SERPINC1 (serpin family C member 1) - Rat Genome Database

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Gene: SERPINC1 (serpin family C member 1) Homo sapiens
Analyze
Symbol: SERPINC1
Name: serpin family C member 1
RGD ID: 1316583
HGNC Page HGNC
Description: Enables identical protein binding activity and protease binding activity. Predicted to be involved in negative regulation of endopeptidase activity. Located in extracellular space. Part of collagen-containing extracellular matrix. Implicated in antithrombin III deficiency; disseminated intravascular coagulation; intermediate coronary syndrome; thrombosis; and toxic shock syndrome. Biomarker of acute kidney failure; nephrotic syndrome; osteonecrosis; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: antithrombin III; antithrombin III isoform; antithrombin-III; AT3; AT3D; ATIII; ATIII-R2; ATIII-T1; ATIII-T2; MGC22579; serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1; serine-cysteine proteinase inhibitor clade C member 1; serpin C1; serpin peptidase inhibitor clade C member 1; serpin peptidase inhibitor, clade C (antithrombin), member 1; THPH7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1173,903,800 - 173,917,327 (-)EnsemblGRCh38hg38GRCh38
GRCh381173,903,800 - 173,917,327 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371173,872,938 - 173,886,465 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361172,139,565 - 172,153,096 (-)NCBINCBI36hg18NCBI36
Build 341170,604,599 - 170,618,130NCBI
Celera1146,982,409 - 146,995,977 (-)NCBI
Cytogenetic Map1q25.1NCBI
HuRef1145,098,064 - 145,111,634 (-)NCBIHuRef
CHM1_11175,295,382 - 175,308,956 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
6-aminohexanoate  (EXP)
6-aminohexanoic acid  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
amidotrizoic acid  (EXP)
antimony(0)  (EXP)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
busulfan  (EXP)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
chlorotrianisene  (EXP)
chromium atom  (EXP)
chromium trinitrate  (ISO)
clobazam  (EXP)
clofibrate  (EXP,ISO)
clothianidin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cortisol  (EXP)
cyclosporin A  (EXP)
dienogest  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
furan  (ISO)
gestodene  (EXP)
heparin  (EXP,ISO)
hydrogen peroxide  (EXP)
ioxaglic acid  (EXP)
levonorgestrel  (EXP)
Licochalcone B  (EXP)
medroxyprogesterone acetate  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
metformin  (EXP)
methapyrilene  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
norethisterone  (EXP)
norgestimate  (EXP)
O-methyleugenol  (EXP)
oxybenzone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenformin  (EXP)
phenobarbital  (ISO)
phenytoin  (EXP)
potassium chromate  (ISO)
potassium dichromate  (EXP,ISO)
prednisone  (EXP)
quercetin  (EXP)
resveratrol  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sulfasalazine  (ISO)
tamoxifen  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toremifene  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
warfarin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
1. Akman S, etal., Pediatr Nephrol. 2008 Aug;23(8):1327-30. doi: 10.1007/s00467-008-0829-7. Epub 2008 May 6.
2. al-Mugeiren MM, etal., Haemostasis. 1996 Nov-Dec;26(6):304-10.
3. Amagasa H, etal., J Atheroscler Thromb. 2005;12(4):191-8.
4. Caglikulekci M, etal., Ann Chir. 2004 Jun;129(5):273-7.
5. Camara-Lemarroy CR, etal., Arch Med Res. 2014 Apr;45(3):210-6. doi: 10.1016/j.arcmed.2014.02.001. Epub 2014 Apr 13.
6. Chan KC, etal., J Food Sci. 2012 Feb;77(2):H76-80. doi: 10.1111/j.1750-3841.2011.02558.x. Epub 2012 Feb 6.
7. Cicala C, etal., Eur J Pharmacol. 2007 Dec 22;577(1-3):156-61. Epub 2007 Aug 14.
8. Cruz C, etal., Nephron. 1994;68(4):489-96.
9. Czabanka M, etal., J Surg Res. 2006 Dec;136(2):219-26. Epub 2006 Feb 2.
10. Ding Q, etal., Thromb Res. 2013 Sep;132(3):367-73. doi: 10.1016/j.thromres.2013.07.013. Epub 2013 Aug 8.
11. Duru S, etal., Acta Anaesthesiol Scand. 2005 Sep;49(8):1142-8.
12. ElGendy AA and Abbas AM, J Physiol Biochem. 2014 Jun;70(2):535-46. doi: 10.1007/s13105-014-0333-4. Epub 2014 Mar 27.
13. Emerson TE Jr, etal., Am J Med. 1989 Sep 11;87(3B):27S-33S.
14. Erman T, etal., Neurosurgery. 2005 Apr;56(4):828-35.
15. Fujiwara K, etal., J Gastroenterol Hepatol. 1995;10 Suppl 1:S88-91.
16. Garcia-Avello A, etal., Thromb Res. 1998 Jan 15;89(2):59-64.
17. GOA_HUMAN data from the GO Consortium
18. Gomibuchi H, etal., Exp Anim. 2007 Jan;56(1):1-10.
19. Guzman-De La Garza FJ, etal., Surg Today. 2010 Nov;40(11):1055-62. doi: 10.1007/s00595-009-4177-4. Epub 2010 Nov 3.
20. Hagiwara S, etal., Inflamm Res. 2010 Jul;59(7):511-8. doi: 10.1007/s00011-009-0155-y. Epub 2010 Jan 3.
21. Hagiwara S, etal., Intensive Care Med. 2008 Feb;34(2):361-7. Epub 2007 Oct 17.
22. Hagiwara S, etal., Pancreas. 2009 Oct;38(7):746-51. doi: 10.1097/MPA.0b013e3181aba9fa.
23. Harada N, etal., Thromb Haemost. 2006 Jun;95(6):1011-8.
24. Hassan S, etal., Am J Physiol Heart Circ Physiol. 2007 Jun;292(6):H2959-65. Epub 2007 Feb 9.
25. Huang Y, etal., Eur J Obstet Gynecol Reprod Biol. 2012 Nov;165(1):96-103. doi: 10.1016/j.ejogrb.2012.06.031. Epub 2012 Jul 18.
26. Iba T, etal., Intensive Care Med. 2005 Aug;31(8):1101-8. Epub 2005 Jul 2.
27. Knobl P, etal., Thromb Haemost. 1994 Jun;71(6):692-7.
28. Kung CW, etal., Thromb Res. 2011 Jun;127(6):582-8. Epub 2011 Mar 10.
29. Kurata M, etal., World J Gastroenterol. 2006 Jan 7;12(1):60-5.
30. Lidon RM, etal., Thromb Res. 1993 Oct 1;72(1):23-32.
31. Lin CM, etal., Zhonghua Xue Ye Xue Za Zhi. 2012 Mar;33(3):215-9.
32. Maksan SM, etal., World J Gastroenterol. 2005 Aug 28;11(32):4997-5001.
33. Miyazaki M, etal., World J Gastroenterol. 2012 Apr 28;18(16):1884-91. doi: 10.3748/wjg.v18.i16.1884.
34. Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83.
35. OMIM Disease Annotation Pipeline
36. Picard V, etal., Blood. 2003 Aug 1;102(3):919-25. Epub 2003 Feb 20.
37. Pipeline to import KEGG annotations from KEGG into RGD
38. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
39. Pipeline to import SMPDB annotations from SMPDB into RGD
40. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
41. RGD automated import pipeline for gene-chemical interactions
42. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
43. Sacks SH, etal., J Med Genet. 1988 Jan;25(1):20-4.
44. Safdar H, etal., Blood. 2013 May 23;121(21):4413-6. doi: 10.1182/blood-2012-11-465674. Epub 2013 Apr 2.
45. Sun W, etal., Int Orthop. 2006 Jun;30(3):143-6. doi: 10.1007/s00264-005-0067-6. Epub 2006 Mar 18.
46. Sun W, etal., Zhonghua Yi Xue Za Zhi. 2006 Feb 21;86(7):442-5.
47. Tsai YC, etal., Eur J Pharmacol. 2010 Sep 1;641(1):67-73. Epub 2010 May 25.
48. Wang F, etal., Kidney Int. 2015 Oct;88(4):796-803. doi: 10.1038/ki.2015.176. Epub 2015 Jun 24.
49. Zee RY, etal., J Hypertens. 1991 Sep;9(9):825-30.
Additional References at PubMed
PMID:1315572   PMID:1325679   PMID:1421387   PMID:1483709   PMID:1547341   PMID:1551681   PMID:1555650   PMID:1602151   PMID:1695900   PMID:1808766   PMID:1868237   PMID:1873223  
PMID:1873224   PMID:1906811   PMID:1932746   PMID:1977621   PMID:1998601   PMID:2012760   PMID:2013320   PMID:2093312   PMID:2126464   PMID:2229057   PMID:2365065   PMID:2544589  
PMID:2602168   PMID:2615648   PMID:2781509   PMID:2794060   PMID:2917133   PMID:2991253   PMID:2998880   PMID:3055413   PMID:3080419   PMID:3162733   PMID:3169232   PMID:3179438  
PMID:3191114   PMID:3360140   PMID:3472589   PMID:3605071   PMID:3643793   PMID:3800906   PMID:3805013   PMID:3979120   PMID:6096369   PMID:6298709   PMID:6305982   PMID:6572945  
PMID:6582486   PMID:6636045   PMID:6672771   PMID:6693405   PMID:6833231   PMID:7238875   PMID:7599134   PMID:7656006   PMID:7749926   PMID:7832187   PMID:7878627   PMID:7959685  
PMID:7981186   PMID:7989582   PMID:7994035   PMID:8087553   PMID:8236149   PMID:8274732   PMID:8443391   PMID:8476848   PMID:8486379   PMID:8664906   PMID:8889549   PMID:9031473  
PMID:9067613   PMID:9157604   PMID:9405673   PMID:9428387   PMID:9759613   PMID:9761669   PMID:9845533   PMID:10361121   PMID:10809774   PMID:10974350   PMID:10997988   PMID:11686316  
PMID:11686319   PMID:11713457   PMID:11754060   PMID:11794707   PMID:11854268   PMID:11861278   PMID:11927130   PMID:12138164   PMID:12193972   PMID:12353073   PMID:12369826   PMID:12466122  
PMID:12477932   PMID:12556442   PMID:12695507   PMID:12878203   PMID:12894857   PMID:12907439   PMID:14347873   PMID:14532267   PMID:14652650   PMID:14718574   PMID:14760718   PMID:15084671  
PMID:15140129   PMID:15164384   PMID:15338392   PMID:15630490   PMID:15630491   PMID:15733967   PMID:15853774   PMID:15978566   PMID:16263699   PMID:16335952   PMID:16502470   PMID:16542481  
PMID:16705712   PMID:16796563   PMID:16908819   PMID:16940049   PMID:16973611   PMID:17244682   PMID:17413759   PMID:17474147   PMID:17492649   PMID:17597998   PMID:17849067   PMID:18056677  
PMID:18208532   PMID:18550704   PMID:18761717   PMID:18923394   PMID:18954896   PMID:19004141   PMID:19229049   PMID:19277409   PMID:19423540   PMID:19631608   PMID:19715676   PMID:19760264  
PMID:19762145   PMID:19843180   PMID:19861246   PMID:19913121   PMID:19924026   PMID:20024502   PMID:20088933   PMID:20224507   PMID:20406964   PMID:20438785   PMID:20452482   PMID:20628086  
PMID:20673868   PMID:20683322   PMID:21044781   PMID:21240680   PMID:21264449   PMID:21316837   PMID:21569219   PMID:21569220   PMID:21655678   PMID:21795523   PMID:21873635   PMID:21885952  
PMID:22116592   PMID:22234719   PMID:22353523   PMID:22398878   PMID:22424603   PMID:22481271   PMID:22498748   PMID:22516433   PMID:22582013   PMID:22627591   PMID:22918506   PMID:22958499  
PMID:22997155   PMID:23117546   PMID:23329010   PMID:23376485   PMID:23416531   PMID:23429250   PMID:23533145   PMID:23809926   PMID:23840401   PMID:23844096   PMID:24068708   PMID:24072242  
PMID:24172014   PMID:24196373   PMID:24226152   PMID:24583439   PMID:24966143   PMID:24981860   PMID:25037231   PMID:25087890   PMID:25298121   PMID:25307422   PMID:25312341   PMID:25361738  
PMID:25483839   PMID:25522812   PMID:25771983   PMID:25811371   PMID:25837307   PMID:25851619   PMID:26177694   PMID:26186194   PMID:26344197   PMID:26354831   PMID:26581031   PMID:26618866  
PMID:26747427   PMID:26748602   PMID:26916305   PMID:27003919   PMID:27098529   PMID:27161325   PMID:27214821   PMID:27222580   PMID:27279637   PMID:27492143   PMID:27708219   PMID:27863268  
PMID:28174134   PMID:28229161   PMID:28274560   PMID:28300866   PMID:28317092   PMID:28361296   PMID:28424376   PMID:28514442   PMID:28607330   PMID:28675934   PMID:28783511   PMID:28861852  
PMID:29112333   PMID:29215785   PMID:29564838   PMID:30005274   PMID:30458337   PMID:30896875   PMID:30931675   PMID:31030036   PMID:31142255   PMID:31157679   PMID:31180492   PMID:31273033  
PMID:31378371   PMID:31441586   PMID:31480053   PMID:32151802   PMID:32252658   PMID:32450575   PMID:32686144   PMID:32745482   PMID:32780723   PMID:32829961   PMID:33179232  


Genomics

Comparative Map Data
SERPINC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1173,903,800 - 173,917,327 (-)EnsemblGRCh38hg38GRCh38
GRCh381173,903,800 - 173,917,327 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371173,872,938 - 173,886,465 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361172,139,565 - 172,153,096 (-)NCBINCBI36hg18NCBI36
Build 341170,604,599 - 170,618,130NCBI
Celera1146,982,409 - 146,995,977 (-)NCBI
Cytogenetic Map1q25.1NCBI
HuRef1145,098,064 - 145,111,634 (-)NCBIHuRef
CHM1_11175,295,382 - 175,308,956 (-)NCBICHM1_1
Serpinc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391160,806,153 - 160,830,113 (+)NCBIGRCm39mm39
GRCm39 Ensembl1160,806,155 - 160,833,433 (+)Ensembl
GRCm381160,978,583 - 161,002,543 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1160,978,585 - 161,005,863 (+)EnsemblGRCm38mm10GRCm38
MGSCv371162,908,737 - 162,933,146 (+)NCBIGRCm37mm9NCBIm37
MGSCv361162,824,166 - 162,839,687 (+)NCBImm8
Celera1163,418,142 - 163,442,757 (+)NCBICelera
Cytogenetic Map1H2.1NCBI
cM Map169.75NCBI
Serpinc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21373,257,208 - 73,271,476 (+)NCBI
Rnor_6.0 Ensembl1378,805,347 - 78,833,192 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01378,806,107 - 78,820,375 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01383,700,761 - 83,715,029 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41376,548,456 - 76,562,724 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11376,562,643 - 76,576,911 (+)NCBI
Celera1373,045,672 - 73,059,940 (+)NCBICelera
Cytogenetic Map13q22NCBI
Serpinc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540614,024,313 - 14,035,948 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540614,024,183 - 14,036,206 (-)NCBIChiLan1.0ChiLan1.0
SERPINC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11153,126,031 - 153,139,369 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1153,126,031 - 153,139,369 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01149,421,737 - 149,435,301 (-)NCBIMhudiblu_PPA_v0panPan3
SERPINC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1725,322,668 - 25,333,022 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl725,316,129 - 25,332,987 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha724,855,807 - 24,866,147 (+)NCBI
ROS_Cfam_1.0725,073,311 - 25,083,857 (+)NCBI
UMICH_Zoey_3.1724,993,149 - 25,003,688 (+)NCBI
UNSW_CanFamBas_1.0725,074,836 - 25,085,380 (+)NCBI
UU_Cfam_GSD_1.0725,220,039 - 25,230,581 (+)NCBI
Serpinc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934496,134,261 - 96,146,884 (+)NCBI
SpeTri2.0NW_00493648113,981,014 - 13,993,750 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SERPINC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9116,181,980 - 116,193,201 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19116,181,988 - 116,193,100 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29127,817,120 - 127,828,237 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SERPINC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12555,271,823 - 55,289,855 (+)NCBI
Vero_WHO_p1.0NW_02366605556,831,874 - 56,851,329 (+)NCBI
Serpinc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247717,955,778 - 7,966,637 (+)NCBI

Position Markers
SHGC-75924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,873,027 - 173,873,168UniSTSGRCh37
Build 361172,139,650 - 172,139,791RGDNCBI36
Celera1146,982,494 - 146,982,635RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,098,149 - 145,098,290UniSTS
TNG Radiation Hybrid Map180613.0UniSTS
GeneMap99-GB4 RH Map1625.19UniSTS
G44373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,876,530 - 173,876,654UniSTSGRCh37
Build 361172,143,153 - 172,143,277RGDNCBI36
Celera1146,985,997 - 146,986,121RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,101,652 - 145,101,776UniSTS
GDB:176373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,872,974 - 173,873,209UniSTSGRCh37
Build 361172,139,597 - 172,139,832RGDNCBI36
Celera1146,982,441 - 146,982,676RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,098,096 - 145,098,331UniSTS
GDB:177376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,883,606 - 173,884,097UniSTSGRCh37
Build 361172,150,229 - 172,150,720RGDNCBI36
Celera1146,993,067 - 146,993,558RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,108,722 - 145,109,213UniSTS
GDB:177819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,876,491 - 173,876,721UniSTSGRCh37
Build 361172,143,114 - 172,143,344RGDNCBI36
Celera1146,985,958 - 146,986,188RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,101,613 - 145,101,843UniSTS
GDB:197001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,876,936 - 173,877,236UniSTSGRCh37
Build 361172,143,559 - 172,143,859RGDNCBI36
Celera1146,986,403 - 146,986,697RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,102,058 - 145,102,352UniSTS
GDB:379028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,876,566 - 173,877,219UniSTSGRCh37
Build 361172,143,189 - 172,143,842RGDNCBI36
Celera1146,986,033 - 146,986,680RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,101,688 - 145,102,335UniSTS
PMC310502P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,886,670 - 173,886,811UniSTSGRCh37
Build 361172,153,293 - 172,153,434RGDNCBI36
Celera1146,996,131 - 146,996,279RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,111,788 - 145,111,929UniSTS
SHGC-75923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,886,393 - 173,886,587UniSTSGRCh37
Build 361172,153,016 - 172,153,210RGDNCBI36
Celera1146,995,854 - 146,996,048RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,111,511 - 145,111,705UniSTS
TNG Radiation Hybrid Map180617.0UniSTS
GeneMap99-GB4 RH Map1625.19UniSTS
SHGC-75926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,886,134 - 173,886,306UniSTSGRCh37
Build 361172,152,757 - 172,152,929RGDNCBI36
Celera1146,995,595 - 146,995,767RGD
Cytogenetic Map1q25.1UniSTS
HuRef1145,111,252 - 145,111,424UniSTS
TNG Radiation Hybrid Map180617.0UniSTS
GeneMap99-GB4 RH Map1625.19UniSTS
NCBI RH Map11509.3UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
SERPINC1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371173,879,965 - 173,881,024UniSTSGRCh37
Celera1146,989,426 - 146,990,485UniSTS
HuRef1145,105,081 - 145,106,140UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:466
Count of miRNA genes:387
Interacting mature miRNAs:421
Transcripts:ENST00000367698, ENST00000487183, ENST00000494024
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 276 276 276
Medium 1 21 156 153 18 153 4 1 1 6 1 4 4
Low 456 684 294 41 574 18 627 366 533 151 540 441 23 180 462 2
Below cutoff 1889 2164 967 140 1033 12 3473 1736 3021 231 825 1078 138 985 2210 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB083701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF130100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF386078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ975467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D29832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ124932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H62671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H65301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H71210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH713706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP780080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX151146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY927056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC127223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC127224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC127225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF374783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH055804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH055805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R84868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S43612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S44548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S44549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S49759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U11270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000367698   ⟹   ENSP00000356671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1173,903,809 - 173,917,378 (-)Ensembl
RefSeq Acc Id: ENST00000487183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1173,909,730 - 173,914,665 (-)Ensembl
RefSeq Acc Id: ENST00000494024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1173,911,980 - 173,917,316 (-)Ensembl
RefSeq Acc Id: ENST00000617423   ⟹   ENSP00000478688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1173,903,804 - 173,917,378 (-)Ensembl
RefSeq Acc Id: NM_000488   ⟹   NP_000479
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,903,800 - 173,917,327 (-)NCBI
GRCh371173,872,938 - 173,886,516 (-)NCBI
Build 361172,139,565 - 172,153,096 (-)NCBI Archive
HuRef1145,098,064 - 145,111,634 (-)ENTREZGENE
CHM1_11175,295,382 - 175,308,956 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365052   ⟹   NP_001351981
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,903,800 - 173,917,327 (-)NCBI
RefSeq Acc Id: NM_001386302   ⟹   NP_001373231
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,903,800 - 173,917,327 (-)NCBI
RefSeq Acc Id: NM_001386303   ⟹   NP_001373232
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,903,800 - 173,917,327 (-)NCBI
RefSeq Acc Id: NM_001386304   ⟹   NP_001373233
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,903,800 - 173,917,327 (-)NCBI
RefSeq Acc Id: NM_001386305   ⟹   NP_001373234
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,903,800 - 173,917,327 (-)NCBI
RefSeq Acc Id: NM_001386306   ⟹   NP_001373235
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381173,903,800 - 173,917,327 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000479 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351981 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373231 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373232 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373233 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373234 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373235 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA19930 (Get FASTA)   NCBI Sequence Viewer  
  AAA51793 (Get FASTA)   NCBI Sequence Viewer  
  AAA51794 (Get FASTA)   NCBI Sequence Viewer  
  AAA51795 (Get FASTA)   NCBI Sequence Viewer  
  AAA51796 (Get FASTA)   NCBI Sequence Viewer  
  AAB19468 (Get FASTA)   NCBI Sequence Viewer  
  AAB23132 (Get FASTA)   NCBI Sequence Viewer  
  AAB40025 (Get FASTA)   NCBI Sequence Viewer  
  AAG35525 (Get FASTA)   NCBI Sequence Viewer  
  AAH22309 (Get FASTA)   NCBI Sequence Viewer  
  AAK60337 (Get FASTA)   NCBI Sequence Viewer  
  AAZ38825 (Get FASTA)   NCBI Sequence Viewer  
  AKR04958 (Get FASTA)   NCBI Sequence Viewer  
  ANC47990 (Get FASTA)   NCBI Sequence Viewer  
  ATY37561 (Get FASTA)   NCBI Sequence Viewer  
  AWK91218 (Get FASTA)   NCBI Sequence Viewer  
  AZI76171 (Get FASTA)   NCBI Sequence Viewer  
  AZI76172 (Get FASTA)   NCBI Sequence Viewer  
  BAA06212 (Get FASTA)   NCBI Sequence Viewer  
  BAC21173 (Get FASTA)   NCBI Sequence Viewer  
  BAC21174 (Get FASTA)   NCBI Sequence Viewer  
  BAC21175 (Get FASTA)   NCBI Sequence Viewer  
  BAC21176 (Get FASTA)   NCBI Sequence Viewer  
  BAG35537 (Get FASTA)   NCBI Sequence Viewer  
  BAU71156 (Get FASTA)   NCBI Sequence Viewer  
  BAU71157 (Get FASTA)   NCBI Sequence Viewer  
  CAA25059 (Get FASTA)   NCBI Sequence Viewer  
  CAA25060 (Get FASTA)   NCBI Sequence Viewer  
  CAA26951 (Get FASTA)   NCBI Sequence Viewer  
  CAA26952 (Get FASTA)   NCBI Sequence Viewer  
  CAA48690 (Get FASTA)   NCBI Sequence Viewer  
  CAI45858 (Get FASTA)   NCBI Sequence Viewer  
  CBX54631 (Get FASTA)   NCBI Sequence Viewer  
  EAW90969 (Get FASTA)   NCBI Sequence Viewer  
  EAW90970 (Get FASTA)   NCBI Sequence Viewer  
  EAW90971 (Get FASTA)   NCBI Sequence Viewer  
  P01008 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000479   ⟸   NM_000488
- Peptide Label: isoform 1 precursor
- UniProtKB: P01008 (UniProtKB/Swiss-Prot),   A0A024R944 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001351981   ⟸   NM_001365052
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000478688   ⟸   ENST00000617423
RefSeq Acc Id: ENSP00000356671   ⟸   ENST00000367698
RefSeq Acc Id: NP_001373232   ⟸   NM_001386303
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001373235   ⟸   NM_001386306
- Peptide Label: isoform 7 precursor
RefSeq Acc Id: NP_001373233   ⟸   NM_001386304
- Peptide Label: isoform 5 precursor
RefSeq Acc Id: NP_001373234   ⟸   NM_001386305
- Peptide Label: isoform 6 precursor
RefSeq Acc Id: NP_001373231   ⟸   NM_001386302
- Peptide Label: isoform 3 precursor
Protein Domains
SERPIN

Promoters
RGD ID:6850322
Promoter ID:EP30079
Type:single initiation site
Name:HS_SERPINC1
Description:Antithrombin III, AT3 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:liver
Experiment Methods:Sequencing of a full-length cDNA; Primer extension; Primer extension; transfected or transformed cells
Position:
Human AssemblyChrPosition (strand)Source
Build 361172,153,090 - 172,153,150EPD
RGD ID:6858166
Promoter ID:EPDNEW_H2248
Type:initiation region
Name:SERPINC1_1
Description:serpin family C member 1
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
GRCh381173,917,327 - 173,917,387EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
AT-III Roma variation Antithrombin III deficiency [RCV000019621] Chr1:1q23-q25 pathogenic
AT-III Trento variation Antithrombin III deficiency [RCV000019622] Chr1:1q23-q25 pathogenic
AT-III Fontainebleu variation Antithrombin III deficiency [RCV000019624] Chr1:1q23-q25 pathogenic
AT-III Barcelona variation Antithrombin III deficiency [RCV000019629] Chr1:1q23-q25 pathogenic
NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser) single nucleotide variant Abnormal bleeding [RCV001270536]|Antithrombin III deficiency [RCV000019639]|Antithrombin deficiency [RCV000148884]|not provided [RCV000857698]|not specified [RCV000249153] Chr1:173904038 [GRCh38]
Chr1:173873176 [GRCh37]
Chr1:1q25.1
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
SERPINC1, 1-BP DEL, A deletion Antithrombin III deficiency [RCV000019640] Chr1:1q23-q25 pathogenic
SERPINC1, 2-BP DEL, AG deletion Antithrombin III deficiency [RCV000019641] Chr1:1q23-q25 pathogenic
NM_000488.3(SERPINC1):c.779dup (p.Phe261fs) duplication Antithrombin III deficiency [RCV000019642] Chr1:173909925..173909926 [GRCh38]
Chr1:173879063..173879064 [GRCh37]
Chr1:1q25.1
pathogenic
SERPINC1, 1-BP INS, T, CODON 48 insertion Antithrombin III deficiency [RCV000019651] Chr1:1q23-q25 pathogenic
SERPINC1, 1-BP INS, A, CODON 208 insertion Antithrombin III deficiency [RCV000019652] Chr1:1q23-q25 pathogenic
SERPINC1, 1-BP DEL, A, CODON 370 deletion Antithrombin III deficiency [RCV000019653] Chr1:1q23-q25 pathogenic
SERPINC1, 3-BP DEL deletion Antithrombin III deficiency [RCV000019661] Chr1:1q23-q25 pathogenic
SERPINC1, 9-BP DEL, NT13395 deletion Antithrombin III deficiency [RCV000019662] Chr1:1q23-q25 pathogenic
NM_000488.3(SERPINC1):c.1306G>A (p.Ala436Thr) single nucleotide variant Antithrombin III deficiency [RCV000019619] Chr1:173903978 [GRCh38]
Chr1:173873116 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.235C>T (p.Arg79Cys) single nucleotide variant Antithrombin III deficiency [RCV000019620] Chr1:173914726 [GRCh38]
Chr1:173883864 [GRCh37]
Chr1:1q25.1
pathogenic|likely pathogenic
NM_000488.3(SERPINC1):c.1246G>C (p.Ala416Pro) single nucleotide variant Antithrombin III deficiency [RCV000019623] Chr1:173904038 [GRCh38]
Chr1:173873176 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1274G>C (p.Arg425Pro) single nucleotide variant Antithrombin III deficiency [RCV000019625] Chr1:173904010 [GRCh38]
Chr1:173873148 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1277C>T (p.Ser426Leu) single nucleotide variant Antithrombin III deficiency [RCV000019626] Chr1:173904007 [GRCh38]
Chr1:173873145 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.218C>T (p.Pro73Leu) single nucleotide variant Antithrombin III deficiency [RCV000019627]|Antithrombin deficiency [RCV000148882]|not provided [RCV001090508] Chr1:173914743 [GRCh38]
Chr1:173883881 [GRCh37]
Chr1:1q25.1
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000488.3(SERPINC1):c.89T>A (p.Val30Glu) single nucleotide variant Antithrombin III deficiency [RCV000019628]|Deep venous thrombosis [RCV000852240]|Thromboembolism [RCV000852239]|not provided [RCV000857628] Chr1:173914872 [GRCh38]
Chr1:173884010 [GRCh37]
Chr1:1q25.1
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000488.3(SERPINC1):c.236G>A (p.Arg79His) single nucleotide variant Antithrombin III deficiency [RCV000019630]|Antithrombin deficiency [RCV000148881] Chr1:173914725 [GRCh38]
Chr1:173883863 [GRCh37]
Chr1:1q25.1
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000488.3(SERPINC1):c.235C>A (p.Arg79Ser) single nucleotide variant Antithrombin III deficiency [RCV000019631] Chr1:173914726 [GRCh38]
Chr1:173883864 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1273C>T (p.Arg425Cys) single nucleotide variant Antithrombin III deficiency [RCV000019632] Chr1:173904011 [GRCh38]
Chr1:173873149 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1316C>T (p.Pro439Leu) single nucleotide variant Antithrombin III deficiency [RCV000019633] Chr1:173903968 [GRCh38]
Chr1:173873106 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1274G>A (p.Arg425His) single nucleotide variant Antithrombin III deficiency [RCV000019635] Chr1:173904010 [GRCh38]
Chr1:173873148 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1240G>A (p.Ala414Thr) single nucleotide variant Antithrombin III deficiency [RCV000019636] Chr1:173904044 [GRCh38]
Chr1:173873182 [GRCh37]
Chr1:1q25.1
pathogenic
NM_001365052.1(SERPINC1):c.-29T>A single nucleotide variant Antithrombin III deficiency [RCV000019637] Chr1:173914845 [GRCh38]
Chr1:173883983 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.166C>T (p.Arg56Cys) single nucleotide variant Antithrombin III deficiency [RCV000019638]|not provided [RCV000420779] Chr1:173914795 [GRCh38]
Chr1:173883933 [GRCh37]
Chr1:1q25.1
pathogenic|likely pathogenic
NM_000488.4(SERPINC1):c.967_968del (p.Ser323fs) microsatellite Antithrombin III deficiency [RCV000019643] Chr1:173909737..173909738 [GRCh38]
Chr1:173878875..173878876 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1021_1024del (p.Asp341fs) deletion Antithrombin III deficiency [RCV000019644] Chr1:173909681..173909684 [GRCh38]
Chr1:173878819..173878822 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.481C>T (p.Arg161Ter) single nucleotide variant Antithrombin III deficiency [RCV000019645] Chr1:173911942 [GRCh38]
Chr1:173881080 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.482G>A (p.Arg161Gln) single nucleotide variant Antithrombin III deficiency [RCV000019646]|Antithrombin deficiency [RCV000148886] Chr1:173911941 [GRCh38]
Chr1:173881079 [GRCh37]
Chr1:1q25.1
pathogenic|uncertain significance
NM_000488.3(SERPINC1):c.1382C>T (p.Pro461Leu) single nucleotide variant Antithrombin III deficiency [RCV000019647] Chr1:173903902 [GRCh38]
Chr1:173873040 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1141T>C (p.Ser381Pro) single nucleotide variant Antithrombin III deficiency [RCV000019648] Chr1:173909564 [GRCh38]
Chr1:173878702 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1271G>A (p.Gly424Asp) single nucleotide variant Antithrombin III deficiency [RCV000019649] Chr1:173904013 [GRCh38]
Chr1:173873151 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.391C>T (p.Leu131Phe) single nucleotide variant Antithrombin III deficiency [RCV000019650]|Deep venous thrombosis [RCV000851769] Chr1:173914570 [GRCh38]
Chr1:173883708 [GRCh37]
Chr1:1q25.1
pathogenic|likely pathogenic
NM_000488.3(SERPINC1):c.1256C>T (p.Ala419Val) single nucleotide variant Antithrombin III deficiency [RCV000019654]|Antithrombin deficiency [RCV000148883] Chr1:173904028 [GRCh38]
Chr1:173873166 [GRCh37]
Chr1:1q25.1
pathogenic|uncertain significance
NM_000488.3(SERPINC1):c.442T>C (p.Ser148Pro) single nucleotide variant Antithrombin III deficiency [RCV000019655] Chr1:173911981 [GRCh38]
Chr1:173881119 [GRCh37]
Chr1:1q25.1
pathogenic
NM_001365052.1(SERPINC1):c.-77T>C single nucleotide variant Antithrombin III deficiency [RCV000019656] Chr1:173914893 [GRCh38]
Chr1:173884031 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.500A>C (p.Asn167Thr) single nucleotide variant Antithrombin III deficiency [RCV000019657] Chr1:173911923 [GRCh38]
Chr1:173881061 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.655A>G (p.Asn219Asp) single nucleotide variant Antithrombin III deficiency [RCV000019658] Chr1:173910861 [GRCh38]
Chr1:173879999 [GRCh37]
Chr1:1q25.1
pathogenic|likely pathogenic
NM_000488.3(SERPINC1):c.667T>C (p.Ser223Pro) single nucleotide variant Antithrombin III deficiency [RCV000019659] Chr1:173910849 [GRCh38]
Chr1:173879987 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.379T>C (p.Cys127Arg) single nucleotide variant Antithrombin III deficiency [RCV000019660] Chr1:173914582 [GRCh38]
Chr1:173883720 [GRCh37]
Chr1:1q25.1
pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2
pathogenic
GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1 copy number loss See cases [RCV000053918] Chr1:168314822..175299299 [GRCh38]
Chr1:168284060..175268435 [GRCh37]
Chr1:166550684..173535058 [NCBI36]
Chr1:1q24.2-25.1
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1 copy number loss See cases [RCV000053917] Chr1:166762832..175327423 [GRCh38]
Chr1:166732069..175296559 [GRCh37]
Chr1:164998693..173563182 [NCBI36]
Chr1:1q24.1-25.1
pathogenic
NM_000488.3(SERPINC1):c.625G>A (p.Glu209Lys) single nucleotide variant Malignant melanoma [RCV000064320] Chr1:173910891 [GRCh38]
Chr1:173880029 [GRCh37]
Chr1:172146652 [NCBI36]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.573G>A (p.Gln191=) single nucleotide variant Malignant melanoma [RCV000064321] Chr1:173911850 [GRCh38]
Chr1:173880988 [GRCh37]
Chr1:172147611 [NCBI36]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.-35C>T single nucleotide variant Tuberous sclerosis 2 [RCV000087275] Chr1:173917294 [GRCh38]
Chr1:173886432 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.1016G>A (p.Trp339Ter) single nucleotide variant Tuberous sclerosis 2 [RCV000087276] Chr1:173909689 [GRCh38]
Chr1:173878827 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.4(SERPINC1):c.1030GAG[1] (p.Glu345del) microsatellite Tuberous sclerosis 2 [RCV000087277] Chr1:173909670..173909672 [GRCh38]
Chr1:173878808..173878810 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.1154-7C>A single nucleotide variant Tuberous sclerosis 2 [RCV000087278] Chr1:173907521 [GRCh38]
Chr1:173876659 [GRCh37]
Chr1:1q25.1
not provided
NM_001365052.1(SERPINC1):c.-29_-22del deletion Tuberous sclerosis 2 [RCV000087279] Chr1:173914838..173914845 [GRCh38]
Chr1:173883976..173883983 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.1213C>A (p.Leu405Ile) single nucleotide variant Tuberous sclerosis 2 [RCV000087280] Chr1:173907455 [GRCh38]
Chr1:173876593 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.409-24A>C single nucleotide variant Tuberous sclerosis 2 [RCV000087281] Chr1:173912038 [GRCh38]
Chr1:173881176 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.42-12G>A single nucleotide variant Tuberous sclerosis 2 [RCV000087282] Chr1:173914931 [GRCh38]
Chr1:173884069 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.458T>A (p.Phe153Tyr) single nucleotide variant Tuberous sclerosis 2 [RCV000087283] Chr1:173911965 [GRCh38]
Chr1:173881103 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.4(SERPINC1):c.486_487del (p.Tyr163fs) microsatellite Tuberous sclerosis 2 [RCV000087284] Chr1:173911936..173911937 [GRCh38]
Chr1:173881074..173881075 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.491G>A (p.Arg164Gln) single nucleotide variant Tuberous sclerosis 2 [RCV000087285] Chr1:173911932 [GRCh38]
Chr1:173881070 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.506C>T (p.Ser169Phe) single nucleotide variant Tuberous sclerosis 2 [RCV000087286] Chr1:173911917 [GRCh38]
Chr1:173881055 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.536T>A (p.Phe179Tyr) single nucleotide variant Tuberous sclerosis 2 [RCV000087287] Chr1:173911887 [GRCh38]
Chr1:173881025 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.598G>C (p.Ala200Pro) single nucleotide variant Tuberous sclerosis 2 [RCV000087288] Chr1:173911825 [GRCh38]
Chr1:173880963 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.624+11G>A single nucleotide variant Tuberous sclerosis 2 [RCV000087289] Chr1:173911788 [GRCh38]
Chr1:173880926 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.641C>A (p.Ser214Tyr) single nucleotide variant Tuberous sclerosis 2 [RCV000087290] Chr1:173910875 [GRCh38]
Chr1:173880013 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.849_853dup (p.Tyr285Ter) duplication Tuberous sclerosis 2 [RCV000087291] Chr1:173909851..173909852 [GRCh38]
Chr1:173878989..173878990 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.-11G>A single nucleotide variant Tuberous sclerosis 2 [RCV000087274] Chr1:173917270 [GRCh38]
Chr1:173886408 [GRCh37]
Chr1:1q25.1
not provided
NM_000488.3(SERPINC1):c.886G>C (p.Ala296Pro) single nucleotide variant Antithrombin III deficiency [RCV001099621]|Antithrombin deficiency [RCV000148885] Chr1:173909819 [GRCh38]
Chr1:173878957 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.881G>A (p.Arg294His) single nucleotide variant not provided [RCV000144053] Chr1:173909824 [GRCh38]
Chr1:173878962 [GRCh37]
Chr1:1q25.1
uncertain significance|not provided
NM_000488.3(SERPINC1):c.881G>T (p.Arg294Leu) single nucleotide variant not provided [RCV000144054] Chr1:173909824 [GRCh38]
Chr1:173878962 [GRCh37]
Chr1:1q25.1
not provided
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 copy number gain See cases [RCV000134876] Chr1:171039975..186875957 [GRCh38]
Chr1:171009116..186845089 [GRCh37]
Chr1:169275740..185111712 [NCBI36]
Chr1:1q24.3-31.1
pathogenic
GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1 copy number loss See cases [RCV000137128] Chr1:169218236..178075834 [GRCh38]
Chr1:169187474..178044969 [GRCh37]
Chr1:167454098..176311592 [NCBI36]
Chr1:1q24.2-25.2
pathogenic
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 copy number loss See cases [RCV000142369] Chr1:170929720..191065409 [GRCh38]
Chr1:170898861..191034539 [GRCh37]
Chr1:169165485..189301162 [NCBI36]
Chr1:1q24.3-31.2
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 copy number loss See cases [RCV000143292] Chr1:163382523..175877022 [GRCh38]
Chr1:163352313..175846158 [GRCh37]
Chr1:161618937..174112781 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 copy number loss See cases [RCV000143688] Chr1:170036068..187555148 [GRCh38]
Chr1:170005209..187524280 [GRCh37]
Chr1:168271833..185790903 [NCBI36]
Chr1:1q24.2-31.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
NM_000488.4(SERPINC1):c.456CTT[2] (p.Phe155del) microsatellite Antithrombin III deficiency [RCV000167937] Chr1:173911959..173911961 [GRCh38]
Chr1:173881097..173881099 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1154-5T>C single nucleotide variant Antithrombin III deficiency [RCV001513097]|not provided [RCV000195539] Chr1:173907519 [GRCh38]
Chr1:173876657 [GRCh37]
Chr1:1q25.1
benign
NM_000488.3(SERPINC1):c.645A>G (p.Arg215=) single nucleotide variant not provided [RCV000196443] Chr1:173910871 [GRCh38]
Chr1:173880009 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.3(SERPINC1):c.1060del (p.Arg354fs) deletion Antithrombin III deficiency [RCV000197842] Chr1:173909645 [GRCh38]
Chr1:173878783 [GRCh37]
Chr1:1q25.1
pathogenic
GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1 copy number loss See cases [RCV000239775] Chr1:172742952..181814496 [GRCh37]
Chr1:1q24.3-25.3
pathogenic
NM_000488.3(SERPINC1):c.995C>T (p.Thr332Ile) single nucleotide variant Antithrombin III deficiency [RCV000205675] Chr1:173909710 [GRCh38]
Chr1:173878848 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.678C>T (p.Thr226=) single nucleotide variant Antithrombin III deficiency [RCV000205967] Chr1:173910838 [GRCh38]
Chr1:173879976 [GRCh37]
Chr1:1q25.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000488.3(SERPINC1):c.399A>C (p.Gln133His) single nucleotide variant Antithrombin III deficiency [RCV000226993] Chr1:173914562 [GRCh38]
Chr1:173883700 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.530G>A (p.Arg177His) single nucleotide variant Antithrombin III deficiency [RCV000229849] Chr1:173911893 [GRCh38]
Chr1:173881031 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.716T>C (p.Ile239Thr) single nucleotide variant Antithrombin III deficiency [RCV000232555] Chr1:173910800 [GRCh38]
Chr1:173879938 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.1154G>A (p.Gly385Asp) single nucleotide variant Antithrombin III deficiency [RCV000233293] Chr1:173907514 [GRCh38]
Chr1:173876652 [GRCh37]
Chr1:1q25.1
uncertain significance
GRCh37/hg19 1q25.1(chr1:173697478-174010664)x3 copy number gain Premature ovarian failure [RCV000225196] Chr1:173697478..174010664 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.1011A>G (p.Gln337=) single nucleotide variant Antithrombin III deficiency [RCV000292511]|not specified [RCV000244198] Chr1:173909694 [GRCh38]
Chr1:173878832 [GRCh37]
Chr1:1q25.1
benign|likely benign
NM_000488.3(SERPINC1):c.981A>G (p.Val327=) single nucleotide variant Antithrombin III deficiency [RCV000392683]|not specified [RCV000254137] Chr1:173909724 [GRCh38]
Chr1:173878862 [GRCh37]
Chr1:1q25.1
benign|likely benign
NM_000488.3(SERPINC1):c.870C>T (p.Phe290=) single nucleotide variant Antithrombin III deficiency [RCV000306901] Chr1:173909835 [GRCh38]
Chr1:173878973 [GRCh37]
Chr1:1q25.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000488.3(SERPINC1):c.1096C>G (p.Gln366Glu) single nucleotide variant Antithrombin III deficiency [RCV000336934]|not provided [RCV000994197] Chr1:173909609 [GRCh38]
Chr1:173878747 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.1005G>A (p.Val335=) single nucleotide variant Antithrombin III deficiency [RCV000349816] Chr1:173909700 [GRCh38]
Chr1:173878838 [GRCh37]
Chr1:1q25.1
benign|likely benign
NM_000488.3(SERPINC1):c.-88G>A single nucleotide variant Antithrombin III deficiency [RCV000367301] Chr1:173917347 [GRCh38]
Chr1:173886485 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.-57G>A single nucleotide variant Antithrombin III deficiency [RCV000403071] Chr1:173917316 [GRCh38]
Chr1:173886454 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.525C>T (p.Ala175=) single nucleotide variant Antithrombin III deficiency [RCV000526354] Chr1:173911898 [GRCh38]
Chr1:173881036 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.3(SERPINC1):c.1054A>G (p.Met352Val) single nucleotide variant Antithrombin III deficiency [RCV000375162] Chr1:173909651 [GRCh38]
Chr1:173878789 [GRCh37]
Chr1:1q25.1
uncertain significance
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) copy number gain not provided [RCV000767621] Chr1:169423492..180367623 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
NM_000488.3(SERPINC1):c.914C>A (p.Pro305His) single nucleotide variant Antithrombin III deficiency [RCV000866943]|not specified [RCV000733370] Chr1:173909791 [GRCh38]
Chr1:173878929 [GRCh37]
Chr1:1q25.1
benign|likely benign
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 copy number loss See cases [RCV000447593] Chr1:169873155..181823980 [GRCh37]
Chr1:1q24.2-25.3
pathogenic
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 copy number loss See cases [RCV000448686] Chr1:171990029..195086758 [GRCh37]
Chr1:1q24.3-31.3
pathogenic
NC_000001.11:g.(?_173903804)_(173917378_?)del deletion Antithrombin III deficiency [RCV000470455] Chr1:173903804..173917378 [GRCh38]
Chr1:173872942..173886516 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.805G>A (p.Glu269Lys) single nucleotide variant Antithrombin III deficiency [RCV000471250] Chr1:173909900 [GRCh38]
Chr1:173879038 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.1154-14G>A single nucleotide variant Antithrombin III deficiency [RCV000456535] Chr1:173907528 [GRCh38]
Chr1:173876666 [GRCh37]
Chr1:1q25.1
pathogenic|likely pathogenic
NM_000488.3(SERPINC1):c.662G>C (p.Trp221Ser) single nucleotide variant Antithrombin III deficiency [RCV000504564] Chr1:173910854 [GRCh38]
Chr1:173879992 [GRCh37]
Chr1:1q25.1
pathogenic|uncertain significance
NM_000488.3(SERPINC1):c.595G>A (p.Gly199Arg) single nucleotide variant not provided [RCV000497666] Chr1:173911828 [GRCh38]
Chr1:173880966 [GRCh37]
Chr1:1q25.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000488.3(SERPINC1):c.572A>G (p.Gln191Arg) single nucleotide variant not provided [RCV000492935] Chr1:173911851 [GRCh38]
Chr1:173880989 [GRCh37]
Chr1:1q25.1
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000488.3(SERPINC1):c.1315C>T (p.Pro439Ser) single nucleotide variant Antithrombin III deficiency [RCV000635203]|Deep venous thrombosis [RCV000852018] Chr1:173903969 [GRCh38]
Chr1:173873107 [GRCh37]
Chr1:1q25.1
likely pathogenic|uncertain significance
NM_000488.3(SERPINC1):c.553A>G (p.Thr185Ala) single nucleotide variant Antithrombin III deficiency [RCV000635204] Chr1:173911870 [GRCh38]
Chr1:173881008 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.3(SERPINC1):c.594T>C (p.Tyr198=) single nucleotide variant Antithrombin III deficiency [RCV000635205] Chr1:173911829 [GRCh38]
Chr1:173880967 [GRCh37]
Chr1:1q25.1
likely benign|conflicting interpretations of pathogenicity
NM_000488.3(SERPINC1):c.529C>T (p.Arg177Cys) single nucleotide variant Antithrombin III deficiency [RCV000635206] Chr1:173911894 [GRCh38]
Chr1:173881032 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.3(SERPINC1):c.708G>A (p.Ser236=) single nucleotide variant Antithrombin III deficiency [RCV000635202] Chr1:173910808 [GRCh38]
Chr1:173879946 [GRCh37]
Chr1:1q25.1
uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 copy number gain See cases [RCV000512520] Chr1:173138799..185129406 [GRCh37]
Chr1:1q25.1-25.3
likely pathogenic
NM_000488.3(SERPINC1):c.1060C>T (p.Arg354Cys) single nucleotide variant Antithrombin III deficiency [RCV000693135] Chr1:173909645 [GRCh38]
Chr1:173878783 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.173dup (p.Glu59fs) duplication Antithrombin III deficiency [RCV000851716] Chr1:173914787..173914788 [GRCh38]
Chr1:173883925..173883926 [GRCh37]
Chr1:1q25.1
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 copy number loss not provided [RCV000736735] Chr1:173131908..187406532 [GRCh37]
Chr1:1q25.1-31.1
pathogenic
Single allele deletion 1q24q25 microdeletion syndrome [RCV000754969] Chr1:169095250..175778910 [GRCh37]
Chr1:1q24.2-25.1
pathogenic
NM_000488.3(SERPINC1):c.244G>T (p.Glu82Ter) single nucleotide variant not provided [RCV000761687] Chr1:173914717 [GRCh38]
Chr1:173883855 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.350C>T (p.Thr117Met) single nucleotide variant not provided [RCV000994199] Chr1:173914611 [GRCh38]
Chr1:173883749 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.42-1G>C single nucleotide variant not provided [RCV000994200] Chr1:173914920 [GRCh38]
Chr1:173884058 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.1099C>G (p.Leu367Val) single nucleotide variant Antithrombin III deficiency [RCV001054938] Chr1:173909606 [GRCh38]
Chr1:173878744 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.693C>T (p.Thr231=) single nucleotide variant Antithrombin III deficiency [RCV000864619] Chr1:173910823 [GRCh38]
Chr1:173879961 [GRCh37]
Chr1:1q25.1
benign
NM_000488.3(SERPINC1):c.633A>G (p.Ala211=) single nucleotide variant Antithrombin III deficiency [RCV001452383]|not provided [RCV000867065] Chr1:173910883 [GRCh38]
Chr1:173880021 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.3(SERPINC1):c.201C>T (p.Gly67=) single nucleotide variant Antithrombin III deficiency [RCV001432689]|not provided [RCV000867889] Chr1:173914760 [GRCh38]
Chr1:173883898 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.3(SERPINC1):c.1315C>A (p.Pro439Thr) single nucleotide variant Abnormal thrombosis [RCV000852017] Chr1:173903969 [GRCh38]
Chr1:173873107 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.771del (p.Leu256_Trp257insTer) deletion Antithrombin III deficiency [RCV000852207] Chr1:173909934 [GRCh38]
Chr1:173879072 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.1154-50_1218+50del deletion Antithrombin III deficiency [RCV000852262] Chr1:173907400..173907564 [GRCh38]
Chr1:173876538..173876702 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.851T>A (p.Met284Lys) single nucleotide variant Antithrombin III deficiency [RCV000851901] Chr1:173909854 [GRCh38]
Chr1:173878992 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.624+1G>A single nucleotide variant Antithrombin III deficiency [RCV000856668] Chr1:173911798 [GRCh38]
Chr1:173880936 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.766del (p.Leu256fs) deletion Antithrombin III deficiency [RCV000799362] Chr1:173909939 [GRCh38]
Chr1:173879077 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.448dup (p.Gln150fs) duplication Antithrombin III deficiency [RCV000819059] Chr1:173911974..173911975 [GRCh38]
Chr1:173881112..173881113 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.1153+5G>T single nucleotide variant Antithrombin III deficiency [RCV000799445] Chr1:173909547 [GRCh38]
Chr1:173878685 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.536T>C (p.Phe179Ser) single nucleotide variant Antithrombin III deficiency [RCV000818141] Chr1:173911887 [GRCh38]
Chr1:173881025 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.449A>C (p.Gln150Pro) single nucleotide variant Antithrombin III deficiency [RCV000810125] Chr1:173911974 [GRCh38]
Chr1:173881112 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.299A>G (p.Asp100Gly) single nucleotide variant Antithrombin III deficiency [RCV001101591]|not provided [RCV000786221] Chr1:173914662 [GRCh38]
Chr1:173883800 [GRCh37]
Chr1:1q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000488.3(SERPINC1):c.1376C>A (p.Ala459Asp) single nucleotide variant Antithrombin III deficiency [RCV000851691] Chr1:173903908 [GRCh38]
Chr1:173873046 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.415_420del (p.Lys139_Phe140del) deletion Antithrombin III deficiency [RCV000818759] Chr1:173912003..173912008 [GRCh38]
Chr1:173881141..173881146 [GRCh37]
Chr1:1q25.1
pathogenic
NC_000001.11:g.(?_173903889)_(173917430_?)del deletion Antithrombin III deficiency [RCV001033571] Chr1:173873027..173886568 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.801_805del (p.Lys268fs) deletion Antithrombin III deficiency [RCV000851891] Chr1:173909900..173909904 [GRCh38]
Chr1:173879038..173879042 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.155del (p.Met52fs) deletion Antithrombin III deficiency [RCV000852036] Chr1:173914806 [GRCh38]
Chr1:173883944 [GRCh37]
Chr1:1q25.1
likely pathogenic
Single allele deletion Antithrombin III deficiency [RCV000852268] Chr1:173911749..173917428 [GRCh38]
Chr1:173880887..173886566 [GRCh37]
Chr1:1q25.1
likely pathogenic
NC_000001.10:g.172652343_183538289del10885947 deletion 1q24q25 microdeletion syndrome [RCV000785662] Chr1:172652343..183538289 [GRCh37]
Chr1:1q24.3-25.3
pathogenic
NM_000488.3(SERPINC1):c.363G>A (p.Met121Ile) single nucleotide variant Antithrombin III deficiency [RCV000798956] Chr1:173914598 [GRCh38]
Chr1:173883736 [GRCh37]
Chr1:1q25.1
uncertain significance
Single allele deletion Growth abnormality [RCV000787414] Chr1:173401888..174124738 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.1342C>T (p.Pro448Ser) single nucleotide variant Antithrombin III deficiency [RCV001097813] Chr1:173903942 [GRCh38]
Chr1:173873080 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.946A>T (p.Ile316Phe) single nucleotide variant Antithrombin III deficiency [RCV001041950] Chr1:173909759 [GRCh38]
Chr1:173878897 [GRCh37]
Chr1:1q25.1
uncertain significance
GRCh37/hg19 1q25.1(chr1:173880477-174052900)x3 copy number gain not provided [RCV000848604] Chr1:173880477..174052900 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.400del (p.Gln133_Leu134insTer) deletion Antithrombin III deficiency [RCV000851776] Chr1:173914561 [GRCh38]
Chr1:173883699 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.830del (p.Glu277fs) deletion Antithrombin III deficiency [RCV000851895] Chr1:173909875 [GRCh38]
Chr1:173879013 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.159C>A (p.Cys53Ter) single nucleotide variant Deep venous thrombosis [RCV000852038] Chr1:173914802 [GRCh38]
Chr1:173883940 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.322_327del (p.Ile108_Phe109del) deletion Antithrombin III deficiency [RCV000852112] Chr1:173914634..173914639 [GRCh38]
Chr1:173883772..173883777 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.0_41+931del deletion Antithrombin III deficiency [RCV000852263] Chr1:173916288..173918402 [GRCh38]
Chr1:173885426..173887540 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.797C>A (p.Thr266Lys) single nucleotide variant Antithrombin III deficiency [RCV000851889] Chr1:173909908 [GRCh38]
Chr1:173879046 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_001365052.1(SERPINC1):c.716A>T (p.Glu239Val) single nucleotide variant Antithrombin III deficiency [RCV001206737] Chr1:173909845 [GRCh38]
Chr1:173878983 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_001365052.1(SERPINC1):c.-283T>A single nucleotide variant Antithrombin III deficiency [RCV001210419] Chr1:173917229 [GRCh38]
Chr1:173886367 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_001365052.1(SERPINC1):c.266T>C (p.Val89Ala) single nucleotide variant Antithrombin III deficiency [RCV001212288] Chr1:173912013 [GRCh38]
Chr1:173881151 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_001365052.1(SERPINC1):c.1062G>C (p.Lys354Asn) single nucleotide variant Antithrombin III deficiency [RCV001247799] Chr1:173907462 [GRCh38]
Chr1:173876600 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.1301T>G (p.Phe434Cys) single nucleotide variant Antithrombin III deficiency [RCV000852011] Chr1:173903983 [GRCh38]
Chr1:173873121 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.1393T>C (p.Ter465Gln) single nucleotide variant Antithrombin III deficiency [RCV000852020] Chr1:173903891 [GRCh38]
Chr1:173873029 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.592T>C (p.Tyr198His) single nucleotide variant Antithrombin III deficiency [RCV000852166] Chr1:173911831 [GRCh38]
Chr1:173880969 [GRCh37]
Chr1:1q25.1
likely pathogenic
Single allele deletion Antithrombin III deficiency [RCV000852261] Chr1:173872897..173886566 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.953C>T (p.Pro318Leu) single nucleotide variant Antithrombin III deficiency [RCV000851915] Chr1:173909752 [GRCh38]
Chr1:173878890 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.550del (p.Thr185fs) deletion Antithrombin III deficiency [RCV000852159] Chr1:173911873 [GRCh38]
Chr1:173881011 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.29C>A (p.Thr10Asn) single nucleotide variant Antithrombin III deficiency [RCV001101594]|not provided [RCV001090509] Chr1:173917231 [GRCh38]
Chr1:173886369 [GRCh37]
Chr1:1q25.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000488.3(SERPINC1):c.1172G>A (p.Arg391Gln) single nucleotide variant Antithrombin III deficiency [RCV001097814] Chr1:173907496 [GRCh38]
Chr1:173876634 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_001365052.1(SERPINC1):c.490G>A (p.Glu164Lys) single nucleotide variant not provided [RCV001172220] Chr1:173910882 [GRCh38]
Chr1:173880020 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_001365052.1(SERPINC1):c.1121T>C (p.Ile374Thr) single nucleotide variant Antithrombin III deficiency [RCV001243857] Chr1:173904019 [GRCh38]
Chr1:173873157 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.1157T>C (p.Ile386Thr) single nucleotide variant Antithrombin III deficiency [RCV001070670] Chr1:173907511 [GRCh38]
Chr1:173876649 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.3(SERPINC1):c.404T>C (p.Met135Thr) single nucleotide variant not provided [RCV000994198] Chr1:173914557 [GRCh38]
Chr1:173883695 [GRCh37]
Chr1:1q25.1
uncertain significance
GRCh37/hg19 1q25.1(chr1:173705375-173961992)x3 copy number gain not provided [RCV001005153] Chr1:173705375..173961992 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.341G>A (p.Ser114Asn) single nucleotide variant Antithrombin III deficiency [RCV001045955] Chr1:173914620 [GRCh38]
Chr1:173883758 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.408+4C>T single nucleotide variant Antithrombin III deficiency [RCV001101590] Chr1:173914549 [GRCh38]
Chr1:173883687 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.233G>A (p.Arg78Gln) single nucleotide variant Antithrombin III deficiency [RCV001101592] Chr1:173914728 [GRCh38]
Chr1:173883866 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.47T>C (p.Val16Ala) single nucleotide variant Antithrombin III deficiency [RCV001101593] Chr1:173914914 [GRCh38]
Chr1:173884052 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.3(SERPINC1):c.975C>G (p.Ala325=) single nucleotide variant Antithrombin III deficiency [RCV001099620] Chr1:173909730 [GRCh38]
Chr1:173878868 [GRCh37]
Chr1:1q25.1
uncertain significance
GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1 copy number loss not provided [RCV001005149] Chr1:167430471..174635618 [GRCh37]
Chr1:1q24.2-25.1
pathogenic
NM_000488.3(SERPINC1):c.1066C>T (p.Arg356Cys) single nucleotide variant Antithrombin III deficiency [RCV001097815] Chr1:173909639 [GRCh38]
Chr1:173878777 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_001365052.1(SERPINC1):c.1171C>G (p.Pro391Ala) single nucleotide variant Antithrombin III deficiency [RCV001231167] Chr1:173903969 [GRCh38]
Chr1:173873107 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_001365052.1(SERPINC1):c.686_687del (p.Glu229fs) microsatellite Antithrombin III deficiency [RCV001235412] Chr1:173909874..173909875 [GRCh38]
Chr1:173879012..173879013 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.3(SERPINC1):c.670A>T (p.Asn224Tyr) single nucleotide variant not provided [RCV001027531] Chr1:173910846 [GRCh38]
Chr1:173879984 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_001365052.1(SERPINC1):c.341T>C (p.Leu114Pro) single nucleotide variant Antithrombin III deficiency [RCV001246103] Chr1:173911938 [GRCh38]
Chr1:173881076 [GRCh37]
Chr1:1q25.1
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 copy number gain not provided [RCV001258487] Chr1:173162501..182702252 [GRCh37]
Chr1:1q25.1-25.3
pathogenic
NM_000488.4(SERPINC1):c.883G>A (p.Val295Met) single nucleotide variant not provided [RCV001312108] Chr1:173909822 [GRCh38]
Chr1:173878960 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.4(SERPINC1):c.283T>C (p.Tyr95His) single nucleotide variant Antithrombin III deficiency [RCV001298024] Chr1:173914678 [GRCh38]
Chr1:173883816 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.4(SERPINC1):c.871C>T (p.Arg291Cys) single nucleotide variant Antithrombin III deficiency [RCV001319826] Chr1:173909834 [GRCh38]
Chr1:173878972 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.4(SERPINC1):c.665T>A (p.Val222Glu) single nucleotide variant Antithrombin III deficiency [RCV001351166] Chr1:173910851 [GRCh38]
Chr1:173879989 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.4(SERPINC1):c.719A>G (p.Asn240Ser) single nucleotide variant Antithrombin III deficiency [RCV001414798] Chr1:173910797 [GRCh38]
Chr1:173879935 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.1119C>T (p.Val373=) single nucleotide variant Antithrombin III deficiency [RCV001395876] Chr1:173909586 [GRCh38]
Chr1:173878724 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.408G>A (p.Glu136=) single nucleotide variant Antithrombin III deficiency [RCV001329927] Chr1:173914553 [GRCh38]
Chr1:173883691 [GRCh37]
Chr1:1q25.1
uncertain significance
NM_000488.4(SERPINC1):c.423C>T (p.Asp141=) single nucleotide variant Antithrombin III deficiency [RCV001492833] Chr1:173912000 [GRCh38]
Chr1:173881138 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.366C>G (p.Thr122=) single nucleotide variant Antithrombin III deficiency [RCV001434743] Chr1:173914595 [GRCh38]
Chr1:173883733 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.1190C>G (p.Ser397Ter) single nucleotide variant Antithrombin III deficiency [RCV001380042] Chr1:173907478 [GRCh38]
Chr1:173876616 [GRCh37]
Chr1:1q25.1
pathogenic
NM_000488.4(SERPINC1):c.219G>A (p.Pro73=) single nucleotide variant Antithrombin III deficiency [RCV001438657] Chr1:173914742 [GRCh38]
Chr1:173883880 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.1057C>T (p.Pro353Ser) single nucleotide variant Antithrombin III deficiency [RCV001377779] Chr1:173909648 [GRCh38]
Chr1:173878786 [GRCh37]
Chr1:1q25.1
likely pathogenic
NM_000488.4(SERPINC1):c.1218+7A>G single nucleotide variant Antithrombin III deficiency [RCV001444811] Chr1:173907443 [GRCh38]
Chr1:173876581 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.777A>C (p.Ser259=) single nucleotide variant Antithrombin III deficiency [RCV001431573] Chr1:173909928 [GRCh38]
Chr1:173879066 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.586T>C (p.Leu196=) single nucleotide variant Antithrombin III deficiency [RCV001445659] Chr1:173911837 [GRCh38]
Chr1:173880975 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.756C>T (p.Tyr252=) single nucleotide variant Antithrombin III deficiency [RCV001485839] Chr1:173910760 [GRCh38]
Chr1:173879898 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.87C>T (p.Cys29=) single nucleotide variant Antithrombin III deficiency [RCV001460320] Chr1:173914874 [GRCh38]
Chr1:173884012 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.439A>G (p.Thr147Ala) single nucleotide variant Antithrombin III deficiency [RCV001523260] Chr1:173911984 [GRCh38]
Chr1:173881122 [GRCh37]
Chr1:1q25.1
benign
NM_000488.4(SERPINC1):c.910T>C (p.Leu304=) single nucleotide variant Antithrombin III deficiency [RCV001442068] Chr1:173909795 [GRCh38]
Chr1:173878933 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.1254C>T (p.Thr418=) single nucleotide variant Antithrombin III deficiency [RCV001483253] Chr1:173904030 [GRCh38]
Chr1:173873168 [GRCh37]
Chr1:1q25.1
likely benign
NM_000488.4(SERPINC1):c.51T>C (p.Tyr17=) single nucleotide variant Antithrombin III deficiency [RCV001503638] Chr1:173914910 [GRCh38]
Chr1:173884048 [GRCh37]
Chr1:1q25.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:775 AgrOrtholog
COSMIC SERPINC1 COSMIC
Ensembl Genes ENSG00000117601 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000356671 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000367698 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.497.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117601 GTEx
HGNC ID HGNC:775 ENTREZGENE
Human Proteome Map SERPINC1 Human Proteome Map
InterPro Antithrombin_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AT-III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:462 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 462 ENTREZGENE
OMIM 107300 OMIM
  613118 OMIM
PANTHER PTHR11461 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11461:SF53 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Serpin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35026 PharmGKB
PROSITE SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R944 ENTREZGENE, UniProtKB/TrEMBL
  A0A0K0Q2Z1_HUMAN UniProtKB/TrEMBL
  A0A2H4R0R4_HUMAN UniProtKB/TrEMBL
  A0A2U8KGL5_HUMAN UniProtKB/TrEMBL
  A0A481U728_HUMAN UniProtKB/TrEMBL
  A0A481U987_HUMAN UniProtKB/TrEMBL
  ANT3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q7KYY4_HUMAN UniProtKB/TrEMBL
  Q8TCE1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R6P0 UniProtKB/Swiss-Prot
  P78439 UniProtKB/Swiss-Prot
  P78447 UniProtKB/Swiss-Prot
  Q13815 UniProtKB/Swiss-Prot
  Q5TC78 UniProtKB/Swiss-Prot
  Q7KZ43 UniProtKB/Swiss-Prot
  Q7KZ97 UniProtKB/Swiss-Prot
  Q9UC78 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SERPINC1  serpin family C member 1    serpin peptidase inhibitor, clade C (antithrombin), member 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 SERPINC1  serpin peptidase inhibitor, clade C (antithrombin), member 1  SERPINC1  serpin peptidase inhibitor, clade C (antithrombin), member 1  Symbol and/or name change 5135510 APPROVED