STING1 (stimulator of interferon response cGAMP interactor 1) - Rat Genome Database

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Gene: STING1 (stimulator of interferon response cGAMP interactor 1) Homo sapiens
Analyze
Symbol: STING1
Name: stimulator of interferon response cGAMP interactor 1
RGD ID: 1602274
HGNC Page HGNC:27962
Description: Enables several functions, including guanyl ribonucleotide binding activity; protein homodimerization activity; and proton channel activity. Involved in several processes, including antiviral innate immune response; regulation of defense response; and regulation of gene expression. Located in several cellular components, including autophagosome; ciliary basal body; and mitochondrial outer membrane. Part of STING complex. Is active in Golgi membrane; endoplasmic reticulum membrane; and endoplasmic reticulum-Golgi intermediate compartment membrane. Implicated in STING-associated vasculopathy with onset in infancy. Biomarker of human immunodeficiency virus infectious disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: endoplasmic reticulum IFN stimulator; endoplasmic reticulum interferon stimulator; ERIS; FLJ38577; hMITA; hSTING; mediator of IRF3 activation; MITA; mitochondrial mediator of IRF3 activation; MPYS; N-terminal methionine-proline-tyrosine-serine plasma membrane tetraspanner; NET23; SAVI; stimulator of interferon genes protein; stimulator of interferon response cGAMP interactor-deltaC; stimulator of interferon response cGAMP interactor-deltaN; STING; sting 1; STING-beta; TMEM173; transmembrane protein 173
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
GRCh385139,475,533 - 139,482,758 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5139,475,533 - 139,482,935 (-)EnsemblGRCh38hg38GRCh38
GRCh375138,855,118 - 138,862,343 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365138,835,733 - 138,842,476 (-)NCBINCBI36Build 36hg18NCBI36
Celera5134,930,158 - 134,937,391 (-)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5133,997,951 - 134,005,182 (-)NCBIHuRef
CHM1_15138,287,678 - 138,294,915 (-)NCBICHM1_1
T2T-CHM13v2.05140,000,594 - 140,007,823 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Sterile Lung Inflammation Induced by Silica Exacerbates Mycobacterium tuberculosis Infection via STING-Dependent Type 2 Immunity. Benmerzoug S, etal., Cell Rep. 2019 May 28;27(9):2649-2664.e5. doi: 10.1016/j.celrep.2019.04.110.
2. Brucella abortus Triggers a cGAS-Independent STING Pathway To Induce Host Protection That Involves Guanylate-Binding Proteins and Inflammasome Activation. Costa Franco MM, etal., J Immunol. 2018 Jan 15;200(2):607-622. doi: 10.4049/jimmunol.1700725. Epub 2017 Dec 4.
3. Brucella abortus Cyclic Dinucleotides Trigger STING-Dependent Unfolded Protein Response That Favors Bacterial Replication. Guimarães ES, etal., J Immunol. 2019 May 1;202(9):2671-2681. doi: 10.4049/jimmunol.1801233. Epub 2019 Mar 20.
4. STING/MPYS mediates host defense against Listeria monocytogenes infection by regulating Ly6C(hi) monocyte migration. Jin L, etal., J Immunol. 2013 Mar 15;190(6):2835-43. doi: 10.4049/jimmunol.1201788. Epub 2013 Feb 1.
5. Nontypeable Haemophilus influenzae DNA stimulates type I interferon expression via STING signaling pathway. Lu C, etal., Biochim Biophys Acta Mol Cell Res. 2018 Apr;1865(4):665-673. doi: 10.1016/j.bbamcr.2018.01.011. Epub 2018 Feb 5.
6. The cGAS/STING Pathway Is Important for Dendritic Cell Activation but Is Not Essential to Induce Protective Immunity against Mycobacterium tuberculosis Infection. Marinho FV, etal., J Innate Immun. 2018;10(3):239-252. doi: 10.1159/000488952. Epub 2018 May 23.
7. STING is required for host defense against neuropathological West Nile virus infection. McGuckin Wuertz K, etal., PLoS Pathog. 2019 Aug 15;15(8):e1007899. doi: 10.1371/journal.ppat.1007899. eCollection 2019 Aug.
8. Upregulation of innate antiviral restricting factor expression in the cord blood and decidual tissue of HIV-infected mothers. Pereira NZ, etal., PLoS One. 2013 Dec 18;8(12):e84917. doi: 10.1371/journal.pone.0084917. eCollection 2013.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Herpesvirus-Associated Lymphadenitis Distorts Fibroblastic Reticular Cell Microarchitecture and Attenuates CD8 T Cell Responses to Neurotropic Infection in Mice Lacking the STING-IFNα/β Defense Pathways. Royer DJ, etal., J Immunol. 2016 Sep 15;197(6):2338-52. doi: 10.4049/jimmunol.1600574. Epub 2016 Aug 10.
13. The cGAS/STING Pathway Detects Streptococcus pneumoniae but Appears Dispensable for Antipneumococcal Defense in Mice and Humans. Ruiz-Moreno JS, etal., Infect Immun. 2018 Feb 20;86(3). pii: IAI.00849-17. doi: 10.1128/IAI.00849-17. Print 2018 Mar.
14. The N-ethyl-N-nitrosourea-induced Goldenticket mouse mutant reveals an essential function of Sting in the in vivo interferon response to Listeria monocytogenes and cyclic dinucleotides. Sauer JD, etal., Infect Immun. 2011 Feb;79(2):688-94. doi: 10.1128/IAI.00999-10. Epub 2010 Nov 22.
15. Obesity and STING1 genotype associate with 23-valent pneumococcal vaccination efficacy. Sebastian M, etal., JCI Insight. 2020 May 7;5(9). pii: 136141. doi: 10.1172/jci.insight.136141.
16. The role of the adaptor molecule STING during Schistosoma mansoni infection. Souza C, etal., Sci Rep. 2020 May 13;10(1):7901. doi: 10.1038/s41598-020-64788-6.
17. STING induces early IFN-β in the liver and constrains myeloid cell-mediated dissemination of murine cytomegalovirus. Tegtmeyer PK, etal., Nat Commun. 2019 Jun 27;10(1):2830. doi: 10.1038/s41467-019-10863-0.
18. Lack of immunological DNA sensing in hepatocytes facilitates hepatitis B virus infection. Thomsen MK, etal., Hepatology. 2016 Sep;64(3):746-59. doi: 10.1002/hep.28685. Epub 2016 Jul 26.
19. The GRA15 protein from Toxoplasma gondii enhances host defense responses by activating the interferon stimulator STING. Wang P, etal., J Biol Chem. 2019 Nov 8;294(45):16494-16508. doi: 10.1074/jbc.RA119.009172. Epub 2019 Aug 15.
20. Methylation status of the stimulator of interferon genes promoter in patients with chronic hepatitis B. Wu CS, etal., Medicine (Baltimore). 2018 Dec;97(52):e13904. doi: 10.1097/MD.0000000000013904.
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:15489334   PMID:17207965   PMID:18559423   PMID:18724357   PMID:18818105   PMID:19240791   PMID:19285439   PMID:19416887   PMID:19433799  
PMID:20080758   PMID:20628368   PMID:20890285   PMID:21074459   PMID:21170271   PMID:21248775   PMID:21873635   PMID:21892174   PMID:21903422   PMID:21947006   PMID:22000020   PMID:22312431  
PMID:22394560   PMID:22394562   PMID:22470840   PMID:22610502   PMID:22705373   PMID:22706339   PMID:22728658   PMID:22728659   PMID:22728660   PMID:22745133   PMID:22761576   PMID:22908223  
PMID:22911572   PMID:23055924   PMID:23478444   PMID:23542348   PMID:23585680   PMID:23631912   PMID:23707065   PMID:23722158   PMID:23747010   PMID:23910378   PMID:24116191   PMID:24119841  
PMID:24139400   PMID:24204993   PMID:24239807   PMID:24391220   PMID:24449861   PMID:24560620   PMID:24614210   PMID:24622840   PMID:24929887   PMID:25007740   PMID:25029335   PMID:25129146  
PMID:25212897   PMID:25254379   PMID:25297994   PMID:25299331   PMID:25311841   PMID:25401470   PMID:25425575   PMID:25459004   PMID:25505063   PMID:25636800   PMID:25639870   PMID:25790474  
PMID:25792739   PMID:25815785   PMID:25947293   PMID:26058929   PMID:26150511   PMID:26199418   PMID:26311870   PMID:26315534   PMID:26405230   PMID:26468527   PMID:26471009   PMID:26593864  
PMID:26603901   PMID:26656698   PMID:26669264   PMID:26738286   PMID:26867174   PMID:26893169   PMID:26980676   PMID:27125983   PMID:27190175   PMID:27234299   PMID:27302953   PMID:27324217  
PMID:27334590   PMID:27362340   PMID:27512060   PMID:27553710   PMID:27554814   PMID:27566796   PMID:27696330   PMID:27706894   PMID:27716849   PMID:27764250   PMID:27801882   PMID:27814372  
PMID:27835584   PMID:27902332   PMID:27927967   PMID:28077645   PMID:28087229   PMID:28119118   PMID:28132838   PMID:28194029   PMID:28254948   PMID:28302626   PMID:28346439   PMID:28366813  
PMID:28475463   PMID:28484079   PMID:28514442   PMID:28592536   PMID:28625530   PMID:28639100   PMID:28647346   PMID:28704551   PMID:28717041   PMID:28720717   PMID:28724326   PMID:28763789  
PMID:28806404   PMID:28939760   PMID:28947539   PMID:29106945   PMID:29135982   PMID:29143896   PMID:29251827   PMID:29263267   PMID:29263269   PMID:29298342   PMID:29317664   PMID:29367762  
PMID:29429998   PMID:29456253   PMID:29491158   PMID:29496741   PMID:29547894   PMID:29557779   PMID:29581256   PMID:29632140   PMID:29662124   PMID:29694889   PMID:29769207   PMID:29793952  
PMID:29899553   PMID:29915078   PMID:29973723   PMID:29976662   PMID:30018345   PMID:30061387   PMID:30104205   PMID:30119996   PMID:30193098   PMID:30297358   PMID:30355498   PMID:30368497  
PMID:30388174   PMID:30405246   PMID:30463579   PMID:30540941   PMID:30568238   PMID:30643259   PMID:30705050   PMID:30728498   PMID:30814308   PMID:30816302   PMID:30842659   PMID:30842662  
PMID:30886058   PMID:30919991   PMID:30943264   PMID:30952515   PMID:30975701   PMID:31026807   PMID:31056421   PMID:31118511   PMID:31121492   PMID:31177093   PMID:31221625   PMID:31332347  
PMID:31346090   PMID:31362682   PMID:31391232   PMID:31462408   PMID:31475926   PMID:31527250   PMID:31534043   PMID:31665637   PMID:31665638   PMID:31705453   PMID:31745210   PMID:31866997  
PMID:31874109   PMID:31896590   PMID:31899324   PMID:31903134   PMID:31937780   PMID:31941397   PMID:31968013   PMID:31991682   PMID:32046461   PMID:32050879   PMID:32169869   PMID:32201077  
PMID:32238587   PMID:32240121   PMID:32296183   PMID:32383759   PMID:32482869   PMID:32485908   PMID:32532954   PMID:32541831   PMID:32606244   PMID:32612200   PMID:32619407   PMID:32661021  
PMID:32668227   PMID:32673614   PMID:32678307   PMID:32690950   PMID:32725126   PMID:32725128   PMID:32753499   PMID:32763501   PMID:32768338   PMID:32788342   PMID:32796076   PMID:32812343  
PMID:32814898   PMID:32854711   PMID:32879469   PMID:32887628   PMID:32917214   PMID:32926474   PMID:33031745   PMID:33040406   PMID:33060297   PMID:33086059   PMID:33139700   PMID:33154747  
PMID:33201170   PMID:33217613   PMID:33237620   PMID:33238631   PMID:33278498   PMID:33311495   PMID:33335532   PMID:33338425   PMID:33340608   PMID:33423764   PMID:33442058   PMID:33488593  
PMID:33506611   PMID:33577080   PMID:33586948   PMID:33619537   PMID:33684697   PMID:33723219   PMID:33767426   PMID:33789998   PMID:33827917   PMID:33833439   PMID:33837956   PMID:33857420  
PMID:33858455   PMID:33875663   PMID:33906974   PMID:33913550   PMID:33927185   PMID:33961781   PMID:33964942   PMID:34033888   PMID:34078874   PMID:34079125   PMID:34131022   PMID:34138519  
PMID:34142362   PMID:34158841   PMID:34158865   PMID:34165025   PMID:34215848   PMID:34216619   PMID:34289354   PMID:34290407   PMID:34299262   PMID:34321275   PMID:34387651   PMID:34480004  
PMID:34519260   PMID:34559187   PMID:34570917   PMID:34594005   PMID:34609775   PMID:34625708   PMID:34651582   PMID:34659260   PMID:34674770   PMID:34694030   PMID:34728791   PMID:34787301  
PMID:34788017   PMID:34903048   PMID:34905508   PMID:34907606   PMID:34933455   PMID:34948027   PMID:34983824   PMID:35007563   PMID:35013224   PMID:35022513   PMID:35045565   PMID:35084749  
PMID:35099823   PMID:35104824   PMID:35107381   PMID:35125375   PMID:35133148   PMID:35199647   PMID:35281062   PMID:35281267   PMID:35388221   PMID:35429245   PMID:35450066   PMID:35467709  
PMID:35470716   PMID:35501370   PMID:35545033   PMID:35546785   PMID:35577759   PMID:35588451   PMID:35603653   PMID:35611665   PMID:35657605   PMID:35705809   PMID:35732833   PMID:35748594  
PMID:35765167   PMID:35812407   PMID:35851540   PMID:35870728   PMID:35878022   PMID:35909127   PMID:35933402   PMID:35983076   PMID:36018392   PMID:36193584   PMID:36198789   PMID:36261171  
PMID:36331797   PMID:36357379   PMID:36444630   PMID:36445063   PMID:36460853   PMID:36516451   PMID:36550103   PMID:36632700   PMID:36680267   PMID:36705629   PMID:36739287   PMID:36755358  
PMID:36872914   PMID:36876892   PMID:36878046   PMID:36918692   PMID:36926349   PMID:36928117   PMID:36972172   PMID:36976098   PMID:37000625   PMID:37002605   PMID:37013923   PMID:37023208  
PMID:37023217   PMID:37046119   PMID:37067290   PMID:37086726   PMID:37095455   PMID:37099423   PMID:37120444   PMID:37129502   PMID:37130168   PMID:37141382   PMID:37147228   PMID:37166075  
PMID:37175853   PMID:37176007   PMID:37182515   PMID:37193866   PMID:37201875   PMID:37236195   PMID:37298501   PMID:37354779   PMID:37355006   PMID:37399019   PMID:37403426   PMID:37414832  
PMID:37422930   PMID:37488750   PMID:37532932   PMID:37535724   PMID:37542528   PMID:37562849   PMID:37586363   PMID:37640708   PMID:37650295   PMID:37748723   PMID:37781035   PMID:37781920  
PMID:37788672   PMID:37802022   PMID:37827223   PMID:37830559   PMID:37832545   PMID:37833461   PMID:37882657   PMID:37907220   PMID:37914730   PMID:37931770   PMID:37945588   PMID:37948979  
PMID:37951190   PMID:37952294   PMID:37956918   PMID:37965345   PMID:37979373   PMID:38007552   PMID:38012139   PMID:38038390   PMID:38056369   PMID:38067135   PMID:38086488   PMID:38186000  
PMID:38216006   PMID:38240703   PMID:38271834   PMID:38277817   PMID:38342418   PMID:38389103   PMID:38401418   PMID:38424312   PMID:38459088   PMID:38459658   PMID:38470056   PMID:38473743  
PMID:38478117   PMID:38494142   PMID:38516268   PMID:38518595   PMID:38548966   PMID:38624230   PMID:38641125   PMID:38652662   PMID:38678779   PMID:38822901   PMID:38848887   PMID:38864771  
PMID:38878833   PMID:38917796   PMID:38926990   PMID:38932169   PMID:38962845   PMID:38971428   PMID:39004913   PMID:39023171   PMID:39053305   PMID:39107288   PMID:39113810   PMID:39114669  
PMID:39133165   PMID:39183465   PMID:39190350   PMID:39242811   PMID:39306342   PMID:39324491   PMID:39378929   PMID:39423796   PMID:39459875   PMID:39470032  


Genomics

Comparative Map Data
STING1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385139,475,533 - 139,482,758 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5139,475,533 - 139,482,935 (-)EnsemblGRCh38hg38GRCh38
GRCh375138,855,118 - 138,862,343 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365138,835,733 - 138,842,476 (-)NCBINCBI36Build 36hg18NCBI36
Celera5134,930,158 - 134,937,391 (-)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5133,997,951 - 134,005,182 (-)NCBIHuRef
CHM1_15138,287,678 - 138,294,915 (-)NCBICHM1_1
T2T-CHM13v2.05140,000,594 - 140,007,823 (-)NCBIT2T-CHM13v2.0
Sting1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391835,866,731 - 35,873,607 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1835,866,732 - 35,873,607 (-)EnsemblGRCm39 Ensembl
GRCm381835,733,678 - 35,740,554 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1835,733,679 - 35,740,554 (-)EnsemblGRCm38mm10GRCm38
MGSCv371835,893,332 - 35,900,208 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361835,859,652 - 35,866,528 (-)NCBIMGSCv36mm8
Celera1836,189,779 - 36,196,655 (-)NCBICelera
Cytogenetic Map18B2NCBI
cM Map1819.23NCBI
Sting1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81827,606,196 - 27,612,544 (-)NCBIGRCr8
mRatBN7.21827,332,119 - 27,338,371 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1827,332,119 - 27,338,335 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1827,459,541 - 27,465,793 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01828,221,584 - 28,227,830 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01827,556,463 - 27,562,709 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01828,529,537 - 28,535,828 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1828,529,576 - 28,535,828 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01828,242,119 - 28,248,371 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41828,355,029 - 28,357,171 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1827,065,352 - 27,071,596 (-)NCBICelera
Cytogenetic Map18p11NCBI
Sting1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554181,083,613 - 1,100,448 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554181,091,022 - 1,097,064 (+)NCBIChiLan1.0ChiLan1.0
STING1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24134,741,514 - 134,750,786 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15132,881,061 - 132,890,364 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05134,845,689 - 134,852,938 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15140,967,399 - 140,989,653 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5140,967,399 - 140,973,846 (-)Ensemblpanpan1.1panPan2
STING1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1234,783,947 - 34,792,204 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl234,784,232 - 34,789,072 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha231,886,015 - 31,894,282 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0235,237,857 - 35,246,124 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl235,217,688 - 35,243,000 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1232,290,300 - 32,298,567 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0233,156,814 - 33,165,081 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0233,908,726 - 33,916,993 (-)NCBIUU_Cfam_GSD_1.0
Sting1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213153,048,662 - 153,055,631 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365318,555,637 - 8,562,885 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365318,555,966 - 8,562,829 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STING1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2141,358,993 - 141,367,198 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12141,359,402 - 141,367,222 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22147,169,469 - 147,177,263 (-)NCBISscrofa10.2Sscrofa10.2susScr3
STING1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12342,153,576 - 42,160,903 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2342,153,026 - 42,160,907 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603435,727,193 - 35,734,956 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sting1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474332,273,385 - 32,283,235 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474332,277,197 - 32,283,346 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in STING1
319 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_198282.4(STING1):c.937G>A (p.Ala313Thr) single nucleotide variant Autoinflammatory syndrome [RCV002263803]|STING-associated vasculopathy with onset in infancy [RCV000543070] Chr5:139477338 [GRCh38]
Chr5:138856923 [GRCh37]
Chr5:5q31.2
benign
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3 copy number gain See cases [RCV000051862] Chr5:139151411..139493628 [GRCh38]
Chr5:138487100..138873213 [GRCh37]
Chr5:138514999..138853397 [NCBI36]
Chr5:5q31.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_198282.4(STING1):c.463G>A (p.Val155Met) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000133401]|not provided [RCV000481634] Chr5:139480847 [GRCh38]
Chr5:138860432 [GRCh37]
Chr5:5q31.2
pathogenic
NM_198282.4(STING1):c.688_689delinsTC (p.Gly230Ser) indel STING-associated vasculopathy with onset in infancy [RCV001303123] Chr5:139478340..139478341 [GRCh38]
Chr5:138857925..138857926 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.439G>C (p.Val147Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000133402] Chr5:139480871 [GRCh38]
Chr5:138860456 [GRCh37]
Chr5:5q31.2
pathogenic
NM_198282.4(STING1):c.461A>G (p.Asn154Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000133400] Chr5:139480849 [GRCh38]
Chr5:138860434 [GRCh37]
Chr5:5q31.2
pathogenic
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 copy number gain See cases [RCV000133750] Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3 copy number gain See cases [RCV000137000] Chr5:139103408..139683294 [GRCh38]
Chr5:138439097..139062879 [GRCh37]
Chr5:138466996..139043063 [NCBI36]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
NM_198282.4(STING1):c.548A>G (p.Asn183Ser) single nucleotide variant Inborn genetic diseases [RCV004024306]|STING-associated vasculopathy with onset in infancy [RCV000529082]|not provided [RCV001200173] Chr5:139478481 [GRCh38]
Chr5:138858066 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_198282.4(STING1):c.659G>A (p.Arg220His) single nucleotide variant Autoinflammatory syndrome [RCV002263802]|STING-associated vasculopathy with onset in infancy [RCV000533005]|not provided [RCV003431113] Chr5:139478370 [GRCh38]
Chr5:138857955 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.532C>T (p.Arg178Trp) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000555475]|not provided [RCV003437279] Chr5:139478497 [GRCh38]
Chr5:138858082 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
NM_198282.4(STING1):c.695A>G (p.His232Arg) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000986118]|not provided [RCV001692127]|not specified [RCV000455115] Chr5:139478334 [GRCh38]
Chr5:139478334..139478335 [GRCh38]
Chr5:138857919 [GRCh37]
Chr5:138857919..138857920 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.144G>C (p.Val48=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001518183]|not provided [RCV001824781]|not specified [RCV000455772] Chr5:139481561 [GRCh38]
Chr5:138861146 [GRCh37]
Chr5:5q31.2
benign|not provided
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_198282.4(STING1):c.580G>T (p.Val194Leu) single nucleotide variant Autoinflammatory syndrome [RCV002263801]|STING-associated vasculopathy with onset in infancy [RCV000554557]|STING1-related disorder [RCV003915632]|not provided [RCV003437280] Chr5:139478449 [GRCh38]
Chr5:138858034 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.575G>T (p.Gly192Val) single nucleotide variant Autoinflammatory syndrome [RCV002263800]|Inborn genetic diseases [RCV004024307]|STING-associated vasculopathy with onset in infancy [RCV000539383]|STING1-related disorder [RCV003905453]|not provided [RCV001092019] Chr5:139478454 [GRCh38]
Chr5:138858039 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.376C>A (p.Leu126Ile) single nucleotide variant Autoinflammatory syndrome [RCV002263799]|STING-associated vasculopathy with onset in infancy [RCV000540617]|STING1-related disorder [RCV003915631]|not provided [RCV003437278] Chr5:139481194 [GRCh38]
Chr5:138860779 [GRCh37]
Chr5:5q31.2
benign
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
NM_198282.4(STING1):c.127A>C (p.Thr43Pro) single nucleotide variant Inborn genetic diseases [RCV003294931] Chr5:139481578 [GRCh38]
Chr5:138861163 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.757C>T (p.Arg253Trp) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000652339] Chr5:139478272 [GRCh38]
Chr5:138857857 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.929G>A (p.Arg310His) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000652341] Chr5:139477346 [GRCh38]
Chr5:138856931 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.33G>A (p.Pro11=) single nucleotide variant Autoinflammatory syndrome [RCV002263911]|STING-associated vasculopathy with onset in infancy [RCV000652342]|STING1-related disorder [RCV003945669] Chr5:139481672 [GRCh38]
Chr5:138861257 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.590G>A (p.Arg197Gln) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000652340] Chr5:139478439 [GRCh38]
Chr5:138858024 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.760-9C>A single nucleotide variant Autoinflammatory syndrome [RCV002263912]|STING-associated vasculopathy with onset in infancy [RCV000652343] Chr5:139477524 [GRCh38]
Chr5:138857109 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.61G>A (p.Ala21Thr) single nucleotide variant Autoinflammatory syndrome [RCV002263913]|Inborn genetic diseases [RCV004025853]|STING-associated vasculopathy with onset in infancy [RCV001080030]|STING1-related disorder [RCV003905771]|not provided [RCV000762166] Chr5:139481644 [GRCh38]
Chr5:138861229 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q31.2(chr5:138390162-139160907)x3 copy number gain not provided [RCV000682599] Chr5:138390162..139160907 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1127C>G (p.Thr376Arg) single nucleotide variant Inborn genetic diseases [RCV004026189]|STING-associated vasculopathy with onset in infancy [RCV000685279] Chr5:139476274 [GRCh38]
Chr5:138855859 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.979C>A (p.Gln327Lys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000690790] Chr5:139476422 [GRCh38]
Chr5:138856007 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1123C>T (p.Arg375Cys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000702994] Chr5:139476278 [GRCh38]
Chr5:138855863 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.952G>T (p.Ala318Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000705588] Chr5:139476449 [GRCh38]
Chr5:138856034 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000689142]|not provided [RCV001198467] Chr5:139477433 [GRCh38]
Chr5:138857018 [GRCh37]
Chr5:5q31.2
pathogenic|likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_198282.4(STING1):c.289G>A (p.Ala97Thr) single nucleotide variant Autoinflammatory syndrome [RCV002263964]|Inborn genetic diseases [RCV004027197]|STING-associated vasculopathy with onset in infancy [RCV001050985]|not provided [RCV000762165] Chr5:139481281 [GRCh38]
Chr5:138860866 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.340G>A (p.Gly114Ser) single nucleotide variant Autoinflammatory syndrome [RCV002264046]|STING-associated vasculopathy with onset in infancy [RCV000884264] Chr5:139481230 [GRCh38]
Chr5:138860815 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.462C>T (p.Asn154=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000921834] Chr5:139480848 [GRCh38]
Chr5:138860433 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.380C>T (p.Ser127Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000923242] Chr5:139481190 [GRCh38]
Chr5:138860775 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1139G>A (p.Ter380=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000927148] Chr5:139476262 [GRCh38]
Chr5:138855847 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1127C>T (p.Thr376Met) single nucleotide variant Inborn genetic diseases [RCV004678933]|STING-associated vasculopathy with onset in infancy [RCV001058878] Chr5:139476274 [GRCh38]
Chr5:138855859 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.10:g.(?_139476241)_(139481724_?)dup duplication STING-associated vasculopathy with onset in infancy [RCV001033680] Chr5:138855826..138861309 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.688G>A (p.Gly230Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001054364] Chr5:139478341 [GRCh38]
Chr5:138857926 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.7C>T (p.His3Tyr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000792287] Chr5:139481698 [GRCh38]
Chr5:138861283 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.32C>T (p.Pro11Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000800843] Chr5:139481673 [GRCh38]
Chr5:138861258 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.637A>C (p.Ser213Arg) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000805389] Chr5:139478392 [GRCh38]
Chr5:138857977 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.26C>T (p.Ser9Phe) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000815658] Chr5:139481679 [GRCh38]
Chr5:138861264 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.762G>A (p.Ala254=) single nucleotide variant Autoinflammatory syndrome [RCV002264065]|STING-associated vasculopathy with onset in infancy [RCV000895212]|STING1-related disorder [RCV003910660]|not provided [RCV003438565] Chr5:139477513 [GRCh38]
Chr5:138857098 [GRCh37]
Chr5:5q31.2
benign|likely benign
NM_198282.4(STING1):c.510G>C (p.Leu170=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000882455] Chr5:139480800 [GRCh38]
Chr5:138860385 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.726C>T (p.Asn242=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000982389] Chr5:139478303 [GRCh38]
Chr5:138857888 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.602T>C (p.Leu201Pro) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000796694] Chr5:139478427 [GRCh38]
Chr5:138858012 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.49G>A (p.Gly17Arg) single nucleotide variant Autoinflammatory syndrome [RCV002264002]|STING-associated vasculopathy with onset in infancy [RCV000810786] Chr5:139481656 [GRCh38]
Chr5:138861241 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.398T>A (p.Leu133His) single nucleotide variant Inborn genetic diseases [RCV004962849]|STING-associated vasculopathy with onset in infancy [RCV000817480]|not provided [RCV003238821] Chr5:139481172 [GRCh38]
Chr5:138860757 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.281G>A (p.Arg94His) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000818932] Chr5:139481289 [GRCh38]
Chr5:138860874 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1076A>G (p.Gln359Arg) single nucleotide variant Autoinflammatory syndrome [RCV002263983]|Inborn genetic diseases [RCV003279069]|STING-associated vasculopathy with onset in infancy [RCV000794675]|not provided [RCV004692260] Chr5:139476325 [GRCh38]
Chr5:138855910 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.395T>G (p.Ile132Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000804453] Chr5:139481175 [GRCh38]
Chr5:138860760 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1111C>A (p.Pro371Thr) single nucleotide variant not provided [RCV000788123] Chr5:139476290 [GRCh38]
Chr5:138855875 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.761C>T (p.Ala254Val) single nucleotide variant Autoinflammatory syndrome [RCV002264011]|STING-associated vasculopathy with onset in infancy [RCV000815578] Chr5:139477514 [GRCh38]
Chr5:138857099 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.44dup (p.His16fs) duplication STING-associated vasculopathy with onset in infancy [RCV000810574] Chr5:139481660..139481661 [GRCh38]
Chr5:138861245..138861246 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1000C>T (p.Arg334Trp) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000814578] Chr5:139476401 [GRCh38]
Chr5:138855986 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.975G>A (p.Leu325=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002540891] Chr5:139476426 [GRCh38]
Chr5:138856011 [GRCh37]
Chr5:5q31.2
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_198282.4(STING1):c.40A>C (p.Arg14=) single nucleotide variant Autoinflammatory syndrome [RCV002263977]|STING-associated vasculopathy with onset in infancy [RCV002234177]|not provided [RCV000788566] Chr5:139481665 [GRCh38]
Chr5:138861250 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_198282.4(STING1):c.1025del (p.Thr342fs) deletion STING-associated vasculopathy with onset in infancy [RCV000791726] Chr5:139476376 [GRCh38]
Chr5:138855961 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_001301738.2(STING1):c.759+755_759+759del deletion STING-associated vasculopathy with onset in infancy [RCV001044436] Chr5:139477511..139477515 [GRCh38]
Chr5:138857096..138857100 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1129G>T (p.Asp377Tyr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001215927] Chr5:139476272 [GRCh38]
Chr5:138855857 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.257G>C (p.Arg86Pro) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001241997] Chr5:139481313 [GRCh38]
Chr5:138860898 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.758G>A (p.Arg253Gln) single nucleotide variant Autoinflammatory syndrome [RCV002264233]|Inborn genetic diseases [RCV004032473]|STING-associated vasculopathy with onset in infancy [RCV001223358] Chr5:139478271 [GRCh38]
Chr5:138857856 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.845A>G (p.Glu282Gly) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001241179] Chr5:139477430 [GRCh38]
Chr5:138857015 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.233G>A (p.Arg78Gln) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001209838] Chr5:139481337 [GRCh38]
Chr5:138860922 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.992G>A (p.Arg331Gln) single nucleotide variant Inborn genetic diseases [RCV004032635]|STING-associated vasculopathy with onset in infancy [RCV001228481]|not provided [RCV003438725] Chr5:139476409 [GRCh38]
Chr5:138855994 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.1015G>A (p.Glu339Lys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001238526] Chr5:139476386 [GRCh38]
Chr5:138855971 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1 copy number loss not provided [RCV000846144] Chr5:137865800..139097368 [GRCh37]
Chr5:5q31.2
pathogenic
NC_000005.9:g.(?_138266142)_(138861289_?)dup duplication not provided [RCV003107539] Chr5:138266142..138861289 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.495C>T (p.Ile165=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000930485] Chr5:139480815 [GRCh38]
Chr5:138860400 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1124G>T (p.Arg375Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000892215] Chr5:139476277 [GRCh38]
Chr5:138855862 [GRCh37]
Chr5:5q31.2
benign|likely benign
NM_198282.4(STING1):c.174_175delinsTT (p.Leu58_Leu59=) indel STING-associated vasculopathy with onset in infancy [RCV000933332] Chr5:139481530..139481531 [GRCh38]
Chr5:138861115..138861116 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.348C>G (p.Pro116=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV000888986] Chr5:139481222 [GRCh38]
Chr5:138860807 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.211C>A (p.Arg71Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001226132] Chr5:139481494 [GRCh38]
Chr5:138861079 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.946+1G>T single nucleotide variant Autoinflammatory syndrome [RCV002264248]|STING-associated vasculopathy with onset in infancy [RCV001245181] Chr5:139477328 [GRCh38]
Chr5:138856913 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.759+19G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003106620] Chr5:139478251 [GRCh38]
Chr5:138857836 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.412-121G>A single nucleotide variant not provided [RCV001636190]|not specified [RCV003399440] Chr5:139481019 [GRCh38]
Chr5:138860604 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.92T>C (p.Val31Ala) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001034894] Chr5:139481613 [GRCh38]
Chr5:138861198 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.841C>T (p.Arg281Trp) single nucleotide variant Autoinflammatory syndrome [RCV002264151]|STING-associated vasculopathy with onset in infancy [RCV001041670]|not provided [RCV001593208] Chr5:139477434 [GRCh38]
Chr5:138857019 [GRCh37]
Chr5:5q31.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_198282.4(STING1):c.134G>A (p.Arg45Gln) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001056099] Chr5:139481571 [GRCh38]
Chr5:138861156 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.784G>A (p.Ala262Thr) single nucleotide variant Autoinflammatory syndrome [RCV002264221]|Inborn genetic diseases [RCV004963190]|STING-associated vasculopathy with onset in infancy [RCV001206640] Chr5:139477491 [GRCh38]
Chr5:138857076 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.668A>G (p.Asp223Gly) single nucleotide variant Inborn genetic diseases [RCV004031807]|STING-associated vasculopathy with onset in infancy [RCV001057313] Chr5:139478361 [GRCh38]
Chr5:138857946 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.212_213delinsAA (p.Arg71Gln) indel STING-associated vasculopathy with onset in infancy [RCV001203423] Chr5:139481492..139481493 [GRCh38]
Chr5:138861077..138861078 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.493A>C (p.Ile165Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001054401] Chr5:139480817 [GRCh38]
Chr5:138860402 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.142G>T (p.Val48Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001215228] Chr5:139481563 [GRCh38]
Chr5:138861148 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.493A>G (p.Ile165Val) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001204160] Chr5:139480817 [GRCh38]
Chr5:138860402 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.4C>T (p.Pro2Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001219483] Chr5:139481701 [GRCh38]
Chr5:138861286 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.589C>T (p.Arg197Trp) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001228282] Chr5:139478440 [GRCh38]
Chr5:138858025 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.344C>T (p.Pro115Leu) single nucleotide variant Inborn genetic diseases [RCV004031257]|STING-associated vasculopathy with onset in infancy [RCV001041621] Chr5:139481226 [GRCh38]
Chr5:138860811 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.760-3T>C single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002240732]|not provided [RCV001092018] Chr5:139477518 [GRCh38]
Chr5:138857103 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.1001G>A (p.Arg334Gln) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001042205] Chr5:139476400 [GRCh38]
Chr5:138855985 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1003C>A (p.Gln335Lys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001063074] Chr5:139476398 [GRCh38]
Chr5:138855983 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138101724-138876953)x3 copy number gain not provided [RCV001259915] Chr5:138101724..138876953 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138351402-138893343)x3 copy number gain not provided [RCV001259916] Chr5:138351402..138893343 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.336G>A (p.Ala112=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001304879] Chr5:139481234 [GRCh38]
Chr5:138860819 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.709G>T (p.Asp237Tyr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001351182] Chr5:139478320 [GRCh38]
Chr5:138857905 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_138855826)_(138861309_?)del deletion STING-associated vasculopathy with onset in infancy [RCV001325926] Chr5:138855826..138861309 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.767C>T (p.Thr256Ile) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001309055] Chr5:139477508 [GRCh38]
Chr5:138857093 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.751G>A (p.Gly251Arg) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001321269] Chr5:139478278 [GRCh38]
Chr5:138857863 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.418G>A (p.Ala140Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001316096] Chr5:139480892 [GRCh38]
Chr5:138860477 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.2T>C (p.Met1Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001306536] Chr5:139481703 [GRCh38]
Chr5:138861288 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.572G>A (p.Arg191Gln) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001372300] Chr5:139478457 [GRCh38]
Chr5:138858042 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.790C>T (p.Pro264Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001368186] Chr5:139477485 [GRCh38]
Chr5:138857070 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.539G>A (p.Arg180Gln) single nucleotide variant Inborn genetic diseases [RCV004037582]|STING-associated vasculopathy with onset in infancy [RCV001373663] Chr5:139478490 [GRCh38]
Chr5:138858075 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.105G>C (p.Gly35=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001392448] Chr5:139481600 [GRCh38]
Chr5:138861185 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1128G>A (p.Thr376=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001343632] Chr5:139476273 [GRCh38]
Chr5:138855858 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1 copy number loss not provided [RCV001270645] Chr5:137754277..138994590 [GRCh37]
Chr5:5q31.2
likely pathogenic
NM_198282.4(STING1):c.1021G>C (p.Val341Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001345160] Chr5:139476380 [GRCh38]
Chr5:138855965 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1054C>T (p.Pro352Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001361571] Chr5:139476347 [GRCh38]
Chr5:138855932 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.256C>T (p.Arg86Trp) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001364307]|not provided [RCV004692639] Chr5:139481314 [GRCh38]
Chr5:138860899 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.547A>C (p.Asn183His) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001301124] Chr5:139478482 [GRCh38]
Chr5:138858067 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.885T>A (p.Leu295=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001300278] Chr5:139477390 [GRCh38]
Chr5:138856975 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.161T>C (p.Leu54Pro) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001369607] Chr5:139481544 [GRCh38]
Chr5:138861129 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_198282.4(STING1):c.600T>C (p.Ile200=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001425342] Chr5:139478429 [GRCh38]
Chr5:138858014 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.878G>A (p.Arg293Gln) single nucleotide variant Autoinflammatory syndrome [RCV002264366]|STING-associated vasculopathy with onset in infancy [RCV001514934]|not provided [RCV001615191]|not specified [RCV003399284] Chr5:139477397 [GRCh38]
Chr5:138856982 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.689G>C (p.Gly230Ala) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001514935]|not provided [RCV001692407]|not specified [RCV003399285] Chr5:139478340 [GRCh38]
Chr5:138857925 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.48C>T (p.His16=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001441738] Chr5:139481657 [GRCh38]
Chr5:138861242 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.212G>A (p.Arg71His) single nucleotide variant Autoinflammatory syndrome [RCV002264370]|STING-associated vasculopathy with onset in infancy [RCV001517533]|not provided [RCV001724330]|not specified [RCV003399299] Chr5:139481493 [GRCh38]
Chr5:138861078 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.571C>T (p.Arg191Trp) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001501434] Chr5:139478458 [GRCh38]
Chr5:138858043 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.228-5C>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001409489] Chr5:139481347 [GRCh38]
Chr5:138860932 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.178T>C (p.Leu60=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001437373] Chr5:139481527 [GRCh38]
Chr5:138861112 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.381G>A (p.Ser127=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001444427] Chr5:139481189 [GRCh38]
Chr5:138860774 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.879G>A (p.Arg293=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001411171] Chr5:139477396 [GRCh38]
Chr5:138856981 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.570A>G (p.Leu190=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001411478] Chr5:139478459 [GRCh38]
Chr5:138858044 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.589C>A (p.Arg197=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001438347] Chr5:139478440 [GRCh38]
Chr5:138858025 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.720C>T (p.Tyr240=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001402977] Chr5:139478309 [GRCh38]
Chr5:138857894 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.971C>T (p.Ser324Leu) single nucleotide variant Autoinflammatory syndrome [RCV002264345]|STING-associated vasculopathy with onset in infancy [RCV001478782] Chr5:139476430 [GRCh38]
Chr5:138856015 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.525C>T (p.Leu175=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001469981] Chr5:139478504 [GRCh38]
Chr5:138858089 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.345G>A (p.Pro115=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001455518] Chr5:139481225 [GRCh38]
Chr5:138860810 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.906C>T (p.Ala302=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001487349] Chr5:139477369 [GRCh38]
Chr5:138856954 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1068G>A (p.Thr356=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001441968] Chr5:139476333 [GRCh38]
Chr5:138855918 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.760-4C>G single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001506481] Chr5:139477519 [GRCh38]
Chr5:138857104 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.411+14G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001520915] Chr5:139481145 [GRCh38]
Chr5:138860730 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.750C>T (p.Asn250=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001471165] Chr5:139478279 [GRCh38]
Chr5:138857864 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.227+9C>G single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001482380] Chr5:139481469 [GRCh38]
Chr5:138861054 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.846G>A (p.Glu282=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001466413] Chr5:139477429 [GRCh38]
Chr5:138857014 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.457T>A (p.Phe153Ile) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV001730166] Chr5:139480853 [GRCh38]
Chr5:138860438 [GRCh37]
Chr5:5q31.2
pathogenic
NM_198282.4(STING1):c.946+6G>T single nucleotide variant Autoinflammatory syndrome [RCV002264482]|STING-associated vasculopathy with onset in infancy [RCV002237390] Chr5:139477323 [GRCh38]
Chr5:138856908 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.479C>T (p.Ala160Val) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237402] Chr5:139480831 [GRCh38]
Chr5:138860416 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.275C>A (p.Pro92His) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237411] Chr5:139481295 [GRCh38]
Chr5:138860880 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.228-3C>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237413] Chr5:139481345 [GRCh38]
Chr5:138860930 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.228-32_228-19del deletion STING-associated vasculopathy with onset in infancy [RCV002237414] Chr5:139481361..139481374 [GRCh38]
Chr5:138860946..138860959 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.220C>T (p.His74Tyr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237418] Chr5:139481485 [GRCh38]
Chr5:138861070 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.946+12G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237389] Chr5:139477317 [GRCh38]
Chr5:138856902 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.565C>T (p.Leu189=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237397] Chr5:139478464 [GRCh38]
Chr5:138858049 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.430A>G (p.Ile144Val) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237404] Chr5:139480880 [GRCh38]
Chr5:138860465 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.288G>A (p.Gly96=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237410] Chr5:139481282 [GRCh38]
Chr5:138860867 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.344del (p.Pro115fs) deletion not provided [RCV001761290] Chr5:139481226 [GRCh38]
Chr5:138860811 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.783C>T (p.Tyr261=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237393] Chr5:139477492 [GRCh38]
Chr5:138857077 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.759+14G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237394] Chr5:139478256 [GRCh38]
Chr5:138857841 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.529G>A (p.Ala177Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237398] Chr5:139478500 [GRCh38]
Chr5:138858085 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.521-10C>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237399] Chr5:139478518 [GRCh38]
Chr5:138858103 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.438A>G (p.Ala146=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237403] Chr5:139480872 [GRCh38]
Chr5:138860457 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.227+4A>G single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237416] Chr5:139481474 [GRCh38]
Chr5:138861059 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.227+1G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237417] Chr5:139481477 [GRCh38]
Chr5:138861062 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.277del (p.Leu93fs) deletion not specified [RCV002248879] Chr5:139481293 [GRCh38]
Chr5:138860878 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1049C>T (p.Ala350Val) single nucleotide variant Autoinflammatory syndrome [RCV002264386]|STING-associated vasculopathy with onset in infancy [RCV002241575]|not provided [RCV001756665] Chr5:139476352 [GRCh38]
Chr5:138855937 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.760-2_766delinsTACCT indel STING-associated vasculopathy with onset in infancy [RCV001804229] Chr5:139477509..139477517 [GRCh38]
Chr5:138857094..138857102 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1 copy number loss not provided [RCV001834327] Chr5:138675227..139314012 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138386858-138935115)x3 copy number gain not provided [RCV001827923] Chr5:138386858..138935115 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_198282.4(STING1):c.760-13T>C single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002236481] Chr5:139477528 [GRCh38]
Chr5:138857113 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.411+10A>G single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002236484] Chr5:139481149 [GRCh38]
Chr5:138860734 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.184G>A (p.Gly62Arg) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002236487] Chr5:139481521 [GRCh38]
Chr5:138861106 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.947-18C>G single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237387] Chr5:139476472 [GRCh38]
Chr5:138856057 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.503T>C (p.Leu168Pro) single nucleotide variant Inborn genetic diseases [RCV004681465]|STING-associated vasculopathy with onset in infancy [RCV002237401] Chr5:139480807 [GRCh38]
Chr5:138860392 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.227+11G>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237415] Chr5:139481467 [GRCh38]
Chr5:138861052 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.411+12G>C single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002236483] Chr5:139481147 [GRCh38]
Chr5:138860732 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.30C>T (p.Ile10=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002236489] Chr5:139481675 [GRCh38]
Chr5:138861260 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1124G>A (p.Arg375His) single nucleotide variant Autoinflammatory syndrome [RCV002264481]|Inborn genetic diseases [RCV004673650]|STING-associated vasculopathy with onset in infancy [RCV002237384] Chr5:139476277 [GRCh38]
Chr5:138855862 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.947-19C>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237388] Chr5:139476473 [GRCh38]
Chr5:138856058 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.710A>G (p.Asp237Gly) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237395] Chr5:139478319 [GRCh38]
Chr5:138857904 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.339C>T (p.Val113=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237408] Chr5:139481231 [GRCh38]
Chr5:138860816 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.337G>A (p.Val113Ile) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237409] Chr5:139481233 [GRCh38]
Chr5:138860818 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1110G>A (p.Lys370=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237385] Chr5:139476291 [GRCh38]
Chr5:138855876 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.785C>G (p.Ala262Gly) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237392] Chr5:139477490 [GRCh38]
Chr5:138857075 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.585C>T (p.Ser195=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237396] Chr5:139478444 [GRCh38]
Chr5:138858029 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.520+14T>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237400] Chr5:139480776 [GRCh38]
Chr5:138860361 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.366C>T (p.Ala122=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237406] Chr5:139481204 [GRCh38]
Chr5:138860789 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.353C>T (p.Thr118Ile) single nucleotide variant Inborn genetic diseases [RCV004965815]|STING-associated vasculopathy with onset in infancy [RCV002237407] Chr5:139481217 [GRCh38]
Chr5:138860802 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.763G>A (p.Gly255Ser) single nucleotide variant Inborn genetic diseases [RCV004673651]|STING-associated vasculopathy with onset in infancy [RCV002236480] Chr5:139477512 [GRCh38]
Chr5:138857097 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.411+17G>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003111945] Chr5:139481142 [GRCh38]
Chr5:138860727 [GRCh37]
Chr5:5q31.2
likely benign
NC_000005.9:g.(?_136957787)_(140078137_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NC_000005.9:g.(?_136957787)_(138861289_?)del deletion STING-associated vasculopathy with onset in infancy [RCV003113978] Chr5:136957787..138861289 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.397C>T (p.Leu133Phe) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002236485] Chr5:139481173 [GRCh38]
Chr5:138860758 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_138855846)_(138858113_?)del deletion STING-associated vasculopathy with onset in infancy [RCV002237382] Chr5:138855846..138858113 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.412-8G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237405] Chr5:139480906 [GRCh38]
Chr5:138860491 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1006G>A (p.Glu336Lys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237386] Chr5:139476395 [GRCh38]
Chr5:138855980 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.804G>C (p.Leu268Phe) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237391] Chr5:139477471 [GRCh38]
Chr5:138857056 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.233G>C (p.Arg78Pro) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002237412] Chr5:139481337 [GRCh38]
Chr5:138860922 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.141G>C (p.Leu47=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002236488] Chr5:139481564 [GRCh38]
Chr5:138861149 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.760-16C>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002236482] Chr5:139477531 [GRCh38]
Chr5:138857116 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.381G>T (p.Ser127=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002236486] Chr5:139481189 [GRCh38]
Chr5:138860774 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1104G>A (p.Met368Ile) single nucleotide variant Autoinflammatory syndrome [RCV002264520] Chr5:139476297 [GRCh38]
Chr5:138855882 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.175C>T (p.Leu59=) single nucleotide variant Autoinflammatory syndrome [RCV002264523]|not provided [RCV003438986] Chr5:139481530 [GRCh38]
Chr5:138861115 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.227+10T>A single nucleotide variant Autoinflammatory syndrome [RCV002264524] Chr5:139481468 [GRCh38]
Chr5:138861053 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.272G>A (p.Cys91Tyr) single nucleotide variant Autoinflammatory syndrome [RCV002264525] Chr5:139481298 [GRCh38]
Chr5:138860883 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.498A>T (p.Gly166=) single nucleotide variant Autoinflammatory syndrome [RCV002264529] Chr5:139480812 [GRCh38]
Chr5:138860397 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.697G>A (p.Ala233Thr) single nucleotide variant Autoinflammatory syndrome [RCV002264530]|STING-associated vasculopathy with onset in infancy [RCV003101474] Chr5:139478332 [GRCh38]
Chr5:138857917 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.760-1_760del deletion Autoinflammatory syndrome [RCV002264531] Chr5:139477515..139477516 [GRCh38]
Chr5:138857100..138857101 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.760-3dup duplication Autoinflammatory syndrome [RCV002264532] Chr5:139477517..139477518 [GRCh38]
Chr5:138857102..138857103 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.766A>T (p.Thr256Ser) single nucleotide variant Autoinflammatory syndrome [RCV002264534]|Inborn genetic diseases [RCV003164377] Chr5:139477509 [GRCh38]
Chr5:138857094 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1013del (p.Lys338fs) deletion Autoinflammatory syndrome [RCV002264519]|STING-associated vasculopathy with onset in infancy [RCV003101473] Chr5:139476388 [GRCh38]
Chr5:138855973 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.159C>A (p.Ser53=) single nucleotide variant Autoinflammatory syndrome [RCV002264521] Chr5:139481546 [GRCh38]
Chr5:138861131 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.174G>T (p.Leu58=) single nucleotide variant Autoinflammatory syndrome [RCV002264522]|not provided [RCV003438985] Chr5:139481531 [GRCh38]
Chr5:138861116 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.284G>A (p.Arg95His) single nucleotide variant Autoinflammatory syndrome [RCV002264526]|STING-associated vasculopathy with onset in infancy [RCV003120860] Chr5:139481286 [GRCh38]
Chr5:138860871 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.411+4T>C single nucleotide variant Autoinflammatory syndrome [RCV002264527]|STING-associated vasculopathy with onset in infancy [RCV003586321] Chr5:139481155 [GRCh38]
Chr5:138860740 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.413G>C (p.Gly138Ala) single nucleotide variant Autoinflammatory syndrome [RCV002264528] Chr5:139480897 [GRCh38]
Chr5:138860482 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.762_764del (p.Gly255del) deletion Autoinflammatory syndrome [RCV002264533] Chr5:139477511..139477513 [GRCh38]
Chr5:138857096..138857098 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.877C>T (p.Arg293Trp) single nucleotide variant Autoinflammatory syndrome [RCV002264535]|not provided [RCV003128853] Chr5:139477398 [GRCh38]
Chr5:138856983 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.928C>T (p.Arg310Cys) single nucleotide variant Autoinflammatory syndrome [RCV002264536]|Inborn genetic diseases [RCV004047426]|STING-associated vasculopathy with onset in infancy [RCV005095920] Chr5:139477347 [GRCh38]
Chr5:138856932 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.980A>C (p.Gln327Pro) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003014623] Chr5:139476421 [GRCh38]
Chr5:138856006 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.102G>C (p.Trp34Cys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002863255] Chr5:139481603 [GRCh38]
Chr5:138861188 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1077A>G (p.Gln359=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003034320] Chr5:139476324 [GRCh38]
Chr5:138855909 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.847G>A (p.Asp283Asn) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003016302] Chr5:139477428 [GRCh38]
Chr5:138857013 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1061C>T (p.Thr354Ile) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002881112] Chr5:139476340 [GRCh38]
Chr5:138855925 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.759+3A>G single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002776388] Chr5:139478267 [GRCh38]
Chr5:138857852 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.947-9C>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002681297] Chr5:139476463 [GRCh38]
Chr5:138856048 [GRCh37]
Chr5:5q31.2
likely benign
GRCh37/hg19 5q31.2(chr5:137893096-138868605)x3 copy number gain not provided [RCV002475593] Chr5:137893096..138868605 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.947-3C>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002881597] Chr5:139476457 [GRCh38]
Chr5:138856042 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.520+11C>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002617972] Chr5:139480779 [GRCh38]
Chr5:138860364 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.545A>C (p.Tyr182Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002870741] Chr5:139478484 [GRCh38]
Chr5:138858069 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.364G>A (p.Ala122Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002867422] Chr5:139481206 [GRCh38]
Chr5:138860791 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1025C>A (p.Thr342Asn) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002948337]|not provided [RCV004790286] Chr5:139476376 [GRCh38]
Chr5:138855961 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.993G>A (p.Arg331=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002797289] Chr5:139476408 [GRCh38]
Chr5:138855993 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.520G>A (p.Glu174Lys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002820686] Chr5:139480790 [GRCh38]
Chr5:138860375 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.946+19G>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002949657] Chr5:139477310 [GRCh38]
Chr5:138856895 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.664C>T (p.Leu222=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002796215] Chr5:139478365 [GRCh38]
Chr5:138857950 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.551A>T (p.Gln184Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002867251] Chr5:139478478 [GRCh38]
Chr5:138858063 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.412-7T>C single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002867333] Chr5:139480905 [GRCh38]
Chr5:138860490 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.946+5G>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002847645] Chr5:139477324 [GRCh38]
Chr5:138856909 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.5C>T (p.Pro2Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002867149] Chr5:139481700 [GRCh38]
Chr5:138861285 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.125A>C (p.His42Pro) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003078611] Chr5:139481580 [GRCh38]
Chr5:138861165 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.851G>C (p.Arg284Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002847646] Chr5:139477424 [GRCh38]
Chr5:138857009 [GRCh37]
Chr5:5q31.2
pathogenic
NM_198282.4(STING1):c.395T>A (p.Ile132Asn) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002949463] Chr5:139481175 [GRCh38]
Chr5:138860760 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.947-20C>G single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002953181] Chr5:139476474 [GRCh38]
Chr5:138856059 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.932T>C (p.Leu311Pro) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003058606] Chr5:139477343 [GRCh38]
Chr5:138856928 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1065C>A (p.Ser355=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002894919] Chr5:139476336 [GRCh38]
Chr5:138855921 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.946+6G>C single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003058132] Chr5:139477323 [GRCh38]
Chr5:138856908 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.966C>T (p.Ser322=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002828274] Chr5:139476435 [GRCh38]
Chr5:138856020 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.496G>T (p.Gly166Ter) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002851012] Chr5:139480814 [GRCh38]
Chr5:138860399 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.946+6G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002766486] Chr5:139477323 [GRCh38]
Chr5:138856908 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.216C>T (p.His72=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002958252]|STING1-related disorder [RCV003973579] Chr5:139481489 [GRCh38]
Chr5:138861074 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.579A>G (p.Ala193=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002786164] Chr5:139478450 [GRCh38]
Chr5:138858035 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.389T>C (p.Leu130Pro) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002917177] Chr5:139481181 [GRCh38]
Chr5:138860766 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.330A>T (p.Pro110=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002894420] Chr5:139481240 [GRCh38]
Chr5:138860825 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.952G>C (p.Ala318Pro) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002958377] Chr5:139476449 [GRCh38]
Chr5:138856034 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.128C>T (p.Thr43Ile) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003084648] Chr5:139481577 [GRCh38]
Chr5:138861162 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.844G>A (p.Glu282Lys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002596750] Chr5:139477431 [GRCh38]
Chr5:138857016 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.411+12G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002624881] Chr5:139481147 [GRCh38]
Chr5:138860732 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.620G>T (p.Gly207Val) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002833936] Chr5:139478409 [GRCh38]
Chr5:138857994 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.996C>T (p.His332=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003091020] Chr5:139476405 [GRCh38]
Chr5:138855990 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.722G>C (p.Ser241Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002631633] Chr5:139478307 [GRCh38]
Chr5:138857892 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.712C>A (p.Arg238=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002627402] Chr5:139478317 [GRCh38]
Chr5:138857902 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1084G>A (p.Glu362Lys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002577519] Chr5:139476317 [GRCh38]
Chr5:138855902 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.411+3A>G single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002833190] Chr5:139481156 [GRCh38]
Chr5:138860741 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.65C>A (p.Ala22Asp) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002921871] Chr5:139481640 [GRCh38]
Chr5:138861225 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.411+15del deletion STING-associated vasculopathy with onset in infancy [RCV002810590] Chr5:139481144 [GRCh38]
Chr5:138860729 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.524T>C (p.Leu175Pro) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003043725] Chr5:139478505 [GRCh38]
Chr5:138858090 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.300G>A (p.Leu100=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002601029] Chr5:139481270 [GRCh38]
Chr5:138860855 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1083T>C (p.Pro361=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002598929] Chr5:139476318 [GRCh38]
Chr5:138855903 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1027G>A (p.Val343Met) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002581813] Chr5:139476374 [GRCh38]
Chr5:138855959 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.411+10del deletion STING-associated vasculopathy with onset in infancy [RCV003061238] Chr5:139481149 [GRCh38]
Chr5:138860734 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.133C>T (p.Arg45Trp) single nucleotide variant Inborn genetic diseases [RCV004070288]|STING-associated vasculopathy with onset in infancy [RCV003051252] Chr5:139481572 [GRCh38]
Chr5:138861157 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.520+19C>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003067242] Chr5:139480771 [GRCh38]
Chr5:138860356 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.276C>T (p.Pro92=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002943853] Chr5:139481294 [GRCh38]
Chr5:138860879 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.520+15C>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002607393] Chr5:139480775 [GRCh38]
Chr5:138860360 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.91G>T (p.Val31Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV002814726] Chr5:139481614 [GRCh38]
Chr5:138861199 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.95C>T (p.Thr32Ile) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003092290] Chr5:139481610 [GRCh38]
Chr5:138861195 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.946+5G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003093284] Chr5:139477324 [GRCh38]
Chr5:138856909 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.614A>G (p.Asp205Gly) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003335870] Chr5:139478415 [GRCh38]
Chr5:138858000 [GRCh37]
Chr5:5q31.2
likely pathogenic
NM_198282.4(STING1):c.575G>A (p.Gly192Asp) single nucleotide variant Inborn genetic diseases [RCV003373486] Chr5:139478454 [GRCh38]
Chr5:138858039 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138750154-138876953)x1 copy number loss not provided [RCV003485481] Chr5:138750154..138876953 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.851G>A (p.Arg284Lys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003874757] Chr5:139477424 [GRCh38]
Chr5:138857009 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.*4_*5del deletion not provided [RCV003436456] Chr5:139476256..139476257 [GRCh38]
Chr5:138855841..138855842 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.21T>G (p.His7Gln) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003829665] Chr5:139481684 [GRCh38]
Chr5:138861269 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.61_64del (p.Ala21fs) deletion STING-associated vasculopathy with onset in infancy [RCV003827628] Chr5:139481641..139481644 [GRCh38]
Chr5:138861226..138861229 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.991C>T (p.Arg331Trp) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003831245] Chr5:139476410 [GRCh38]
Chr5:138855995 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.760-240A>G single nucleotide variant not specified [RCV003489025] Chr5:139477755 [GRCh38]
Chr5:138857340 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.947-86G>A single nucleotide variant not specified [RCV003490375] Chr5:139476540 [GRCh38]
Chr5:138856125 [GRCh37]
Chr5:5q31.2
benign
NM_198282.4(STING1):c.620G>A (p.Gly207Glu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003827646] Chr5:139478409 [GRCh38]
Chr5:138857994 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1028T>C (p.Val343Ala) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003879671] Chr5:139476373 [GRCh38]
Chr5:138855958 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.69G>C (p.Leu23Phe) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749464] Chr5:139481636 [GRCh38]
Chr5:138861221 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.759+15G>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749979] Chr5:139478255 [GRCh38]
Chr5:138857840 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.520+11CT[2] microsatellite STING-associated vasculopathy with onset in infancy [RCV003749965] Chr5:139480774..139480775 [GRCh38]
Chr5:138860359..138860360 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.862G>A (p.Ala288Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749067] Chr5:139477413 [GRCh38]
Chr5:138856998 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.826C>G (p.Gln276Glu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749109] Chr5:139477449 [GRCh38]
Chr5:138857034 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.400C>T (p.Leu134=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749113] Chr5:139481170 [GRCh38]
Chr5:138860755 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.777G>A (p.Leu259=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749182] Chr5:139477498 [GRCh38]
Chr5:138857083 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.946+12_946+27del deletion STING-associated vasculopathy with onset in infancy [RCV003850591] Chr5:139477302..139477317 [GRCh38]
Chr5:138856887..138856902 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.259G>A (p.Ala87Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003586467] Chr5:139481311 [GRCh38]
Chr5:138860896 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.276C>A (p.Pro92=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003834307] Chr5:139481294 [GRCh38]
Chr5:138860879 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.755A>G (p.Gln252Arg) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749438] Chr5:139478274 [GRCh38]
Chr5:138857859 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.333T>A (p.Asn111Lys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749929] Chr5:139481237 [GRCh38]
Chr5:138860822 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.972G>A (p.Ser324=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003750136] Chr5:139476429 [GRCh38]
Chr5:138856014 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.735T>C (p.Tyr245=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003833457] Chr5:139478294 [GRCh38]
Chr5:138857879 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.498A>G (p.Gly166=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749185] Chr5:139480812 [GRCh38]
Chr5:138860397 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.42G>A (p.Arg14=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749252] Chr5:139481663 [GRCh38]
Chr5:138861248 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_198282.4(STING1):c.70G>T (p.Val24Phe) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749508] Chr5:139481635 [GRCh38]
Chr5:138861220 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.428A>C (p.Glu143Ala) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003749568] Chr5:139480882 [GRCh38]
Chr5:138860467 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.808G>A (p.Ala270Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003750210] Chr5:139477467 [GRCh38]
Chr5:138857052 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.290C>A (p.Ala97Asp) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003750252] Chr5:139481280 [GRCh38]
Chr5:138860865 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.335C>T (p.Ala112Val) single nucleotide variant Inborn genetic diseases [RCV004968511]|STING-associated vasculopathy with onset in infancy [RCV003849486] Chr5:139481235 [GRCh38]
Chr5:138860820 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.280C>T (p.Arg94Cys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003842849] Chr5:139481290 [GRCh38]
Chr5:138860875 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.931C>T (p.Leu311Phe) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003587566] Chr5:139477344 [GRCh38]
Chr5:138856929 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.616T>G (p.Cys206Gly) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003842903] Chr5:139478413 [GRCh38]
Chr5:138857998 [GRCh37]
Chr5:5q31.2
likely pathogenic
NM_198282.4(STING1):c.411+10_411+11del deletion STING-associated vasculopathy with onset in infancy [RCV003848789] Chr5:139481148..139481149 [GRCh38]
Chr5:138860733..138860734 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.227+18C>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003587699] Chr5:139481460 [GRCh38]
Chr5:138861045 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.213C>T (p.Arg71=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003587652] Chr5:139481492 [GRCh38]
Chr5:138861077 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.538C>T (p.Arg180Ter) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003586649] Chr5:139478491 [GRCh38]
Chr5:138858076 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.345G>T (p.Pro115=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003586770] Chr5:139481225 [GRCh38]
Chr5:138860810 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.411+12G>T single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003858951] Chr5:139481147 [GRCh38]
Chr5:138860732 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.688G>T (p.Gly230Cys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003748555] Chr5:139478341 [GRCh38]
Chr5:138857926 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.856G>A (p.Glu286Lys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003748556] Chr5:139477419 [GRCh38]
Chr5:138857004 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1061C>A (p.Thr354Asn) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003748818] Chr5:139476340 [GRCh38]
Chr5:138855925 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.40del (p.Arg14fs) deletion STING-associated vasculopathy with onset in infancy [RCV003586795] Chr5:139481665 [GRCh38]
Chr5:138861250 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.170G>T (p.Gly57Val) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003854006] Chr5:139481535 [GRCh38]
Chr5:138861120 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.412-18A>G single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003587522] Chr5:139480916 [GRCh38]
Chr5:138860501 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.568C>T (p.Leu190=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003748109] Chr5:139478461 [GRCh38]
Chr5:138858046 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.505C>T (p.Arg169Trp) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003748898] Chr5:139480805 [GRCh38]
Chr5:138860390 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.533G>A (p.Arg178Gln) single nucleotide variant Inborn genetic diseases [RCV004373958]|STING-associated vasculopathy with onset in infancy [RCV003748152] Chr5:139478496 [GRCh38]
Chr5:138858081 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.99T>A (p.Leu33=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003748533] Chr5:139481606 [GRCh38]
Chr5:138861191 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.695_696insGTGACCG (p.His232delinsGlnTer) insertion STING-associated vasculopathy with onset in infancy [RCV003748539] Chr5:139478333..139478334 [GRCh38]
Chr5:138857918..138857919 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.622G>A (p.Val208Met) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003748541] Chr5:139478407 [GRCh38]
Chr5:138857992 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.816A>G (p.Ser272=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003843089]|not specified [RCV004701847] Chr5:139477459 [GRCh38]
Chr5:138857044 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.376C>G (p.Leu126Val) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003586747] Chr5:139481194 [GRCh38]
Chr5:138860779 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.831T>C (p.Ala277=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003748048] Chr5:139477444 [GRCh38]
Chr5:138857029 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.908C>A (p.Pro303His) single nucleotide variant Inborn genetic diseases [RCV004371550]|STING-associated vasculopathy with onset in infancy [RCV003748654] Chr5:139477367 [GRCh38]
Chr5:138856952 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.60G>A (p.Lys20=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003748689] Chr5:139481645 [GRCh38]
Chr5:138861230 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.325C>T (p.Leu109Phe) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003587633] Chr5:139481245 [GRCh38]
Chr5:138860830 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.324C>T (p.Ser108=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003587637] Chr5:139481246 [GRCh38]
Chr5:138860831 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.691G>A (p.Asp231Asn) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003587949] Chr5:139478338 [GRCh38]
Chr5:138857923 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.211C>T (p.Arg71Cys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003847862] Chr5:139481494 [GRCh38]
Chr5:138861079 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.658C>T (p.Arg220Cys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV003587276] Chr5:139478371 [GRCh38]
Chr5:138857956 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.686C>T (p.Thr229Ile) single nucleotide variant not provided [RCV003993347] Chr5:139478343 [GRCh38]
Chr5:138857928 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.683A>G (p.Gln228Arg) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV004789977] Chr5:139478346 [GRCh38]
Chr5:138857931 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.431T>C (p.Ile144Thr) single nucleotide variant Inborn genetic diseases [RCV004465604] Chr5:139480879 [GRCh38]
Chr5:138860464 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.659G>T (p.Arg220Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV004555783] Chr5:139478370 [GRCh38]
Chr5:138857955 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.490T>G (p.Tyr164Asp) single nucleotide variant Inborn genetic diseases [RCV004465605] Chr5:139480820 [GRCh38]
Chr5:138860405 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.863C>T (p.Ala288Val) single nucleotide variant Inborn genetic diseases [RCV004465606] Chr5:139477412 [GRCh38]
Chr5:138856997 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_138356840)_(138860503_?)dup duplication STING-associated vasculopathy with onset in infancy [RCV004580511] Chr5:138356840..138860503 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.852G>C (p.Arg284Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005105134]|not provided [RCV004798230] Chr5:139477423 [GRCh38]
Chr5:138857008 [GRCh37]
Chr5:5q31.2
pathogenic
NM_198282.4(STING1):c.195C>G (p.Ser65Arg) single nucleotide variant Inborn genetic diseases [RCV004969085] Chr5:139481510 [GRCh38]
Chr5:138861095 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1127C>A (p.Thr376Lys) single nucleotide variant Inborn genetic diseases [RCV004969087] Chr5:139476274 [GRCh38]
Chr5:138855859 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.109G>A (p.Gly37Arg) single nucleotide variant Inborn genetic diseases [RCV004969088]|STING-associated vasculopathy with onset in infancy [RCV005061596] Chr5:139481596 [GRCh38]
Chr5:138861181 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.110G>A (p.Gly37Glu) single nucleotide variant Inborn genetic diseases [RCV004969086] Chr5:139481595 [GRCh38]
Chr5:138861180 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.186G>C (p.Gly62=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005068340] Chr5:139481519 [GRCh38]
Chr5:138861104 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.926G>A (p.Cys309Tyr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005138742] Chr5:139477349 [GRCh38]
Chr5:138856934 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.661T>C (p.Phe221Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005133366] Chr5:139478368 [GRCh38]
Chr5:138857953 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.908C>T (p.Pro303Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005134582] Chr5:139477367 [GRCh38]
Chr5:138856952 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.228-20_228-14del microsatellite STING-associated vasculopathy with onset in infancy [RCV005088827] Chr5:139481356..139481362 [GRCh38]
Chr5:138860941..138860947 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.950C>T (p.Pro317Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005133701] Chr5:139476451 [GRCh38]
Chr5:138856036 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.150C>T (p.His50=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005127346] Chr5:139481555 [GRCh38]
Chr5:138861140 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.188T>C (p.Val63Ala) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005130064] Chr5:139481517 [GRCh38]
Chr5:138861102 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.141G>A (p.Leu47=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005170984] Chr5:139481564 [GRCh38]
Chr5:138861149 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.1122C>T (p.Leu374=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005198858] Chr5:139476279 [GRCh38]
Chr5:138855864 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.947A>G (p.Glu316Gly) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005206102] Chr5:139476454 [GRCh38]
Chr5:138856039 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.946+1G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005071337] Chr5:139477328 [GRCh38]
Chr5:138856913 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.822C>G (p.Tyr274Ter) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005078260] Chr5:139477453 [GRCh38]
Chr5:138857038 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.946+19G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005077921] Chr5:139477310 [GRCh38]
Chr5:138856895 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.50G>A (p.Gly17Glu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005083166] Chr5:139481655 [GRCh38]
Chr5:138861240 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.411G>A (p.Lys137=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005084336] Chr5:139481159 [GRCh38]
Chr5:138860744 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.439G>A (p.Val147Met) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005200529] Chr5:139480871 [GRCh38]
Chr5:138860456 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.343C>T (p.Pro115Ser) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005159368] Chr5:139481227 [GRCh38]
Chr5:138860812 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.80G>C (p.Ser27Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005183042] Chr5:139481625 [GRCh38]
Chr5:138861210 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.636G>A (p.Leu212=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005176336] Chr5:139478393 [GRCh38]
Chr5:138857978 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.612G>A (p.Leu204=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005192252] Chr5:139478417 [GRCh38]
Chr5:138858002 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.357G>T (p.Trp119Cys) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005193548] Chr5:139481213 [GRCh38]
Chr5:138860798 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.898G>A (p.Ala300Thr) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005187020] Chr5:139477377 [GRCh38]
Chr5:138856962 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.1089C>T (p.Leu363=) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005149721] Chr5:139476312 [GRCh38]
Chr5:138855897 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.539G>T (p.Arg180Leu) single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005070024] Chr5:139478490 [GRCh38]
Chr5:138858075 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_198282.4(STING1):c.759+15G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005173443] Chr5:139478255 [GRCh38]
Chr5:138857840 [GRCh37]
Chr5:5q31.2
likely benign
NM_198282.4(STING1):c.946+17G>A single nucleotide variant STING-associated vasculopathy with onset in infancy [RCV005174451] Chr5:139477312 [GRCh38]
Chr5:138856897 [GRCh37]
Chr5:5q31.2
likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:4252
Count of miRNA genes:1016
Interacting mature miRNAs:1277
Transcripts:ENST00000330794, ENST00000502362, ENST00000502825, ENST00000503287, ENST00000503838, ENST00000507297, ENST00000509573, ENST00000510817, ENST00000511850, ENST00000511886, ENST00000512606, ENST00000514119, ENST00000514348, ENST00000514542, ENST00000515507
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
597377967GWAS1474041_Hesophageal squamous cell carcinoma QTL GWAS1474041 (human)8e-20esophageal squamous cell carcinoma5139481561139481562Human
1357314AASTH54_HAllergic/atopic asthma related QTL 54 (human)3.560.0003Reversible airflow obstructiontotal serum IgE5135892246150155845Human
597077504GWAS1173578_Hpsoriasis QTL GWAS1173578 (human)0.000002psoriasis5139481493139481494Human
597127096GWAS1223170_Hresponse to radiation, mucositis QTL GWAS1223170 (human)4e-16response to radiation, mucositis5139478334139478335Human

Markers in Region
D9S290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,527,468 - 131,527,624UniSTSGRCh37
GRCh379131,527,452 - 131,527,572UniSTSGRCh37
Build 369130,567,289 - 130,567,445RGDNCBI36
Celera9102,178,231 - 102,178,345UniSTS
Celera9102,178,247 - 102,178,397RGD
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q31.2UniSTS
HuRef9101,136,465 - 101,136,615UniSTS
HuRef9101,136,449 - 101,136,563UniSTS
Marshfield Genetic Map9140.86UniSTS
Marshfield Genetic Map9140.86RGD
Genethon Genetic Map9141.1UniSTS
TNG Radiation Hybrid Map949651.0UniSTS
deCODE Assembly Map9136.4UniSTS
GeneMap99-GB4 RH Map9394.37UniSTS
D5S1687E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375138,855,481 - 138,855,605UniSTSGRCh37
Build 365138,835,665 - 138,835,789RGDNCBI36
Celera5134,930,526 - 134,930,650RGD
Cytogenetic Map5q31.2UniSTS
HuRef5133,998,319 - 133,998,443UniSTS
D5S2282E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375138,855,599 - 138,855,735UniSTSGRCh37
Build 365138,835,783 - 138,835,919RGDNCBI36
Celera5134,930,644 - 134,930,780RGD
Cytogenetic Map5q31.2UniSTS
HuRef5133,998,437 - 133,998,573UniSTS
D5S2676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375138,855,649 - 138,855,787UniSTSGRCh37
Build 365138,835,833 - 138,835,971RGDNCBI36
Celera5134,930,694 - 134,930,832RGD
Cytogenetic Map5q31.2UniSTS
HuRef5133,998,487 - 133,998,625UniSTS
WI-14299  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375138,855,129 - 138,855,278UniSTSGRCh37
Build 365138,835,313 - 138,835,462RGDNCBI36
Celera5134,930,174 - 134,930,323RGD
Cytogenetic Map5q31.2UniSTS
HuRef5133,997,967 - 133,998,116UniSTS
GeneMap99-GB4 RH Map5527.97UniSTS
Whitehead-RH Map5437.0UniSTS
NCBI RH Map5891.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2247 4969 1726 2351 5 624 1923 465 2269 7281 6449 53 3727 1 852 1739 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001367258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC138517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE548954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI905932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM149879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM708269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM981219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU731116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ222241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF430638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF360993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF622062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH201427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH201428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH201429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON638921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ970152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ490399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ490400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000330794   ⟹   ENSP00000331288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,533 - 139,482,758 (-)Ensembl
Ensembl Acc Id: ENST00000502362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,565 - 139,482,344 (-)Ensembl
Ensembl Acc Id: ENST00000502825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,477,483 - 139,481,087 (-)Ensembl
Ensembl Acc Id: ENST00000503287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,476,345 - 139,481,461 (-)Ensembl
Ensembl Acc Id: ENST00000503838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,479,170 - 139,481,349 (-)Ensembl
Ensembl Acc Id: ENST00000507297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,534 - 139,482,698 (-)Ensembl
Ensembl Acc Id: ENST00000509573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,476,026 - 139,481,368 (-)Ensembl
Ensembl Acc Id: ENST00000510817   ⟹   ENSP00000427455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,476,362 - 139,481,704 (-)Ensembl
Ensembl Acc Id: ENST00000511850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,478,462 - 139,482,296 (-)Ensembl
Ensembl Acc Id: ENST00000511886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,476,070 - 139,482,758 (-)Ensembl
Ensembl Acc Id: ENST00000512606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,560 - 139,482,310 (-)Ensembl
Ensembl Acc Id: ENST00000514119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,771 - 139,482,293 (-)Ensembl
Ensembl Acc Id: ENST00000514348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,481,419 - 139,482,935 (-)Ensembl
Ensembl Acc Id: ENST00000514542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,481,846 - 139,482,720 (-)Ensembl
Ensembl Acc Id: ENST00000515507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,478,368 - 139,482,310 (-)Ensembl
Ensembl Acc Id: ENST00000650883   ⟹   ENSP00000499142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,561 - 139,482,599 (-)Ensembl
Ensembl Acc Id: ENST00000651565   ⟹   ENSP00000498768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,588 - 139,482,689 (-)Ensembl
Ensembl Acc Id: ENST00000651699   ⟹   ENSP00000499166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,638 - 139,482,361 (-)Ensembl
Ensembl Acc Id: ENST00000652110   ⟹   ENSP00000498513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,788 - 139,482,299 (-)Ensembl
Ensembl Acc Id: ENST00000652271   ⟹   ENSP00000498596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,575 - 139,482,173 (-)Ensembl
Ensembl Acc Id: ENST00000652293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,577 - 139,479,836 (-)Ensembl
Ensembl Acc Id: ENST00000652543   ⟹   ENSP00000498683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,967 - 139,482,717 (-)Ensembl
Ensembl Acc Id: ENST00000652640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5139,475,589 - 139,479,602 (-)Ensembl
RefSeq Acc Id: NM_001301738   ⟹   NP_001288667
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,475,533 - 139,482,758 (-)NCBI
CHM1_15138,287,678 - 138,294,459 (-)NCBI
T2T-CHM13v2.05140,000,594 - 140,007,823 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001367258   ⟹   NP_001354187
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,475,533 - 139,482,758 (-)NCBI
T2T-CHM13v2.05140,000,594 - 140,007,823 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198282   ⟹   NP_938023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,475,533 - 139,482,758 (-)NCBI
GRCh375138,855,113 - 138,862,343 (-)RGD
GRCh375138,855,113 - 138,862,343 (-)NCBI
Build 365138,835,733 - 138,842,476 (-)NCBI Archive
Celera5134,930,158 - 134,937,391 (-)RGD
HuRef5133,997,951 - 134,005,182 (-)ENTREZGENE
CHM1_15138,287,678 - 138,294,947 (-)NCBI
T2T-CHM13v2.05140,000,594 - 140,007,823 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001288667 (Get FASTA)   NCBI Sequence Viewer  
  NP_001354187 (Get FASTA)   NCBI Sequence Viewer  
  NP_938023 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH47779 (Get FASTA)   NCBI Sequence Viewer  
  ACI46648 (Get FASTA)   NCBI Sequence Viewer  
  AHB86590 (Get FASTA)   NCBI Sequence Viewer  
  AVP27529 (Get FASTA)   NCBI Sequence Viewer  
  AVQ94753 (Get FASTA)   NCBI Sequence Viewer  
  AZQ04904 (Get FASTA)   NCBI Sequence Viewer  
  AZQ04905 (Get FASTA)   NCBI Sequence Viewer  
  AZQ04906 (Get FASTA)   NCBI Sequence Viewer  
  BAF83350 (Get FASTA)   NCBI Sequence Viewer  
  CAE11656 (Get FASTA)   NCBI Sequence Viewer  
  EAW62098 (Get FASTA)   NCBI Sequence Viewer  
  EAW62099 (Get FASTA)   NCBI Sequence Viewer  
  EAW62100 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000331288
  ENSP00000331288.4
  ENSP00000498513
  ENSP00000498513.1
  ENSP00000498596.1
  ENSP00000498683.1
  ENSP00000498768
  ENSP00000498768.1
  ENSP00000499142.1
  ENSP00000499166.1
  ENSP00000499985.1
  ENSP00000500450.1
  ENSP00000500679.1
  ENSP00000500685.1
  ENSP00000500691.1
  ENSP00000500793.1
  ENSP00000500823.1
  ENSP00000500885.1
GenBank Protein Q86WV6 (Get FASTA)   NCBI Sequence Viewer  
  WLO36094 (Get FASTA)   NCBI Sequence Viewer  
  WWC53326 (Get FASTA)   NCBI Sequence Viewer  
  XKH16010 (Get FASTA)   NCBI Sequence Viewer  
  XKH16011 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_938023   ⟸   NM_198282
- Peptide Label: isoform 1
- UniProtKB: D6RE01 (UniProtKB/Swiss-Prot),   D6RBX0 (UniProtKB/Swiss-Prot),   B6EB35 (UniProtKB/Swiss-Prot),   A8K3P6 (UniProtKB/Swiss-Prot),   D6RID9 (UniProtKB/Swiss-Prot),   Q86WV6 (UniProtKB/Swiss-Prot),   A0A2R3XZB7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288667   ⟸   NM_001301738
- Peptide Label: isoform 2
- UniProtKB: V5V0K2 (UniProtKB/TrEMBL),   J3QTB1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001354187   ⟸   NM_001367258
- Peptide Label: isoform 3 precursor
- UniProtKB: A0A494C0W5 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000499142   ⟸   ENST00000650883
Ensembl Acc Id: ENSP00000499166   ⟸   ENST00000651699
Ensembl Acc Id: ENSP00000498768   ⟸   ENST00000651565
Ensembl Acc Id: ENSP00000498596   ⟸   ENST00000652271
Ensembl Acc Id: ENSP00000498513   ⟸   ENST00000652110
Ensembl Acc Id: ENSP00000498683   ⟸   ENST00000652543
Ensembl Acc Id: ENSP00000427455   ⟸   ENST00000510817
Ensembl Acc Id: ENSP00000331288   ⟸   ENST00000330794

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86WV6-F1-model_v2 AlphaFold Q86WV6 1-379 view protein structure

Promoters
RGD ID:6814761
Promoter ID:HG_XEF:6520
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:NM_001109122,   NM_001142838,   NM_028261
Position:
Human AssemblyChrPosition (strand)Source
Build 365138,841,146 - 138,841,977 (-)MPROMDB
RGD ID:6870762
Promoter ID:EPDNEW_H8546
Type:initiation region
Name:TMEM173_2
Description:transmembrane protein 173
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8547  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,482,310 - 139,482,370EPDNEW
RGD ID:6870764
Promoter ID:EPDNEW_H8547
Type:initiation region
Name:TMEM173_1
Description:transmembrane protein 173
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8546  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,482,758 - 139,482,818EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27962 AgrOrtholog
COSMIC STING1 COSMIC
Ensembl Genes ENSG00000184584 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000288243 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000330794 ENTREZGENE
  ENST00000330794.9 UniProtKB/Swiss-Prot
  ENST00000650883.1 UniProtKB/TrEMBL
  ENST00000651565 ENTREZGENE
  ENST00000651565.1 UniProtKB/TrEMBL
  ENST00000651699.1 UniProtKB/Swiss-Prot
  ENST00000652110 ENTREZGENE
  ENST00000652110.1 UniProtKB/TrEMBL
  ENST00000652271.1 UniProtKB/Swiss-Prot
  ENST00000652543.1 UniProtKB/TrEMBL
  ENST00000671936.1 UniProtKB/TrEMBL
  ENST00000672096.1 UniProtKB/Swiss-Prot
  ENST00000672102.1 UniProtKB/Swiss-Prot
  ENST00000672611.1 UniProtKB/TrEMBL
  ENST00000672624.1 UniProtKB/TrEMBL
  ENST00000672865.1 UniProtKB/Swiss-Prot
  ENST00000673377.1 UniProtKB/TrEMBL
  ENST00000673523.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.5200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.12100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184584 GTEx
  ENSG00000288243 GTEx
HGNC ID HGNC:27962 ENTREZGENE
Human Proteome Map STING1 Human Proteome Map
InterPro STING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STING_C_chordates UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STING_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:340061 UniProtKB/Swiss-Prot
NCBI Gene 340061 ENTREZGENE
OMIM 612374 OMIM
PANTHER PTHR34339 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STIMULATOR OF INTERFERON GENES PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TMEM173 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166352200 PharmGKB
RNAcentral URS00008B50E0 RNACentral
  URS00008B72EC RNACentral
  URS0001957568 RNACentral
UniProt A0A2R3XZB7 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C0T1_HUMAN UniProtKB/TrEMBL
  A0A494C0W5 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C1N5_HUMAN UniProtKB/TrEMBL
  A8K3P6 ENTREZGENE
  B6EB35 ENTREZGENE
  D6RBX0 ENTREZGENE
  D6RE01 ENTREZGENE
  D6RID9 ENTREZGENE
  J3QTB1 ENTREZGENE, UniProtKB/TrEMBL
  Q86WV6 ENTREZGENE, UniProtKB/Swiss-Prot
  V5V0K2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K3P6 UniProtKB/Swiss-Prot
  B6EB35 UniProtKB/Swiss-Prot
  D6RBX0 UniProtKB/Swiss-Prot
  D6RE01 UniProtKB/Swiss-Prot
  D6RID9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-09-03 STING1  stimulator of interferon response cGAMP interactor 1  TMEM173  transmembrane protein 173  Symbol and/or name change 5135510 APPROVED