ELANE (elastase, neutrophil expressed) - Rat Genome Database

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Gene: ELANE (elastase, neutrophil expressed) Homo sapiens
Analyze
Symbol: ELANE
Name: elastase, neutrophil expressed
RGD ID: 1317469
HGNC Page HGNC
Description: Exhibits several functions, including heparin binding activity; protease binding activity; and transcription corepressor activity. Involved in several processes, including defense response to Gram-negative bacterium; positive regulation of smooth muscle cell proliferation; and regulation of gene expression. Localizes to several cellular components, including cell surface; secretory granule; and transcription repressor complex. Implicated in cyclic hematopoiesis; periodontitis; severe congenital neutropenia; and severe congenital neutropenia 1. Biomarker of COVID-19; disseminated intravascular coagulation; essential thrombocythemia; polycythemia vera; and severe congenital neutropenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bone marrow serine protease; ELA2; elastase 2, neutrophil; elastase-2; GE; granulocyte-derived elastase; HLE; HNE; human leukocyte elastase; leukocyte elastase; medullasin; NE; neutrophil elastase; PMN elastase; PMN-E; polymorphonuclear elastase; polymorphonuclear leukocyte elastase; SCN1
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl19851,014 - 856,247 (+)EnsemblGRCh38hg38GRCh38
GRCh3819850,997 - 856,250 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719852,303 - 856,243 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619803,291 - 807,246 (+)NCBINCBI36hg18NCBI36
Build 3419803,290 - 807,244NCBI
Celera19777,442 - 781,374 (+)NCBI
Cytogenetic Map19p13.3NCBI
HuRef19621,154 - 625,109 (+)NCBIHuRef
CHM1_119851,610 - 855,840 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormality of the mouth  (IAGP)
Acute lymphoblastic leukemia  (IAGP)
Acute monocytic leukemia  (IAGP)
Acute myeloid leukemia  (IAGP)
Anemia  (IAGP)
Antineutrophil antibody positivity  (IAGP)
Aplastic anemia  (IAGP)
Atrophy of alveolar ridges  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bacteremia  (IAGP)
Bone pain  (IAGP)
Cellulitis  (IAGP)
Cervical lymphadenopathy  (IAGP)
Congenital agranulocytosis  (IAGP)
Cyclic neutropenia  (IAGP)
Decreased eosinophil count  (IAGP)
Diarrhea  (IAGP)
Enterocolitis  (IAGP)
Eosinophilia  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Gingivitis  (IAGP)
Growth abnormality  (IAGP)
Headache  (IAGP)
Hemangioma  (IAGP)
Increased circulating antibody level  (IAGP)
Infantile onset  (IAGP)
Lymphopenia  (IAGP)
Monocytosis  (IAGP)
Myelodysplasia  (IAGP)
Neutropenia  (IAGP)
Opportunistic infection  (IAGP)
Oral ulcer  (IAGP)
Osteopenia  (IAGP)
Otitis media  (IAGP)
Perianal abscess  (IAGP)
Periodic fever  (IAGP)
Periodontitis  (IAGP)
Peritonitis  (IAGP)
Pharyngitis  (IAGP)
Pneumonia  (IAGP)
Premature loss of permanent teeth  (IAGP)
Premature loss of teeth  (IAGP)
Pyoderma gangrenosum  (IAGP)
Recurrent aphthous stomatitis  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent ear infections  (IAGP)
Recurrent infection of the gastrointestinal tract  (IAGP)
Recurrent sinopulmonary infections  (IAGP)
Recurrent skin infections  (IAGP)
Recurrent tonsillitis  (IAGP)
Recurrent viral infections  (IAGP)
Respiratory tract infection  (IAGP)
Rhinitis  (IAGP)
Sepsis  (IAGP)
Severe infection  (IAGP)
Sinusitis  (IAGP)
Thrombocytopenia  (IAGP)
Thrombocytosis  (IAGP)
Tooth abscess  (IAGP)
References

References - curated
1. Belaaouaj A, etal., Nat Med. 1998 May;4(5):615-8.
2. Chen HM, etal., Shock. 1999 Dec;12(6):462-7.
3. Cho HK and Jeon IS, J Korean Med Sci. 2014 Mar;29(3):452-5. doi: 10.3346/jkms.2014.29.3.452. Epub 2014 Feb 27.
4. Chung MC, etal., FEMS Immunol Med Microbiol. 2008 Dec;54(3):309-18. doi: 10.1111/j.1574-695X.2008.00480.x.
5. Crinnion JN, etal., Cardiovasc Surg. 1994 Dec;2(6):749-53.
6. Fraser DD, etal., Crit Care Explor. 2020 Jun 22;2(6):e0144. doi: 10.1097/CCE.0000000000000144. eCollection 2020 Jun.
7. GOA_HUMAN data from the GO Consortium
8. Guo L, etal., Dig Dis Sci. 1995 Oct;40(10):2177-83.
9. Harada N, etal., Shock. 2008 Oct;30(4):379-87. doi: 10.1097/SHK.0b013e3181673e2c.
10. Hayakawa M, etal., Surgery. 2011 Feb;149(2):221-30. doi: 10.1016/j.surg.2010.06.010. Epub 2010 Jul 23.
11. Hayama T, etal., Transplant Proc. 2006 Sep;38(7):2201-2.
12. Hirahashi J, etal., Circulation. 2009 Sep 29;120(13):1255-65. Epub 2009 Sep 14.
13. Honore S, etal., Shock. 2004 Aug;22(2):131-6.
14. Horwitz M, etal., Nat Genet. 1999 Dec;23(4):433-6.
15. Jo YJ, etal., Int Immunopharmacol. 2008 Jul;8(7):959-66. doi: 10.1016/j.intimp.2008.02.014. Epub 2008 Mar 27.
16. Kaynar AM, etal., Am J Respir Cell Mol Biol. 2008 Jul;39(1):53-60. doi: 10.1165/rcmb.2007-0315OC. Epub 2008 Feb 14.
17. Kono T, etal., Mol Cell Biochem. 2008 Apr;311(1-2):87-92. doi: 10.1007/s11010-007-9698-9. Epub 2007 Dec 30.
18. Kuraki T, etal., Am J Respir Crit Care Med. 2002 Aug 15;166(4):496-500.
19. Kurnikova M, etal., Pediatr Blood Cancer. 2011 Aug;57(2):332-5. doi: 10.1002/pbc.23104. Epub 2011 Mar 21.
20. Liu W, etal., J Lab Clin Med. 1998 Nov;132(5):432-9.
21. Marchetti M, etal., Blood. 2008 Nov 15;112(10):4061-8. doi: 10.1182/blood-2008-06-164087. Epub 2008 Sep 3.
22. Matayoshi H, etal., Brain Res. 2009 Mar 9;1259:98-106. doi: 10.1016/j.brainres.2008.12.070. Epub 2009 Jan 10.
23. Mori H, etal., Eur J Cardiothorac Surg. 2007 Nov;32(5):791-5. Epub 2007 Sep 20.
24. Oliveira C, etal., Br J Pharmacol. 2010 Oct;161(4):899-910. doi: 10.1111/j.1476-5381.2010.00924.x.
25. OMIM Disease Annotation Pipeline
26. Pipeline to import KEGG annotations from KEGG into RGD
27. Prufer S, etal., Immunobiology. 2014 Feb;219(2):87-96. doi: 10.1016/j.imbio.2013.08.010. Epub 2013 Aug 30.
28. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
29. RGD automated import pipeline for gene-chemical interactions
30. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
31. Shimakura A, etal., Brain Res. 2000 Mar 6;858(1):55-60.
32. Skokowa J, etal., Blood. 2009 Oct 1;114(14):3044-51. doi: 10.1182/blood-2008-11-188755. Epub 2009 Jul 20.
33. Song JS, etal., Exp Lung Res. 2009 Dec;35(10):817-29. doi: 10.3109/01902140902912527.
34. Takahasi H, etal., J Trauma. 2000 Jul;49(1):86-91.
35. Taoka Y, etal., Brain Res. 1998 Jul 20;799(2):264-9.
36. Toda Y, etal., Int J Mol Med. 2007 Feb;19(2):237-43.
37. Tsuji M, etal., Arch Oral Biol. 2009 Dec;54(12):1128-35. doi: 10.1016/j.archoralbio.2009.10.003. Epub 2009 Nov 12.
38. Yamamoto H, etal., Eur J Pharmacol. 2000 Dec 8;409(2):179-83.
39. Yang YL, etal., J Biomed Sci. 2008 Jul;15(4):499-507. doi: 10.1007/s11373-008-9238-y. Epub 2008 Feb 19.
40. Ye Y, etal., J Clin Immunol. 2011 Dec;31(6):936-45. doi: 10.1007/s10875-011-9572-0. Epub 2011 Jul 29.
Additional References at PubMed
PMID:1518849   PMID:1558967   PMID:1859409   PMID:2164060   PMID:2318847   PMID:2322278   PMID:2437112   PMID:2462434   PMID:2501794   PMID:2538548   PMID:2681419   PMID:2775493  
PMID:2822677   PMID:2902087   PMID:2911584   PMID:3391280   PMID:3422232   PMID:3427074   PMID:3479752   PMID:3550808   PMID:3640709   PMID:6980881   PMID:7521069   PMID:7713495  
PMID:8011628   PMID:8463250   PMID:8718849   PMID:8864963   PMID:9111002   PMID:9124593   PMID:9242537   PMID:9565572   PMID:10102815   PMID:10471600   PMID:10512713   PMID:10702419  
PMID:10859319   PMID:10867014   PMID:10924364   PMID:10978167   PMID:11001877   PMID:11389039   PMID:11520773   PMID:11675333   PMID:11846296   PMID:11907569   PMID:11928814   PMID:11948122  
PMID:12020136   PMID:12042033   PMID:12068293   PMID:12083479   PMID:12091371   PMID:12114510   PMID:12117418   PMID:12183836   PMID:12189154   PMID:12190311   PMID:12223522   PMID:12393522  
PMID:12444202   PMID:12477932   PMID:12483111   PMID:12526812   PMID:12531874   PMID:12538645   PMID:12700588   PMID:12745650   PMID:12771009   PMID:12778173   PMID:12782302   PMID:12853121  
PMID:12876407   PMID:12887060   PMID:12893759   PMID:12933574   PMID:12934194   PMID:14587040   PMID:14636558   PMID:14673143   PMID:14688365   PMID:14705961   PMID:14730209   PMID:14962902  
PMID:15010259   PMID:15059607   PMID:15131125   PMID:15140022   PMID:15161642   PMID:15203218   PMID:15245434   PMID:15489334   PMID:15595387   PMID:15601827   PMID:15614130   PMID:15657182  
PMID:15718918   PMID:15892999   PMID:15941909   PMID:16079102   PMID:16127146   PMID:16148149   PMID:16244764   PMID:16282197   PMID:16321984   PMID:16551967   PMID:16624642   PMID:16670064  
PMID:16690986   PMID:17023068   PMID:17088257   PMID:17187068   PMID:17395013   PMID:17397908   PMID:17412886   PMID:17436313   PMID:17622939   PMID:17690184   PMID:17761833   PMID:17785837  
PMID:17853021   PMID:17998887   PMID:18028488   PMID:18043239   PMID:18178964   PMID:18194283   PMID:18211966   PMID:18278188   PMID:18295791   PMID:18399311   PMID:18403643   PMID:18476621  
PMID:18485588   PMID:18669870   PMID:18710383   PMID:18799464   PMID:18980523   PMID:19056867   PMID:19132232   PMID:19180801   PMID:19197381   PMID:19251947   PMID:19307610   PMID:19362143  
PMID:19415009   PMID:19506020   PMID:19542452   PMID:19590686   PMID:19620298   PMID:19763368   PMID:19775295   PMID:19789190   PMID:20007580   PMID:20033193   PMID:20111696   PMID:20179351  
PMID:20301705   PMID:20346360   PMID:20354035   PMID:20376727   PMID:20411049   PMID:20421939   PMID:20423453   PMID:20453419   PMID:20521180   PMID:20582973   PMID:20627279   PMID:20634941  
PMID:20646231   PMID:20803142   PMID:20828556   PMID:20883273   PMID:20932306   PMID:20974816   PMID:21193404   PMID:21206270   PMID:21236472   PMID:21448199   PMID:21475777   PMID:21477798  
PMID:21488974   PMID:21576245   PMID:21605276   PMID:21731773   PMID:21843618   PMID:21873635   PMID:21979170   PMID:22174830   PMID:22407864   PMID:22500123   PMID:22683569   PMID:22915586  
PMID:22918834   PMID:22993338   PMID:22996420   PMID:23001948   PMID:23351986   PMID:23392769   PMID:23454784   PMID:23463630   PMID:23533145   PMID:23564510   PMID:23692169   PMID:23741370  
PMID:23819644   PMID:23911525   PMID:24023624   PMID:24052258   PMID:24184683   PMID:24513040   PMID:24816969   PMID:24848868   PMID:24877096   PMID:24914212   PMID:24929239   PMID:25037231  
PMID:25092677   PMID:25162927   PMID:25195861   PMID:25248056   PMID:25284053   PMID:25427142   PMID:25465717   PMID:25645918   PMID:25652853   PMID:25666548   PMID:25857284   PMID:25878251  
PMID:25893670   PMID:25912133   PMID:25956321   PMID:26018813   PMID:26174650   PMID:26193632   PMID:26221769   PMID:26269588   PMID:26372354   PMID:26444279   PMID:26567890   PMID:26874351  
PMID:26881964   PMID:26939803   PMID:27035679   PMID:27093231   PMID:27101808   PMID:27339896   PMID:27892542   PMID:27935111   PMID:27942017   PMID:28004483   PMID:28073911   PMID:28074935  
PMID:28187039   PMID:28344315   PMID:28468826   PMID:28507169   PMID:28630087   PMID:28754797   PMID:28888033   PMID:29046295   PMID:29478914   PMID:29624923   PMID:29767240   PMID:29976235  
PMID:30056589   PMID:30219097   PMID:30343390   PMID:30452386   PMID:30635825   PMID:30827416   PMID:31009763   PMID:31362723   PMID:31466461   PMID:31490025   PMID:31536960   PMID:31622584  
PMID:31626976   PMID:31658467   PMID:31749032   PMID:31842908   PMID:31887298   PMID:31945345   PMID:31963828   PMID:31991297   PMID:32203420   PMID:32299910   PMID:32303641   PMID:32924109  
PMID:32981934   PMID:33085168   PMID:33179225  


Genomics

Comparative Map Data
ELANE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl19851,014 - 856,247 (+)EnsemblGRCh38hg38GRCh38
GRCh3819850,997 - 856,250 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3719852,303 - 856,243 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619803,291 - 807,246 (+)NCBINCBI36hg18NCBI36
Build 3419803,290 - 807,244NCBI
Celera19777,442 - 781,374 (+)NCBI
Cytogenetic Map19p13.3NCBI
HuRef19621,154 - 625,109 (+)NCBIHuRef
CHM1_119851,610 - 855,840 (+)NCBICHM1_1
Elane
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,722,146 - 79,724,050 (+)NCBIGRCm39mm39
GRCm39 Ensembl1079,722,081 - 79,724,049 (+)Ensembl
GRCm381079,886,312 - 79,888,216 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,886,247 - 79,888,215 (+)EnsemblGRCm38mm10GRCm38
MGSCv371079,349,057 - 79,350,961 (+)NCBIGRCm37mm9NCBIm37
MGSCv361079,289,464 - 79,291,246 (+)NCBImm8
Celera1080,901,123 - 80,903,026 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Elane
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.279,817,251 - 9,819,174 (-)NCBI
Rnor_6.0 Ensembl712,638,322 - 12,640,232 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0712,638,320 - 12,640,168 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0712,808,042 - 12,809,890 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,329,642 - 11,331,490 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1711,329,643 - 11,331,467 (-)NCBI
Celera77,992,002 - 7,993,850 (-)NCBICelera
Cytogenetic Map7q11NCBI
ELANE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.119820,455 - 828,181 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v019276,499 - 280,598 (-)NCBIMhudiblu_PPA_v0panPan3
ELANE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,789,044 - 57,790,932 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,788,062 - 57,790,932 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,591,060 - 57,592,948 (-)NCBI
ROS_Cfam_1.02058,531,328 - 58,533,216 (-)NCBI
UMICH_Zoey_3.12057,586,105 - 57,588,011 (-)NCBI
UNSW_CanFamBas_1.02058,065,758 - 58,067,646 (-)NCBI
UU_Cfam_GSD_1.02058,268,788 - 58,270,676 (-)NCBI
ELANE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,509,344 - 77,516,027 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,513,769 - 77,516,118 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,480,250 - 77,485,906 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ELANE
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16599,392 - 604,925 (+)NCBI
ChlSab1.1 Ensembl6601,217 - 604,725 (+)Ensembl

Position Markers
RH47200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719856,092 - 856,225UniSTSGRCh37
Build 3619807,092 - 807,225RGDNCBI36
Celera19781,220 - 781,353RGD
Cytogenetic Map19p13.3UniSTS
HuRef19624,955 - 625,088UniSTS
GeneMap99-GB4 RH Map195.85UniSTS
RH77978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719856,092 - 856,226UniSTSGRCh37
Build 3619807,092 - 807,226RGDNCBI36
Celera19781,220 - 781,354RGD
Cytogenetic Map19p13.3UniSTS
HuRef19624,955 - 625,089UniSTS
GeneMap99-GB4 RH Map1918.31UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:604
Count of miRNA genes:296
Interacting mature miRNAs:302
Transcripts:ENST00000263621, ENST00000590230
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 49 65 2 1
Medium 122 600 119 11 754 9 331 94 18 1 35 407 2 124 134
Low 2024 1804 1169 303 456 147 3179 1825 1672 114 879 905 159 1 1077 2108 2
Below cutoff 154 484 323 215 124 212 578 242 1647 169 373 138 8 3 512 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC212840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY596461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI254663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD613590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D00187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU617980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263621   ⟹   ENSP00000263621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19852,303 - 856,243 (+)Ensembl
RefSeq Acc Id: ENST00000590230   ⟹   ENSP00000466090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19851,014 - 856,247 (+)Ensembl
RefSeq Acc Id: NM_001972   ⟹   NP_001963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819852,303 - 856,243 (+)NCBI
GRCh3719850,989 - 856,246 (+)NCBI
Build 3619803,291 - 807,246 (+)NCBI Archive
HuRef19621,154 - 625,109 (+)ENTREZGENE
CHM1_119851,610 - 855,840 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527775   ⟹   XP_011526077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819850,997 - 856,250 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527776   ⟹   XP_011526078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819851,019 - 856,250 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001963   ⟸   NM_001972
- Peptide Label: preproprotein
- UniProtKB: P08246 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526077   ⟸   XM_011527775
- Peptide Label: isoform X1
- UniProtKB: P08246 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526078   ⟸   XM_011527776
- Peptide Label: isoform X1
- UniProtKB: P08246 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000466090   ⟸   ENST00000590230
RefSeq Acc Id: ENSP00000263621   ⟸   ENST00000263621
Protein Domains
Peptidase S1

Promoters
RGD ID:7237743
Promoter ID:EPDNEW_H24617
Type:initiation region
Name:ELANE_1
Description:elastase, neutrophil expressed
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819852,303 - 852,363EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001972.4(ELANE):c.67+1del deletion not provided [RCV000254820] Chr19:852391 [GRCh38]
Chr19:852391 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.176T>G (p.Leu59Arg) single nucleotide variant not provided [RCV000519150] Chr19:852984 [GRCh38]
Chr19:852984 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln) single nucleotide variant Cyclical neutropenia [RCV000018222]|Cyclical neutropenia [RCV001053631]|not provided [RCV000522053] Chr19:856019 [GRCh38]
Chr19:856019 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.618G>T (p.Leu206Phe) single nucleotide variant Cyclical neutropenia [RCV000018223] Chr19:855978 [GRCh38]
Chr19:855978 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.182C>T (p.Ala61Val) single nucleotide variant Cyclical neutropenia [RCV000018224]|Cyclical neutropenia [RCV000693181] Chr19:852990 [GRCh38]
Chr19:852990 [GRCh37]
Chr19:19p13.3
pathogenic
ELANE, IVS4DS, G-A, +1 single nucleotide variant Cyclical neutropenia [RCV000018225] Chr19:19p13.3 pathogenic
ELANE, IVS4DS, G-A, +5 single nucleotide variant Cyclical neutropenia [RCV000018226] Chr19:19p13.3 pathogenic
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) single nucleotide variant Cyclical neutropenia [RCV000763443]|Neutropenia, severe congenital 1, autosomal dominant [RCV000018227]|not provided [RCV000220001] Chr19:855613 [GRCh38]
Chr19:855613 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic
NM_001972.4(ELANE):c.214G>A (p.Val72Met) single nucleotide variant Neutropenia, severe congenital 1, autosomal dominant [RCV000018228] Chr19:853022 [GRCh38]
Chr19:853022 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) single nucleotide variant Cyclical neutropenia [RCV000694593]|Cyclical neutropenia [RCV000990116]|Neutropenia, severe congenital 1, autosomal dominant [RCV000018229]|not specified [RCV000508432] Chr19:855574 [GRCh38]
Chr19:855574 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg) single nucleotide variant Neutropenia, severe congenital 1, autosomal dominant [RCV000018230] Chr19:853019 [GRCh38]
Chr19:853019 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg) single nucleotide variant Cyclical neutropenia [RCV001336413]|Neutropenia, severe congenital 1, autosomal dominant [RCV000018232]|not provided [RCV000214338] Chr19:856000 [GRCh38]
Chr19:856000 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.16C>A (p.Arg6=) single nucleotide variant Cyclical neutropenia [RCV000545761] Chr19:852344 [GRCh38]
Chr19:852344 [GRCh37]
Chr19:19p13.3
benign
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:677680-899104)x3 copy number gain See cases [RCV000054105] Chr19:677680..899104 [GRCh38]
Chr19:677680..899104 [GRCh37]
Chr19:628680..850104 [NCBI36]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3
pathogenic
NM_001972.3(ELANE):c.-38-3C>A single nucleotide variant none provided [RCV001283160]|not specified [RCV000124882] Chr19:852288 [GRCh38]
Chr19:852288 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.126C>T (p.Pro42=) single nucleotide variant not specified [RCV000124877] Chr19:852934 [GRCh38]
Chr19:852934 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.606C>A (p.Ser202=) single nucleotide variant none provided [RCV001282643]|not specified [RCV000247387] Chr19:855966 [GRCh38]
Chr19:855966 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.606C>T (p.Ser202=) single nucleotide variant Cyclical neutropenia [RCV000644046]|not specified [RCV000124879] Chr19:855966 [GRCh38]
Chr19:855966 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001972.4(ELANE):c.655G>A (p.Val219Ile) single nucleotide variant Cyclical neutropenia [RCV000644047]|Cyclical neutropenia [RCV000990118]|none provided [RCV001282810]|not specified [RCV000124880] Chr19:856015 [GRCh38]
Chr19:856015 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu) single nucleotide variant Cyclical neutropenia [RCV001079659]|none provided [RCV000756069]|not specified [RCV000124881] Chr19:856145 [GRCh38]
Chr19:856145 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001972.4(ELANE):c.556G>A (p.Val186Ile) single nucleotide variant Cyclical neutropenia [RCV001231517]|not provided [RCV000766904]|not specified [RCV000255381] Chr19:855753 [GRCh38]
Chr19:855753 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.52G>C (p.Ala18Pro) single nucleotide variant Cyclical neutropenia [RCV000190505] Chr19:852380 [GRCh38]
Chr19:852380 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter) single nucleotide variant Neutropenia, severe congenital 1, autosomal dominant [RCV000190507] Chr19:855758 [GRCh38]
Chr19:855758 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.661G>T (p.Gly221Ter) single nucleotide variant Cyclical neutropenia [RCV001348182] Chr19:856021 [GRCh38]
Chr19:856021 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh38/hg38 19p13.3(chr19:839492-995558)x1 copy number loss See cases [RCV000134491] Chr19:839492..995558 [GRCh38]
Chr19:839492..995557 [GRCh37]
Chr19:790492..946557 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3
likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1 copy number loss See cases [RCV000136733] Chr19:786550..1297500 [GRCh38]
Chr19:786550..1297499 [GRCh37]
Chr19:737550..1248499 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3
pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.598-3C>G single nucleotide variant Cyclical neutropenia [RCV000157220] Chr19:855955 [GRCh38]
Chr19:855955 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:823554-1206859)x3 copy number gain See cases [RCV000203438] Chr19:823554..1206859 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.174C>T (p.Thr58=) single nucleotide variant Cyclical neutropenia [RCV000556285] Chr19:852982 [GRCh38]
Chr19:852982 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.235G>T (p.Ala79Ser) single nucleotide variant not provided [RCV000756070] Chr19:853272 [GRCh38]
Chr19:853272 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.598-1G>A single nucleotide variant X-linked severe congenital neutropenia [RCV000215566]|not provided [RCV000578634] Chr19:855957 [GRCh38]
Chr19:855957 [GRCh37]
Chr19:19p13.3
pathogenic|uncertain significance
NM_001972.4(ELANE):c.22G>A (p.Ala8Thr) single nucleotide variant not provided [RCV000227588] Chr19:852350 [GRCh38]
Chr19:852350 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.431G>A (p.Arg144His) single nucleotide variant Cyclical neutropenia [RCV000811728]|not provided [RCV000228382] Chr19:855628 [GRCh38]
Chr19:855628 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) single nucleotide variant Cyclical neutropenia [RCV001047749]|not provided [RCV000229821] Chr19:853025 [GRCh38]
Chr19:853025 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_001972.4(ELANE):c.23C>T (p.Ala8Val) single nucleotide variant none provided [RCV001286530]|not provided [RCV000230281] Chr19:852351 [GRCh38]
Chr19:852351 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.140T>C (p.Leu47Pro) single nucleotide variant not provided [RCV000225846] Chr19:852948 [GRCh38]
Chr19:852948 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.258_269dup (p.His87_Ser90dup) duplication not provided [RCV000226787] Chr19:853293..853294 [GRCh38]
Chr19:853293..853294 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.558C>A (p.Val186=) single nucleotide variant not provided [RCV000226863] Chr19:855755 [GRCh38]
Chr19:855755 [GRCh37]
Chr19:19p13.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001972.4(ELANE):c.137C>A (p.Ser46Tyr) single nucleotide variant not provided [RCV000227061] Chr19:852945 [GRCh38]
Chr19:852945 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.578G>A (p.Arg193Gln) single nucleotide variant Cyclical neutropenia [RCV001089076]|not provided [RCV000227502] Chr19:855775 [GRCh38]
Chr19:855775 [GRCh37]
Chr19:19p13.3
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001972.4(ELANE):c.568G>A (p.Val190Met) single nucleotide variant not provided [RCV000231022] Chr19:855765 [GRCh38]
Chr19:855765 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe) single nucleotide variant not provided [RCV000228283] Chr19:853020 [GRCh38]
Chr19:853020 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.605C>T (p.Ser202Phe) single nucleotide variant not provided [RCV000228433] Chr19:855965 [GRCh38]
Chr19:855965 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.452G>T (p.Cys151Phe) single nucleotide variant not provided [RCV000228921] Chr19:855649 [GRCh38]
Chr19:855649 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.502G>A (p.Val168Ile) single nucleotide variant not provided [RCV000231895] Chr19:855699 [GRCh38]
Chr19:855699 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.597+1G>A single nucleotide variant Cyclical neutropenia [RCV000018225]|Cyclical neutropenia [RCV000820899]|Neutropenia, severe congenital 1, autosomal dominant [RCV001267759]|not provided [RCV000229570] Chr19:855795 [GRCh38]
Chr19:855795 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln) single nucleotide variant not provided [RCV000232115] Chr19:853312 [GRCh38]
Chr19:853312 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.437G>A (p.Gly146Asp) single nucleotide variant not provided [RCV000232361] Chr19:855634 [GRCh38]
Chr19:855634 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys) single nucleotide variant not provided [RCV000232534] Chr19:855624 [GRCh38]
Chr19:855624 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.573G>C (p.Arg191Ser) single nucleotide variant not provided [RCV000232592] Chr19:855770 [GRCh38]
Chr19:855770 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe) single nucleotide variant Cyclical neutropenia [RCV000876362]|not specified [RCV000233554] Chr19:856106 [GRCh38]
Chr19:856106 [GRCh37]
Chr19:19p13.3
likely pathogenic|likely benign|uncertain significance
NM_001972.4(ELANE):c.407C>T (p.Ala136Val) single nucleotide variant not provided [RCV000233854] Chr19:855604 [GRCh38]
Chr19:855604 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.442G>A (p.Gly148Arg) single nucleotide variant not specified [RCV000226068] Chr19:855639 [GRCh38]
Chr19:855639 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.77T>C (p.Leu26Pro) single nucleotide variant not provided [RCV000234442] Chr19:852885 [GRCh38]
Chr19:852885 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.336_359del (p.Asn113_Ile120del) deletion not provided [RCV000234597] Chr19:853372..853395 [GRCh38]
Chr19:853372..853395 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.597+20C>T single nucleotide variant not specified [RCV000235665] Chr19:855814 [GRCh38]
Chr19:855814 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.60G>A (p.Leu20=) single nucleotide variant not specified [RCV000236034] Chr19:852388 [GRCh38]
Chr19:852388 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.597+5G>A single nucleotide variant Cyclical neutropenia [RCV000018226]|Cyclical neutropenia [RCV000544821]|Neutropenia [RCV001003809]|not provided [RCV000236267] Chr19:855799 [GRCh38]
Chr19:855799 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic
NM_001972.4(ELANE):c.597+1G>C single nucleotide variant not provided [RCV000237098] Chr19:855795 [GRCh38]
Chr19:855795 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3
pathogenic
NC_000019.9:g.(?_852323)_(1207208_?)dup duplication Peutz-Jeghers syndrome [RCV000527991] Chr19:852323..1207208 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.171C>T (p.Ala57=) single nucleotide variant not provided [RCV000644045]|not specified [RCV000251221] Chr19:852979 [GRCh38]
Chr19:852979 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001972.4(ELANE):c.742C>T (p.Arg248Cys) single nucleotide variant not specified [RCV000251857] Chr19:856102 [GRCh38]
Chr19:856102 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.99C>T (p.Gly33=) single nucleotide variant Cyclical neutropenia [RCV000644049]|none provided [RCV001282835]|not specified [RCV000252023] Chr19:852907 [GRCh38]
Chr19:852907 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.628G>A (p.Gly210Arg) single nucleotide variant not provided [RCV000255959] Chr19:855988 [GRCh38]
Chr19:855988 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.390C>T (p.Asn130=) single nucleotide variant Cyclical neutropenia [RCV000530208]|none provided [RCV001283136]|not specified [RCV000242403] Chr19:855587 [GRCh38]
Chr19:855587 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.654C>T (p.Phe218=) single nucleotide variant Cyclical neutropenia [RCV000644048]|not specified [RCV000242718] Chr19:856014 [GRCh38]
Chr19:856014 [GRCh37]
Chr19:19p13.3
benign|likely benign
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) single nucleotide variant Cyclical neutropenia [RCV001086933]|none provided [RCV001283137]|not provided [RCV000444348]|not specified [RCV000243329] Chr19:856130 [GRCh38]
Chr19:856130 [GRCh37]
Chr19:19p13.3
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.290A>C (p.Gln97Pro) single nucleotide variant not provided [RCV000489490] Chr19:853327 [GRCh38]
Chr19:853327 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001269610] Chr19:852330 [GRCh38]
Chr19:852330 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.265C>T (p.Leu89Phe) single nucleotide variant not provided [RCV000489799] Chr19:853302 [GRCh38]
Chr19:853302 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.137C>T (p.Ser46Phe) single nucleotide variant not provided [RCV000413867] Chr19:852945 [GRCh38]
Chr19:852945 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.3(ELANE):c.600_601dupGG (p.Asp201Glyfs) duplication not provided [RCV000413923] Chr19:855956..855957 [GRCh38]
Chr19:855956..855957 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.*15G>T single nucleotide variant not specified [RCV000418532] Chr19:856179 [GRCh38]
Chr19:856179 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.170C>T (p.Ala57Val) single nucleotide variant not provided [RCV000429848] Chr19:852978 [GRCh38]
Chr19:852978 [GRCh37]
Chr19:19p13.3
pathogenic|likely pathogenic
NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro) inversion not provided [RCV000483486] Chr19:855778..855779 [GRCh38]
Chr19:855778..855779 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro) single nucleotide variant Cyclical neutropenia [RCV001061898]|not provided [RCV000482349] Chr19:853288 [GRCh38]
Chr19:853288 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_001972.4(ELANE):c.456G>A (p.Leu152=) single nucleotide variant not provided [RCV000766906]|not specified [RCV000485469] Chr19:855653 [GRCh38]
Chr19:855653 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg) single nucleotide variant Cyclical neutropenia [RCV000822744]|not provided [RCV000523047] Chr19:855687 [GRCh38]
Chr19:855687 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.308G>T (p.Arg103Leu) single nucleotide variant not provided [RCV000478914] Chr19:853345 [GRCh38]
Chr19:853345 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.627C>T (p.Asn209=) single nucleotide variant not specified [RCV000501474] Chr19:855987 [GRCh38]
Chr19:855987 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.375G>A (p.Gly125=) single nucleotide variant not provided [RCV000868380]|not specified [RCV000503923] Chr19:855572 [GRCh38]
Chr19:855572 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.68-12G>T single nucleotide variant not specified [RCV000499469] Chr19:852864 [GRCh38]
Chr19:852864 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.338A>T (p.Asn113Ile) single nucleotide variant not specified [RCV000500242] Chr19:853375 [GRCh38]
Chr19:853375 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.21C>T (p.Leu7=) single nucleotide variant not specified [RCV000502498] Chr19:852349 [GRCh38]
Chr19:852349 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.305A>C (p.Gln102Pro) single nucleotide variant not provided [RCV000498633] Chr19:853342 [GRCh38]
Chr19:853342 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.472C>G (p.Leu158Val) single nucleotide variant not provided [RCV000493766] Chr19:855669 [GRCh38]
Chr19:855669 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.358A>T (p.Ile120Phe) single nucleotide variant not provided [RCV000493833] Chr19:853395 [GRCh38]
Chr19:853395 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.241C>T (p.Arg81Trp) single nucleotide variant not provided [RCV000493843] Chr19:853278 [GRCh38]
Chr19:853278 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.641G>T (p.Gly214Val) single nucleotide variant not specified [RCV000508068] Chr19:856001 [GRCh38]
Chr19:856001 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.157C>T (p.His53Tyr) single nucleotide variant not provided [RCV000493329] Chr19:852965 [GRCh38]
Chr19:852965 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.428G>A (p.Arg143His) single nucleotide variant Cyclical neutropenia [RCV000806486]|not specified [RCV000606696] Chr19:855625 [GRCh38]
Chr19:855625 [GRCh37]
Chr19:19p13.3
likely benign|uncertain significance
NM_001972.4(ELANE):c.784C>T (p.Pro262Ser) single nucleotide variant not provided [RCV000644037] Chr19:856144 [GRCh38]
Chr19:856144 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.235G>C (p.Ala79Pro) single nucleotide variant Cyclical neutropenia [RCV000644043] Chr19:853272 [GRCh38]
Chr19:853272 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.378G>A (p.Ser126=) single nucleotide variant Cyclical neutropenia [RCV000644038] Chr19:855575 [GRCh38]
Chr19:855575 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr) single nucleotide variant Cyclical neutropenia [RCV000644042]|Neutropenia, severe congenital 1, autosomal dominant [RCV001332066] Chr19:855649 [GRCh38]
Chr19:855649 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_001972.4(ELANE):c.68-13G>A single nucleotide variant not specified [RCV000615499] Chr19:852863 [GRCh38]
Chr19:852863 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.519C>T (p.Asn173=) single nucleotide variant not specified [RCV000600722] Chr19:855716 [GRCh38]
Chr19:855716 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.367-16G>A single nucleotide variant not specified [RCV000610464] Chr19:855548 [GRCh38]
Chr19:855548 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001972.4(ELANE):c.36C>A (p.Leu12=) single nucleotide variant not specified [RCV000608667] Chr19:852364 [GRCh38]
Chr19:852364 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.268T>C (p.Ser90Pro) single nucleotide variant not specified [RCV000611383] Chr19:853305 [GRCh38]
Chr19:853305 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.119C>T (p.Ala40Val) single nucleotide variant Cyclical neutropenia [RCV000530857] Chr19:852927 [GRCh38]
Chr19:852927 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.597+10C>G single nucleotide variant Cyclical neutropenia [RCV000866388]|not specified [RCV000608912] Chr19:855804 [GRCh38]
Chr19:855804 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.172A>C (p.Thr58Pro) single nucleotide variant Cyclical neutropenia [RCV000644039] Chr19:852980 [GRCh38]
Chr19:852980 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.38C>G (p.Ala13Gly) single nucleotide variant Cyclical neutropenia [RCV000644040] Chr19:852366 [GRCh38]
Chr19:852366 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.665G>A (p.Gly222Asp) single nucleotide variant Cyclical neutropenia [RCV000644041] Chr19:856025 [GRCh38]
Chr19:856025 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.24G>C (p.Ala8=) single nucleotide variant Cyclical neutropenia [RCV000644044] Chr19:852352 [GRCh38]
Chr19:852352 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.614C>G (p.Pro205Arg) single nucleotide variant not provided [RCV000585894] Chr19:855974 [GRCh38]
Chr19:855974 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.136_141del (p.Ser46_Leu47del) deletion not provided [RCV000658809] Chr19:852942..852947 [GRCh38]
Chr19:852942..852947 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.10G>A (p.Gly4Ser) single nucleotide variant Cyclical neutropenia [RCV000691336]|Neutropenia, severe congenital 1, autosomal dominant [RCV001332065] Chr19:852338 [GRCh38]
Chr19:852338 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_852323)_(1222011_?)del deletion Peutz-Jeghers syndrome [RCV000708465] Chr19:852323..1222011 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.364C>T (p.Gln122Ter) single nucleotide variant Cyclical neutropenia [RCV000685232] Chr19:853401 [GRCh38]
Chr19:853401 [GRCh37]
Chr19:19p13.3
pathogenic|uncertain significance
NM_001972.4(ELANE):c.419C>T (p.Ala140Val) single nucleotide variant Cyclical neutropenia [RCV000686524] Chr19:855616 [GRCh38]
Chr19:855616 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.12_14CCG[3] (p.Arg6dup) microsatellite Cyclical neutropenia [RCV000687782] Chr19:852338..852339 [GRCh38]
Chr19:852338..852339 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.748G>A (p.Glu250Lys) single nucleotide variant Cyclical neutropenia [RCV000688031] Chr19:856108 [GRCh38]
Chr19:856108 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.342G>T (p.Leu114Phe) single nucleotide variant Cyclical neutropenia [RCV000694425] Chr19:853379 [GRCh38]
Chr19:853379 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.647C>T (p.Ala216Val) single nucleotide variant Cyclical neutropenia [RCV000702301] Chr19:856007 [GRCh38]
Chr19:856007 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.637C>T (p.His213Tyr) single nucleotide variant Cyclical neutropenia [RCV000704574] Chr19:855997 [GRCh38]
Chr19:855997 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_852319)_(1226656_?)dup duplication Peutz-Jeghers syndrome [RCV000707897] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_852323)_(1226652_?)del deletion Peutz-Jeghers syndrome [RCV000708221] Chr19:852323..1226652 [GRCh37]
Chr19:19p13.3
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3(chr19:789890-859214)x3 copy number gain not provided [RCV000739945] Chr19:789890..859214 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_001972.4(ELANE):c.533C>A (p.Thr178Lys) single nucleotide variant none provided [RCV001285546] Chr19:855730 [GRCh38]
Chr19:855730 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:789890-880080)x3 copy number gain not provided [RCV000752464] Chr19:789890..880080 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:789890-941603)x3 copy number gain not provided [RCV000752465] Chr19:789890..941603 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:801381-945710)x3 copy number gain not provided [RCV000752467] Chr19:801381..945710 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:801381-1008645)x3 copy number gain not provided [RCV000752468] Chr19:801381..1008645 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:804080-879947)x3 copy number gain not provided [RCV000752469] Chr19:804080..879947 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:804908-931523)x3 copy number gain not provided [RCV000752470] Chr19:804908..931523 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:804908-1008216)x3 copy number gain not provided [RCV000752471] Chr19:804908..1008216 [GRCh37]
Chr19:19p13.3
benign
GRCh37/hg19 19p13.3(chr19:839158-857215)x1 copy number loss not provided [RCV000752472] Chr19:839158..857215 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.396C>T (p.Asn132=) single nucleotide variant not provided [RCV000867603] Chr19:855593 [GRCh38]
Chr19:855593 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.687C>T (p.Pro229=) single nucleotide variant Cyclical neutropenia [RCV000870055] Chr19:856047 [GRCh38]
Chr19:856047 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.630G>A (p.Gly210=) single nucleotide variant not provided [RCV000899740] Chr19:855990 [GRCh38]
Chr19:855990 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.372C>T (p.Asn124=) single nucleotide variant not provided [RCV000867175] Chr19:855569 [GRCh38]
Chr19:855569 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.659G>C (p.Arg220Pro) single nucleotide variant Cyclical neutropenia [RCV001056482] Chr19:856019 [GRCh38]
Chr19:856019 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.301G>A (p.Val101Met) single nucleotide variant Cyclical neutropenia [RCV001047344] Chr19:853338 [GRCh38]
Chr19:853338 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.634A>G (p.Ile212Val) single nucleotide variant Cyclical neutropenia [RCV001060361] Chr19:855994 [GRCh38]
Chr19:855994 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.702G>A (p.Pro234=) single nucleotide variant not provided [RCV000827715] Chr19:856062 [GRCh38]
Chr19:856062 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.380C>T (p.Ala127Val) single nucleotide variant Cyclical neutropenia [RCV000871370] Chr19:855577 [GRCh38]
Chr19:855577 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.9C>T (p.Leu3=) single nucleotide variant not provided [RCV000875842] Chr19:852337 [GRCh38]
Chr19:852337 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.363C>G (p.Leu121=) single nucleotide variant not provided [RCV000917451] Chr19:853400 [GRCh38]
Chr19:853400 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.380_382CCA[1] (p.Thr128del) microsatellite Cyclical neutropenia [RCV000800912] Chr19:855577..855579 [GRCh38]
Chr19:855577..855579 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.347A>G (p.Asn116Ser) single nucleotide variant Cyclical neutropenia [RCV000798071] Chr19:853384 [GRCh38]
Chr19:853384 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.430C>T (p.Arg144Cys) single nucleotide variant Cyclical neutropenia [RCV000810519] Chr19:855627 [GRCh38]
Chr19:855627 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_855938)_(856184_?)dup duplication Cyclical neutropenia [RCV000794830] Chr19:855938..856184 [GRCh38]
Chr19:855938..856184 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.10:g.852167C>T single nucleotide variant not provided [RCV000838008] Chr19:852167 [GRCh38]
Chr19:852167 [GRCh37]
Chr19:19p13.3
likely benign
NC_000019.10:g.852104C>A single nucleotide variant not provided [RCV000836576] Chr19:852104 [GRCh38]
Chr19:852104 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.366+192G>T single nucleotide variant not provided [RCV000836801] Chr19:853595 [GRCh38]
Chr19:853595 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.67+1G>T single nucleotide variant Cyclical neutropenia [RCV000792576] Chr19:852396 [GRCh38]
Chr19:852396 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.298G>A (p.Ala100Thr) single nucleotide variant Cyclical neutropenia [RCV000819675] Chr19:853335 [GRCh38]
Chr19:853335 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.493A>G (p.Ile165Val) single nucleotide variant Cyclical neutropenia [RCV000822985] Chr19:855690 [GRCh38]
Chr19:855690 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.133G>T (p.Val45Leu) single nucleotide variant not provided [RCV000788897] Chr19:852941 [GRCh38]
Chr19:852941 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.333C>G (p.Pro111=) single nucleotide variant not provided [RCV000788909] Chr19:853370 [GRCh38]
Chr19:853370 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.70A>C (p.Thr24Pro) single nucleotide variant Cyclical neutropenia [RCV000813765] Chr19:852878 [GRCh38]
Chr19:852878 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.367-1G>C single nucleotide variant Cyclical neutropenia [RCV000791550] Chr19:855563 [GRCh38]
Chr19:855563 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.64G>C (p.Gly22Arg) single nucleotide variant Cyclical neutropenia [RCV000823795] Chr19:852392 [GRCh38]
Chr19:852392 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.10:g.851976G>A single nucleotide variant not provided [RCV000826592] Chr19:851976 [GRCh38]
Chr19:851976 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.353T>A (p.Ile118Asn) single nucleotide variant Cyclical neutropenia [RCV000805040] Chr19:853390 [GRCh38]
Chr19:853390 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.589G>A (p.Val197Ile) single nucleotide variant Cyclical neutropenia [RCV000798193] Chr19:855786 [GRCh38]
Chr19:855786 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.68-107_68-85del microsatellite not provided [RCV000829572] Chr19:852731..852753 [GRCh38]
Chr19:852731..852753 [GRCh37]
Chr19:19p13.3
benign
NM_001972.4(ELANE):c.14G>A (p.Arg5His) single nucleotide variant Cyclical neutropenia [RCV000819106] Chr19:852342 [GRCh38]
Chr19:852342 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.262A>G (p.Asn88Asp) single nucleotide variant Cyclical neutropenia [RCV001044844] Chr19:853299 [GRCh38]
Chr19:853299 [GRCh37]
Chr19:19p13.3
uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.39C>G (p.Ala13=) single nucleotide variant Cyclical neutropenia [RCV000807003] Chr19:852367 [GRCh38]
Chr19:852367 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.256G>T (p.Ala86Ser) single nucleotide variant Cyclical neutropenia [RCV000798753] Chr19:853293 [GRCh38]
Chr19:853293 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.567C>G (p.Leu189=) single nucleotide variant Cyclical neutropenia [RCV000794265] Chr19:855764 [GRCh38]
Chr19:855764 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.727G>T (p.Asp243Tyr) single nucleotide variant Cyclical neutropenia [RCV000802462] Chr19:856087 [GRCh38]
Chr19:856087 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.292G>A (p.Val98Met) single nucleotide variant Cyclical neutropenia [RCV000820437] Chr19:853329 [GRCh38]
Chr19:853329 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.778C>A (p.Pro260Thr) single nucleotide variant Cyclical neutropenia [RCV001089275]|not provided [RCV000827714] Chr19:856138 [GRCh38]
Chr19:856138 [GRCh37]
Chr19:19p13.3
likely benign
NM_001972.4(ELANE):c.308G>C (p.Arg103Pro) single nucleotide variant Cyclical neutropenia [RCV001045463] Chr19:853345 [GRCh38]
Chr19:853345 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.418G>A (p.Ala140Thr) single nucleotide variant not provided [RCV000996709] Chr19:855615 [GRCh38]
Chr19:855615 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.618G>C (p.Leu206Phe) single nucleotide variant Cyclical neutropenia [RCV000990117] Chr19:855978 [GRCh38]
Chr19:855978 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter) single nucleotide variant Cyclical neutropenia [RCV000990119] Chr19:856029 [GRCh38]
Chr19:856029 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.354C>G (p.Ile118Met) single nucleotide variant Cyclical neutropenia [RCV001230838] Chr19:853391 [GRCh38]
Chr19:853391 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.163_165del (p.Cys55del) deletion Cyclical neutropenia [RCV001203035] Chr19:852970..852972 [GRCh38]
Chr19:852970..852972 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.487C>A (p.Arg163Ser) single nucleotide variant Cyclical neutropenia [RCV001231519] Chr19:855684 [GRCh38]
Chr19:855684 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg) single nucleotide variant Cyclical neutropenia [RCV001208966] Chr19:855967 [GRCh38]
Chr19:855967 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.652T>C (p.Phe218Leu) single nucleotide variant Cyclical neutropenia [RCV001209008] Chr19:856012 [GRCh38]
Chr19:856012 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.467G>C (p.Trp156Ser) single nucleotide variant Cyclical neutropenia [RCV001223390] Chr19:855664 [GRCh38]
Chr19:855664 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.658C>T (p.Arg220Trp) single nucleotide variant Cyclical neutropenia [RCV001235091] Chr19:856018 [GRCh38]
Chr19:856018 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.505C>A (p.Leu169Met) single nucleotide variant Cyclical neutropenia [RCV001214545] Chr19:855702 [GRCh38]
Chr19:855702 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.372C>A (p.Asn124Lys) single nucleotide variant Cyclical neutropenia [RCV001241525] Chr19:855569 [GRCh38]
Chr19:855569 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.269C>T (p.Ser90Leu) single nucleotide variant Cyclical neutropenia [RCV001207370] Chr19:853306 [GRCh38]
Chr19:853306 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.136T>C (p.Ser46Pro) single nucleotide variant Cyclical neutropenia [RCV001224716] Chr19:852944 [GRCh38]
Chr19:852944 [GRCh37]
Chr19:19p13.3
likely pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.511G>A (p.Glu171Lys) single nucleotide variant Cyclical neutropenia [RCV001228810] Chr19:855708 [GRCh38]
Chr19:855708 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) single nucleotide variant Cyclical neutropenia [RCV000862791] Chr19:855721 [GRCh38]
Chr19:855721 [GRCh37]
Chr19:19p13.3
likely benign|conflicting interpretations of pathogenicity
NM_001972.4(ELANE):c.752A>C (p.Asp251Ala) single nucleotide variant Cyclical neutropenia [RCV001219358] Chr19:856112 [GRCh38]
Chr19:856112 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.623G>T (p.Cys208Phe) single nucleotide variant Cyclical neutropenia [RCV001231994] Chr19:855983 [GRCh38]
Chr19:855983 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.662G>T (p.Gly221Val) single nucleotide variant Cyclical neutropenia [RCV001238331] Chr19:856022 [GRCh38]
Chr19:856022 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.23C>G (p.Ala8Gly) single nucleotide variant Cyclical neutropenia [RCV001244199] Chr19:852351 [GRCh38]
Chr19:852351 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.598-4A>G single nucleotide variant not provided [RCV000935062] Chr19:855954 [GRCh38]
Chr19:855954 [GRCh37]
Chr19:19p13.3
likely benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.565C>A (p.Leu189Ile) single nucleotide variant Cyclical neutropenia [RCV001041561] Chr19:855762 [GRCh38]
Chr19:855762 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.233G>C (p.Arg78Pro) single nucleotide variant Cyclical neutropenia [RCV001041739] Chr19:853270 [GRCh38]
Chr19:853270 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.10:g.(?_852288)_(856184_?)del deletion Cyclical neutropenia [RCV001032560] Chr19:852288..856184 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu) single nucleotide variant Cyclical neutropenia [RCV001205474]|not specified [RCV001002463] Chr19:856061 [GRCh38]
Chr19:856061 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.*2A>G single nucleotide variant Hereditary angioedema with normal C1Inh [RCV001027425] Chr19:856166 [GRCh38]
Chr19:856166 [GRCh37]
Chr19:19p13.3
not provided
NM_001972.4(ELANE):c.607G>T (p.Gly203Cys) single nucleotide variant Cyclical neutropenia [RCV001206586] Chr19:855967 [GRCh38]
Chr19:855967 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.367-10_367-9dup duplication Cyclical neutropenia [RCV001053844] Chr19:855552..855553 [GRCh38]
Chr19:855552..855553 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.118G>A (p.Ala40Thr) single nucleotide variant Cyclical neutropenia [RCV001232560] Chr19:852926 [GRCh38]
Chr19:852926 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_852319)_(1226656_?)del deletion Peutz-Jeghers syndrome [RCV001033903] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.597+5_597+8del deletion Cyclical neutropenia [RCV001205564] Chr19:855798..855801 [GRCh38]
Chr19:855798..855801 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.373G>A (p.Gly125Arg) single nucleotide variant not specified [RCV001000513] Chr19:855570 [GRCh38]
Chr19:855570 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_852326)_(1226646_?)del deletion Peutz-Jeghers syndrome [RCV001033230] Chr19:852326..1226646 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.343C>A (p.Leu115Ile) single nucleotide variant Cyclical neutropenia [RCV001232240] Chr19:853380 [GRCh38]
Chr19:853380 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.253G>A (p.Gly85Arg) single nucleotide variant Cyclical neutropenia [RCV001037726] Chr19:853290 [GRCh38]
Chr19:853290 [GRCh37]
Chr19:19p13.3
likely pathogenic|uncertain significance
NM_001972.4(ELANE):c.367C>G (p.Leu123Val) single nucleotide variant Neutropenia, severe congenital 1, autosomal dominant [RCV001255175] Chr19:855564 [GRCh38]
Chr19:855564 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.322G>C (p.Gly108Arg) single nucleotide variant Neutropenia, severe congenital 1, autosomal dominant [RCV001260994] Chr19:853359 [GRCh38]
Chr19:853359 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter) single nucleotide variant not provided [RCV001268083] Chr19:856082 [GRCh38]
Chr19:856082 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.90T>G (p.Ile30Met) single nucleotide variant not provided [RCV001269857] Chr19:852898 [GRCh38]
Chr19:852898 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.194T>A (p.Val65Asp) single nucleotide variant not provided [RCV001269858] Chr19:853002 [GRCh38]
Chr19:853002 [GRCh37]
Chr19:19p13.3
likely pathogenic
NM_001972.4(ELANE):c.25T>C (p.Cys9Arg) single nucleotide variant Cyclical neutropenia [RCV001339253] Chr19:852353 [GRCh38]
Chr19:852353 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.573G>T (p.Arg191Ser) single nucleotide variant Cyclical neutropenia [RCV001307115] Chr19:855770 [GRCh38]
Chr19:855770 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg) single nucleotide variant Cyclical neutropenia [RCV001339953] Chr19:853342 [GRCh38]
Chr19:853342 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.744C>G (p.Arg248=) single nucleotide variant Cyclical neutropenia [RCV001308470] Chr19:856104 [GRCh38]
Chr19:856104 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.644T>A (p.Ile215Asn) single nucleotide variant Cyclical neutropenia [RCV001305702] Chr19:856004 [GRCh38]
Chr19:856004 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.403G>A (p.Val135Met) single nucleotide variant Cyclical neutropenia [RCV001313527] Chr19:855600 [GRCh38]
Chr19:855600 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_852326)_(856164_?)dup duplication Cyclical neutropenia [RCV001322789] Chr19:852326..856164 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.233G>A (p.Arg78His) single nucleotide variant Cyclical neutropenia [RCV001322913] Chr19:853270 [GRCh38]
Chr19:853270 [GRCh37]
Chr19:19p13.3
uncertain significance
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.602del (p.Asp201fs) deletion Cyclical neutropenia [RCV001316907] Chr19:855962 [GRCh38]
Chr19:855962 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.107C>G (p.Ala36Gly) single nucleotide variant Cyclical neutropenia [RCV001345256] Chr19:852915 [GRCh38]
Chr19:852915 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.66G>A (p.Gly22=) single nucleotide variant Cyclical neutropenia [RCV001347783] Chr19:852394 [GRCh38]
Chr19:852394 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.222_223insAC (p.Val75fs) insertion Cyclical neutropenia [RCV001344358] Chr19:853030..853031 [GRCh38]
Chr19:853030..853031 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.286C>T (p.Arg96Trp) single nucleotide variant Cyclical neutropenia [RCV001309633] Chr19:853323 [GRCh38]
Chr19:853323 [GRCh37]
Chr19:19p13.3
uncertain significance
NM_001972.4(ELANE):c.164G>C (p.Cys55Ser) single nucleotide variant not provided [RCV001269541] Chr19:852972 [GRCh38]
Chr19:852972 [GRCh37]
Chr19:19p13.3
pathogenic
NM_001972.4(ELANE):c.598-2A>C single nucleotide variant Cyclical neutropenia [RCV001304512] Chr19:855956 [GRCh38]
Chr19:855956 [GRCh37]
Chr19:19p13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3309 AgrOrtholog
COSMIC ELANE COSMIC
Ensembl Genes ENSG00000197561 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000277571 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000263621 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000466090 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000480128 UniProtKB/Swiss-Prot
  ENSP00000488075 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263621 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000590230 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000615489 UniProtKB/Swiss-Prot
  ENST00000632488 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000197561 GTEx
  ENSG00000277571 GTEx
HGNC ID HGNC:3309 ENTREZGENE
Human Proteome Map ELANE Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot
  Peptidase_S1A UniProtKB/Swiss-Prot
  Trypsin_dom UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
KEGG Report hsa:1991 UniProtKB/Swiss-Prot
NCBI Gene 1991 ENTREZGENE
OMIM 130130 OMIM
  162800 OMIM
  202700 OMIM
Pfam Trypsin UniProtKB/Swiss-Prot
PharmGKB ELA2 RGD, PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
SMART Tryp_SPc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot
UniProt ELNE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary P09649 UniProtKB/Swiss-Prot
  Q6B0D9 UniProtKB/Swiss-Prot
  Q6LDP5 UniProtKB/Swiss-Prot