GRCh38]
Chr1:162729761 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1799A>G (p.Asn600Ser) single nucleotide variant Inborn genetic diseases [RCV002869420] Chr1:162773539 [GRCh38]
Chr1:162743329 [GRCh37]
Chr1:1q23.3
uncertain significance
NC_000001.11:g.162775664_162775665insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAATGATTTTCTT insertion not provided [RCV002820499] Chr1:162775650..162775651 [GRCh38]
Chr1:162745440..162745441 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.1376C>T (p.Ser459Phe) single nucleotide variant not provided [RCV002570044] Chr1:162770384 [GRCh38]
Chr1:162740174 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1021C>T (p.Arg341Ter) single nucleotide variant not provided [RCV002780704] Chr1:162761376 [GRCh38]
Chr1:162731166 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.1560C>T (p.His520=) single nucleotide variant not provided [RCV003002353] Chr1:162772079 [GRCh38]
Chr1:162741869 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.950C>A (p.Ala317Asp) single nucleotide variant not provided [RCV002975915] Chr1:162761305 [GRCh38]
Chr1:162731095 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1213T>C (p.Leu405=) single nucleotide variant not provided [RCV002619593] Chr1:162767279 [GRCh38]
Chr1:162737069 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2261T>C (p.Met754Thr) single nucleotide variant not provided [RCV003020777] Chr1:162776348 [GRCh38]
Chr1:162746138 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1626C>T (p.Ala542=) single nucleotide variant not provided [RCV002948613] Chr1:162772145 [GRCh38]
Chr1:162741935 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2283+12G>C single nucleotide variant not provided [RCV003019041] Chr1:162776382 [GRCh38]
Chr1:162746172 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1404C>T (p.Asn468=) single nucleotide variant not provided [RCV002659530] Chr1:162770412 [GRCh38]
Chr1:162740202 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1857-19A>G single nucleotide variant not provided [RCV002766757] Chr1:162775633 [GRCh38]
Chr1:162745423 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.103G>A (p.Gly35Ser) single nucleotide variant not provided [RCV002919074] Chr1:162753115 [GRCh38]
Chr1:162722905 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1421T>A (p.Ile474Asn) single nucleotide variant Inborn genetic diseases [RCV002665013] Chr1:162770429 [GRCh38]
Chr1:162740219 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2057A>G (p.Asn686Ser) single nucleotide variant Inborn genetic diseases [RCV002595688]|not provided [RCV002606191] Chr1:162776144 [GRCh38]
Chr1:162745934 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.398G>A (p.Arg133Gln) single nucleotide variant not provided [RCV002710962] Chr1:162754836 [GRCh38]
Chr1:162724626 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1530C>T (p.Val510=) single nucleotide variant not provided [RCV002574819] Chr1:162772049 [GRCh38]
Chr1:162741839 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.979G>A (p.Val327Ile) single nucleotide variant Inborn genetic diseases [RCV003164763]|not provided [RCV002574973] Chr1:162761334 [GRCh38]
Chr1:162731124 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.971T>C (p.Leu324Pro) single nucleotide variant not provided [RCV002914523] Chr1:162761326 [GRCh38]
Chr1:162731116 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1969A>T (p.Met657Leu) single nucleotide variant not provided [RCV002710372] Chr1:162775764 [GRCh38]
Chr1:162745554 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1162+13C>T single nucleotide variant not provided [RCV002625877] Chr1:162766076 [GRCh38]
Chr1:162735866 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2038C>G (p.Arg680Gly) single nucleotide variant Inborn genetic diseases [RCV002929470] Chr1:162775833 [GRCh38]
Chr1:162745623 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.578C>A (p.Ser193Tyr) single nucleotide variant not provided [RCV002876152] Chr1:162755676 [GRCh38]
Chr1:162725466 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.190G>T (p.Asp64Tyr) single nucleotide variant Inborn genetic diseases [RCV002712836] Chr1:162754628 [GRCh38]
Chr1:162724418 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.897T>C (p.Phe299=) single nucleotide variant not provided [RCV002765959] Chr1:162761252 [GRCh38]
Chr1:162731042 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2224C>T (p.Arg742Trp) single nucleotide variant Inborn genetic diseases [RCV004614290]|not provided [RCV002963031] Chr1:162776311 [GRCh38]
Chr1:162746101 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.918C>A (p.Phe306Leu) single nucleotide variant Inborn genetic diseases [RCV002813585] Chr1:162761273 [GRCh38]
Chr1:162731063 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2368T>A (p.Ser790Thr) single nucleotide variant Inborn genetic diseases [RCV002940831] Chr1:162778664 [GRCh38]
Chr1:162748454 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.984C>T (p.Asn328=) single nucleotide variant not provided [RCV003065579] Chr1:162761339 [GRCh38]
Chr1:162731129 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2369C>A (p.Ser790Tyr) single nucleotide variant Inborn genetic diseases [RCV002921376] Chr1:162778665 [GRCh38]
Chr1:162748455 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2553A>G (p.Gln851=) single nucleotide variant not provided [RCV002898907] Chr1:162780231 [GRCh38]
Chr1:162750021 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.274C>T (p.His92Tyr) single nucleotide variant Inborn genetic diseases [RCV002747261] Chr1:162754712 [GRCh38]
Chr1:162724502 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.82+9G>A single nucleotide variant not provided [RCV002646240] Chr1:162719154 [GRCh38]
Chr1:162688944 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.677C>G (p.Thr226Arg) single nucleotide variant not provided [RCV002671594] Chr1:162759801 [GRCh38]
Chr1:162729591 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1729-6G>A single nucleotide variant not provided [RCV003029785] Chr1:162773463 [GRCh38]
Chr1:162743253 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1162+14C>T single nucleotide variant not provided [RCV002600243] Chr1:162766077 [GRCh38]
Chr1:162735867 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1599A>G (p.Thr533=) single nucleotide variant not provided [RCV002720432] Chr1:162772118 [GRCh38]
Chr1:162741908 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.729C>T (p.Thr243=) single nucleotide variant not provided [RCV002577380] Chr1:162759853 [GRCh38]
Chr1:162729643 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1371C>A (p.Asn457Lys) single nucleotide variant not provided [RCV002671165] Chr1:162770379 [GRCh38]
Chr1:162740169 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.829C>T (p.Arg277Cys) single nucleotide variant not provided [RCV002658036] Chr1:162759953 [GRCh38]
Chr1:162729743 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2209A>C (p.Ser737Arg) single nucleotide variant not provided [RCV002725643] Chr1:162776296 [GRCh38]
Chr1:162746086 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.28G>A (p.Val10Met) single nucleotide variant not provided [RCV003068360] Chr1:162719091 [GRCh38]
Chr1:162688881 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1128C>T (p.Ala376=) single nucleotide variant not provided [RCV002606910] Chr1:162766029 [GRCh38]
Chr1:162735819 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2048+8A>G single nucleotide variant not provided [RCV002635040] Chr1:162775851 [GRCh38]
Chr1:162745641 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1045C>T (p.Gln349Ter) single nucleotide variant not provided [RCV003071241] Chr1:162761400 [GRCh38]
Chr1:162731190 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.882A>C (p.Lys294Asn) single nucleotide variant not provided [RCV002611946] Chr1:162761237 [GRCh38]
Chr1:162731027 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2142A>G (p.Arg714=) single nucleotide variant not provided [RCV002612148] Chr1:162776229 [GRCh38]
Chr1:162746019 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.310G>C (p.Gly104Arg) single nucleotide variant not provided [RCV003146023] Chr1:162754748 [GRCh38]
Chr1:162724538 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.85A>G (p.Ile29Val) single nucleotide variant Inborn genetic diseases [RCV003220820] Chr1:162753097 [GRCh38]
Chr1:162722887 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.512A>G (p.Asp171Gly) single nucleotide variant not provided [RCV003146024] Chr1:162755250 [GRCh38]
Chr1:162725040 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.779G>A (p.Arg260Gln) single nucleotide variant not specified [RCV003324147] Chr1:162759903 [GRCh38]
Chr1:162729693 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.936G>A (p.Glu312=) single nucleotide variant not provided [RCV003880288] Chr1:162761291 [GRCh38]
Chr1:162731081 [GRCh37]
Chr1:1q23.3
likely benign
GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 copy number loss not provided [RCV003483944] Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3
likely pathogenic
NM_006182.4(DDR2):c.1908C>T (p.Asn636=) single nucleotide variant not provided [RCV003714814] Chr1:162775703 [GRCh38]
Chr1:162745493 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.417+1G>T single nucleotide variant not provided [RCV003579269] Chr1:162754856 [GRCh38]
Chr1:162724646 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_006182.4(DDR2):c.507C>T (p.Val169=) single nucleotide variant not provided [RCV003545164] Chr1:162755245 [GRCh38]
Chr1:162725035 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2408_2409del (p.Glu803fs) microsatellite not provided [RCV003576712] Chr1:162778701..162778702 [GRCh38]
Chr1:162748491..162748492 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.57T>C (p.Ser19=) single nucleotide variant not provided [RCV003690936] Chr1:162719120 [GRCh38]
Chr1:162688910 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.417G>A (p.Gln139=) single nucleotide variant not provided [RCV003880508] Chr1:162754855 [GRCh38]
Chr1:162724645 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.83-15T>A single nucleotide variant not provided [RCV003878222] Chr1:162753080 [GRCh38]
Chr1:162722870 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.565+1G>A single nucleotide variant not provided [RCV003575284] Chr1:162755304 [GRCh38]
Chr1:162725094 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_006182.4(DDR2):c.855+12C>T single nucleotide variant not provided [RCV003693840] Chr1:162759991 [GRCh38]
Chr1:162729781 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2151A>G (p.Leu717=) single nucleotide variant not provided [RCV003878983] Chr1:162776238 [GRCh38]
Chr1:162746028 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1260C>T (p.Leu420=) single nucleotide variant not provided [RCV003856108] Chr1:162767326 [GRCh38]
Chr1:162737116 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.681del (p.Gly228_Leu229insTer) deletion not provided [RCV003559994] Chr1:162759804 [GRCh38]
Chr1:162729594 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.831C>T (p.Arg277=) single nucleotide variant not provided [RCV003580152] Chr1:162759955 [GRCh38]
Chr1:162729745 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2160G>A (p.Lys720=) single nucleotide variant not provided [RCV003568853] Chr1:162776247 [GRCh38]
Chr1:162746037 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2427G>A (p.Gly809=) single nucleotide variant not provided [RCV003566824] Chr1:162778723 [GRCh38]
Chr1:162748513 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1941T>C (p.Asp647=) single nucleotide variant not provided [RCV003680826] Chr1:162775736 [GRCh38]
Chr1:162745526 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1529T>C (p.Val510Ala) single nucleotide variant not provided [RCV003734363] Chr1:162772048 [GRCh38]
Chr1:162741838 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1095A>G (p.Gln365=) single nucleotide variant not provided [RCV003872415] Chr1:162761450 [GRCh38]
Chr1:162731240 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.417+13G>C single nucleotide variant not provided [RCV003818399] Chr1:162754868 [GRCh38]
Chr1:162724658 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2562C>T (p.Asp854=) single nucleotide variant not provided [RCV003737459] Chr1:162780240 [GRCh38]
Chr1:162750030 [GRCh37]
Chr1:1q23.3
benign
NM_006182.4(DDR2):c.1764C>T (p.Phe588=) single nucleotide variant not provided [RCV003555554] Chr1:162773504 [GRCh38]
Chr1:162743294 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.2212G>A (p.Gly738Ser) single nucleotide variant Inborn genetic diseases [RCV004375630] Chr1:162776299 [GRCh38]
Chr1:162746089 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2516G>A (p.Arg839His) single nucleotide variant Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [RCV003993619] Chr1:162780194 [GRCh38]
Chr1:162749984 [GRCh37]
Chr1:1q23.3
likely pathogenic
NM_006182.4(DDR2):c.1753A>G (p.Met585Val) single nucleotide variant Inborn genetic diseases [RCV004375628] Chr1:162773493 [GRCh38]
Chr1:162743283 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1435C>T (p.Pro479Ser) single nucleotide variant Inborn genetic diseases [RCV004375627] Chr1:162770443 [GRCh38]
Chr1:162740233 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.2007C>A (p.His669Gln) single nucleotide variant Inborn genetic diseases [RCV004375629] Chr1:162775802 [GRCh38]
Chr1:162745592 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.721G>A (p.Asp241Asn) single nucleotide variant Inborn genetic diseases [RCV004375631] Chr1:162759845 [GRCh38]
Chr1:162729635 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1677C>T (p.Pro559=) single nucleotide variant DDR2-related disorder [RCV003963999] Chr1:162772196 [GRCh38]
Chr1:162741986 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.*8A>G single nucleotide variant DDR2-related disorder [RCV003966820] Chr1:162780254 [GRCh38]
Chr1:162750044 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1379C>T (p.Ser460Leu) single nucleotide variant DDR2-related disorder [RCV003911730] Chr1:162770387 [GRCh38]
Chr1:162740177 [GRCh37]
Chr1:1q23.3
uncertain significance
NM_006182.4(DDR2):c.1227C>A (p.Ile409=) single nucleotide variant DDR2-related disorder [RCV003977148] Chr1:162767293 [GRCh38]
Chr1:162737083 [GRCh37]
Chr1:1q23.3
likely benign
NM_006182.4(DDR2):c.1674C>T (p.Phe558=) single nucleotide variant DDR2-related disorder [RCV003971572] Chr1:162772193 [GRCh38]
Chr1:162741983 [GRCh37]
Chr1:1q23.3
likely benign
NC_000001.10:g.(?_162740256)_(162757423_?)del deletion not provided [RCV004579139] Chr1:162740256..162757423 [GRCh37]
Chr1:1q23.3
pathogenic
NM_006182.4(DDR2):c.2005C>T (p.His669Tyr) single nucleotide variant Inborn genetic diseases [RCV004611571] Chr1:162775800 [GRCh38]
Chr1:162745590 [GRCh37]
Chr1:1q23.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3090
Count of miRNA genes:1200
Interacting mature miRNAs:1483
Transcripts:ENST00000367921, ENST00000367922, ENST00000415555, ENST00000433757, ENST00000446985, ENST00000458105
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
407090119GWAS739095_HDupuytren Contracture QTL GWAS739095 (human)3e-12Dupuytren Contracture1162651183162651184Human
406982948GWAS631924_Hcervical carcinoma QTL GWAS631924 (human)0.0000004cervical carcinoma1162660256162660257Human
407336896GWAS985872_Hleukocyte count QTL GWAS985872 (human)3e-09leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)1162763446162763447Human
406919209GWAS568185_Hbody height QTL GWAS568185 (human)6e-09body height (VT:0001253)body height (CMO:0000106)1162634091162634092Human
407066922GWAS715898_HDupuytren Contracture QTL GWAS715898 (human)2e-10Dupuytren Contracture1162702221162702222Human
407046927GWAS695903_Hprotein measurement QTL GWAS695903 (human)8e-12protein measurement1162652609162652610Human
407310347GWAS959323_Hbody height QTL GWAS959323 (human)5e-13body height (VT:0001253)body height (CMO:0000106)1162688693162688694Human
407337737GWAS986713_Heducational attainment QTL GWAS986713 (human)4e-10educational attainment1162692103162692104Human
1357381BW57_HBody weight QTL 57 (human)10.0001Body weightfat free mass after exercise training1140630236166630236Human
407045585GWAS694561_Hopen-angle glaucoma QTL GWAS694561 (human)0.0000006open-angle glaucoma1162698218162698219Human
407128694GWAS777670_HDupuytren Contracture QTL GWAS777670 (human)3e-13Dupuytren Contracture1162699986162699987Human
407045015GWAS693991_Hopen-angle glaucoma QTL GWAS693991 (human)7e-09open-angle glaucoma1162698218162698219Human
407107191GWAS756167_Hprotein measurement QTL GWAS756167 (human)5e-10protein measurement1162652609162652610Human
406991957GWAS640933_Hserum alanine aminotransferase measurement, response to combination chemotherapy QTL GWAS640933 (human)0.000002serum alanine aminotransferase measurement, response to combination chemotherapyserum alanine aminotransferase activity level (CMO:0000575)1162767290162767291Human
406990970GWAS639946_Hleukocyte count QTL GWAS639946 (human)2e-19leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)1162721669162721670Human
407014139GWAS663115_Hbody height QTL GWAS663115 (human)6e-08body height (VT:0001253)body height (CMO:0000106)1162648362162648363Human
407293884GWAS942860_HSLAM family member 7 measurement QTL GWAS942860 (human)2e-11SLAM family member 7 measurement1162757178162757179Human
407094456GWAS743432_Hchoroidal melanoma QTL GWAS743432 (human)0.000001choroidal melanoma1162639948162639949Human
407270682GWAS919658_Hbody height QTL GWAS919658 (human)2e-36body height (VT:0001253)body height (CMO:0000106)1162688983162688984Human
406990143GWAS639119_Hbody height QTL GWAS639119 (human)1e-08body height (VT:0001253)body height (CMO:0000106)1162688983162688984Human
407040220GWAS689196_Hopen-angle glaucoma QTL GWAS689196 (human)4e-08open-angle glaucoma1162700674162700675Human

Markers in Region
D1S2434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,713,807 - 162,714,021UniSTSGRCh37
Build 361160,980,431 - 160,980,645RGDNCBI36
Celera1135,817,909 - 135,818,123RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,958,929 - 133,959,143UniSTS
Whitehead-YAC Contig Map1 UniSTS
L18077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,631,818 - 162,632,072UniSTSGRCh37
Build 361160,898,442 - 160,898,696RGDNCBI36
Celera1135,734,894 - 135,735,148RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,876,908 - 133,877,162UniSTS
RH65150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371038,638,594 - 38,638,767UniSTSGRCh37
GRCh371162,753,795 - 162,753,968UniSTSGRCh37
Build 361161,020,419 - 161,020,592RGDNCBI36
Celera1135,857,867 - 135,858,040RGD
Celera1038,409,640 - 38,409,813UniSTS
Cytogenetic Map1q23.3UniSTS
HuRef1038,347,056 - 38,347,229UniSTS
HuRef1133,998,900 - 133,999,073UniSTS
RH66899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371038,641,001 - 38,641,122UniSTSGRCh37
GRCh371162,756,197 - 162,756,318UniSTSGRCh37
Build 361161,022,821 - 161,022,942RGDNCBI36
Celera1135,860,267 - 135,860,388RGD
Celera1038,412,040 - 38,412,161UniSTS
Cytogenetic Map1q23.3UniSTS
HuRef1038,349,464 - 38,349,585UniSTS
HuRef1134,001,302 - 134,001,423UniSTS
PMC112259P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,724,540 - 162,725,069UniSTSGRCh37
Build 361160,991,164 - 160,991,693RGDNCBI36
Celera1135,828,642 - 135,829,171RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,969,662 - 133,970,191UniSTS
D1S2420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371162,750,094 - 162,750,203UniSTSGRCh37
Build 361161,016,718 - 161,016,827RGDNCBI36
Celera1135,854,170 - 135,854,279RGD
Cytogenetic Map1q23.3UniSTS
HuRef1133,995,203 - 133,995,312UniSTS
GeneMap99-GB4 RH Map1596.54UniSTS
Whitehead-RH Map1735.4UniSTS
Whitehead-YAC Contig Map1 UniSTS
G34973  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371038,641,001 - 38,641,122UniSTSGRCh37
GRCh371162,756,197 - 162,756,318UniSTSGRCh37
Celera1135,860,267 - 135,860,388UniSTS
Celera1038,412,040 - 38,412,161UniSTS
Cytogenetic Map1q23.3UniSTS
HuRef1038,349,464 - 38,349,585UniSTS
HuRef1134,001,302 - 134,001,423UniSTS


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 2434 2788 2251 4967 1726 2350 5 623 1936 465 2269 7284 6455 53 3728 1 851 1743 1615 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001014796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA148473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF268386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL596325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY423733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY871271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF994640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA852104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA919943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000367921   ⟹   ENSP00000356898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,632,464 - 162,787,405 (+)Ensembl
Ensembl Acc Id: ENST00000367922   ⟹   ENSP00000356899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,632,465 - 162,787,400 (+)Ensembl
Ensembl Acc Id: ENST00000415555   ⟹   ENSP00000391310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,632,011 - 162,755,182 (+)Ensembl
Ensembl Acc Id: ENST00000433757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,767,290 - 162,772,435 (+)Ensembl
Ensembl Acc Id: ENST00000446985   ⟹   ENSP00000400309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,631,373 - 162,780,410 (+)Ensembl
Ensembl Acc Id: ENST00000458105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,767,237 - 162,770,736 (+)Ensembl
Ensembl Acc Id: ENST00000671979   ⟹   ENSP00000500822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,631,946 - 162,753,167 (+)Ensembl
Ensembl Acc Id: ENST00000672207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,632,437 - 162,770,894 (+)Ensembl
Ensembl Acc Id: ENST00000673239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1162,632,446 - 162,719,062 (+)Ensembl
RefSeq Acc Id: NM_001014796   ⟹   NP_001014796
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,632,464 - 162,787,405 (+)NCBI
GRCh371162,602,228 - 162,756,409 (+)NCBI
Build 361160,868,852 - 161,016,879 (+)NCBI Archive
HuRef1133,847,299 - 133,995,362 (+)ENTREZGENE
CHM1_11164,024,739 - 164,172,823 (+)NCBI
T2T-CHM13v2.01161,976,477 - 162,131,644 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354982   ⟹   NP_001341911
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,631,975 - 162,787,405 (+)NCBI
T2T-CHM13v2.01161,975,988 - 162,131,644 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354983   ⟹   NP_001341912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,630,863 - 162,787,405 (+)NCBI
T2T-CHM13v2.01161,974,884 - 162,131,644 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006182   ⟹   NP_006173
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,632,464 - 162,787,405 (+)NCBI
GRCh371162,602,228 - 162,756,409 (+)NCBI
Build 361160,868,852 - 161,016,879 (+)NCBI Archive
HuRef1133,847,299 - 133,995,362 (+)ENTREZGENE
CHM1_11164,024,739 - 164,172,823 (+)NCBI
T2T-CHM13v2.01161,976,477 - 162,131,644 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509587   ⟹   XP_011507889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,631,975 - 162,787,405 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509588   ⟹   XP_011507890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,632,464 - 162,771,138 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421554   ⟹   XP_047277510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,630,863 - 162,787,405 (+)NCBI
RefSeq Acc Id: XM_047421565   ⟹   XP_047277521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,632,464 - 162,787,405 (+)NCBI
RefSeq Acc Id: XM_054336802   ⟹   XP_054192777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01161,974,889 - 162,131,644 (+)NCBI
RefSeq Acc Id: XM_054336803   ⟹   XP_054192778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01161,975,988 - 162,131,644 (+)NCBI
RefSeq Acc Id: XM_054336804   ⟹   XP_054192779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01161,976,477 - 162,131,644 (+)NCBI
RefSeq Acc Id: XM_054336805   ⟹   XP_054192780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01161,976,477 - 162,116,248 (+)NCBI
RefSeq Acc Id: NP_001014796   ⟸   NM_001014796
- Peptide Label: precursor
- UniProtKB: Q7Z730 (UniProtKB/Swiss-Prot),   Q16832 (UniProtKB/Swiss-Prot),   Q6MZT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006173   ⟸   NM_006182
- Peptide Label: precursor
- UniProtKB: Q7Z730 (UniProtKB/Swiss-Prot),   Q16832 (UniProtKB/Swiss-Prot),   Q6MZT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507889   ⟸   XM_011509587
- Peptide Label: isoform X1
- UniProtKB: Q7Z730 (UniProtKB/Swiss-Prot),   Q16832 (UniProtKB/Swiss-Prot),   Q6MZT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507890   ⟸   XM_011509588
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001341912   ⟸   NM_001354983
- Peptide Label: precursor
- UniProtKB: Q16832 (UniProtKB/Swiss-Prot),   Q7Z730 (UniProtKB/Swiss-Prot),   Q6MZT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341911   ⟸   NM_001354982
- Peptide Label: precursor
- UniProtKB: Q16832 (UniProtKB/Swiss-Prot),   Q7Z730 (UniProtKB/Swiss-Prot),   Q6MZT2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000391310   ⟸   ENST00000415555
Ensembl Acc Id: ENSP00000356899   ⟸   ENST00000367922
Ensembl Acc Id: ENSP00000356898   ⟸   ENST00000367921
Ensembl Acc Id: ENSP00000400309   ⟸   ENST00000446985
Ensembl Acc Id: ENSP00000500822   ⟸   ENST00000671979
RefSeq Acc Id: XP_047277510   ⟸   XM_047421554
- Peptide Label: isoform X1
- UniProtKB: Q16832 (UniProtKB/Swiss-Prot),   Q7Z730 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277521   ⟸   XM_047421565
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054192777   ⟸   XM_054336802
- Peptide Label: isoform X1
- UniProtKB: Q16832 (UniProtKB/Swiss-Prot),   Q7Z730 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054192778   ⟸   XM_054336803
- Peptide Label: isoform X1
- UniProtKB: Q16832 (UniProtKB/Swiss-Prot),   Q7Z730 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054192779   ⟸   XM_054336804
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054192780   ⟸   XM_054336805
- Peptide Label: isoform X3
Protein Domains
F5/8 type C   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16832-F1-model_v2 AlphaFold Q16832 1-855 view protein structure

Promoters
RGD ID:6785011
Promoter ID:HG_KWN:5912
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000097652
Position:
Human AssemblyChrPosition (strand)Source
Build 361160,867,161 - 160,867,661 (+)MPROMDB
RGD ID:6785010
Promoter ID:HG_KWN:5913
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_001014796,   NM_006182,   OTTHUMT00000097651
Position:
Human AssemblyChrPosition (strand)Source
Build 361160,867,446 - 160,867,946 (+)MPROMDB
RGD ID:6857938
Promoter ID:EPDNEW_H2134
Type:initiation region
Name:DDR2_2
Description:discoidin domain receptor tyrosine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2135  EPDNEW_H2136  EPDNEW_H2137  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,630,863 - 162,630,923EPDNEW
RGD ID:6857940
Promoter ID:EPDNEW_H2135
Type:initiation region
Name:DDR2_3
Description:discoidin domain receptor tyrosine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2134  EPDNEW_H2136  EPDNEW_H2137  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,631,273 - 162,631,333EPDNEW
RGD ID:6857942
Promoter ID:EPDNEW_H2136
Type:initiation region
Name:DDR2_1
Description:discoidin domain receptor tyrosine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2134  EPDNEW_H2135  EPDNEW_H2137  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,632,464 - 162,632,524EPDNEW
RGD ID:6857944
Promoter ID:EPDNEW_H2137
Type:single initiation site
Name:DDR2_4
Description:discoidin domain receptor tyrosine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2134  EPDNEW_H2135  EPDNEW_H2136  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381162,679,370 - 162,679,430EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2731 AgrOrtholog
COSMIC DDR2 COSMIC
Ensembl Genes ENSG00000162733 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000367921 ENTREZGENE
  ENST00000367921.8 UniProtKB/Swiss-Prot
  ENST00000367922 ENTREZGENE
  ENST00000367922.7 UniProtKB/Swiss-Prot
  ENST00000415555.5 UniProtKB/TrEMBL
  ENST00000446985 ENTREZGENE
  ENST00000446985.6 UniProtKB/Swiss-Prot
  ENST00000671979.1 UniProtKB/TrEMBL
  ENST00000672207 ENTREZGENE
Gene3D-CATH 2.60.120.1190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162733 GTEx
HGNC ID HGNC:2731 ENTREZGENE
Human Proteome Map DDR2 Human Proteome Map
InterPro DDR1-2_DS-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FA58C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RTK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_rcpt_2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4921 UniProtKB/Swiss-Prot
NCBI Gene 4921 ENTREZGENE
OMIM 191311 OMIM
PANTHER MULTICOPPER OXIDASE-RELATED UniProtKB/TrEMBL
  PTHR24416:SF295 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMOKE ALARM, ISOFORM D UniProtKB/TrEMBL
  TYROSINE-PROTEIN KINASE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DDR1-2_DS-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  F5_F8_type_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB DDR2 RGD, PharmGKB
PRINTS TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FA58C_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FA58C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FA58C_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RECEPTOR_TYR_KIN_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FA58C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A5F9ZI27_HUMAN UniProtKB/TrEMBL
  DDR2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5T244_HUMAN UniProtKB/TrEMBL
  Q6MZT2 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z730 ENTREZGENE
UniProt Secondary Q7Z730 UniProtKB/Swiss-Prot