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# | Reference Title | Reference Citation |
1. | Anti-protein C antibodies are associated with resistance to endogenous protein C activation and a severe thrombotic phenotype in antiphospholipid syndrome. | Arachchillage DR, etal., J Thromb Haemost. 2014 Nov;12(11):1801-9. doi: 10.1111/jth.12722. Epub 2014 Oct 3. |
2. | Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia. | Berg LP, etal., Hum Mol Genet. 1994 Dec;3(12):2147-52. |
3. | Comparative effects of recombinant human activated protein C and dexamethasone in experimental septic shock. | Bouazza Y, etal., Intensive Care Med. 2011 Nov;37(11):1857-64. doi: 10.1007/s00134-011-2327-9. Epub 2011 Aug 18. |
4. | Mechanisms of anticoagulant and cytoprotective actions of the protein C pathway. | Bouwens EA, etal., J Thromb Haemost. 2013 Jun;11 Suppl 1:242-53. doi: 10.1111/jth.12247. |
5. | Activated protein C therapy in a rat heat stroke model. | Chen CM, etal., Crit Care Med. 2006 Jul;34(7):1960-6. |
6. | Increase in activated protein C mediates acute traumatic coagulopathy in mice. | Chesebro BB, etal., Shock. 2009 Dec;32(6):659-65. doi: 10.1097/SHK.0b013e3181a5a632. |
7. | Activated protein C inhibits neutrophil migration in allergic asthma: a randomised trial. | de Boer JD, etal., Eur Respir J. 2015 Dec;46(6):1636-44. doi: 10.1183/13993003.00459-2015. Epub 2015 Sep 17. |
8. | Activated protein C rescues the retina from ischemia-induced cell death. | Du ZJ, etal., Invest Ophthalmol Vis Sci. 2011 Feb 23;52(2):987-93. doi: 10.1167/iovs.10-5557. |
9. | The effects of activated protein C and prostacyclin on arterial oxygenation and protein leakage in the lung and the gut under endotoxaemia in the rat. | Dubniks M and Grande PO, Acta Anaesthesiol Scand. 2008 Mar;52(3):381-7. doi: 10.1111/j.1399-6576.2007.01532.x. Epub 2008 Jan 16. |
10. | Protein C, antithrombin, and venous thromboembolism incidence: a prospective population-based study. | Folsom AR, etal., Arterioscler Thromb Vasc Biol. 2002 Jun 1;22(6):1018-22. |
11. | Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism. | Gandrille S, etal., Thromb Haemost. 1993 Nov 15;70(5):747-52. |
12. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
13. | Distinct functions of activated protein C differentially attenuate acute kidney injury. | Gupta A, etal., J Am Soc Nephrol. 2009 Feb;20(2):267-77. doi: 10.1681/ASN.2008030294. Epub 2008 Dec 17. |
14. | Evaluation of protein C and other biomarkers as predictors of mortality in a rat cecal ligation and puncture model of sepsis. | Heuer JG, etal., Crit Care Med. 2004 Jul;32(7):1570-8. |
15. | Activated protein C in ischemia-reperfusion injury after experimental lung transplantation. | Hirayama S, etal., J Heart Lung Transplant. 2009 Nov;28(11):1180-4. doi: 10.1016/j.healun.2009.06.026. Epub 2009 Sep 26. |
16. | Activated protein C reduces the ischemia/reperfusion-induced spinal cord injury in rats by inhibiting neutrophil activation. | Hirose K, etal., Ann Surg. 2000 Aug;232(2):272-80. |
17. | Activation of protein C during reperfusion in clinical liver transplantation. | Ilmakunnas M, etal., Transplantation. 2003 Feb 27;75(4):467-72. |
18. | Activated protein C reduces stress-induced gastric mucosal injury in rats by inhibiting the endothelial cell injury. | Isobe H, etal., J Thromb Haemost. 2004 Feb;2(2):313-20. |
19. | Inactivation of the gene for anticoagulant protein C causes lethal perinatal consumptive coagulopathy in mice. | Jalbert LR, etal., J Clin Invest. 1998 Oct 15;102(8):1481-8. |
20. | Activated protein C ameliorates Bacillus anthracis lethal toxin-induced lethal pathogenesis in rats. | Kau JH, etal., J Biomed Sci. 2012 Nov 21;19:98. doi: 10.1186/1423-0127-19-98. |
21. | Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. | Kim HJ, etal., Haematologica. 2014 Mar;99(3):561-9. doi: 10.3324/haematol.2013.092023. Epub 2013 Oct 25. |
22. | Combined occurrence of a heterozygous missense mutation in the protein C gene and allelic exclusion of one protein S allele leading to severe venous thrombosis. | Knoll B, etal., Thromb Res. 2001 Jul 1;103(1):3-8. |
23. | Activated protein C rescues the cochlea from noise-induced hearing loss. | Kurioka T, etal., Brain Res. 2014 Oct 2;1583:201-10. doi: 10.1016/j.brainres.2014.07.052. Epub 2014 Aug 7. |
24. | Activated protein C prevents hepatic ischaemia-reperfusion injury in rats. | Kuriyama N, etal., Liver Int. 2009 Feb;29(2):299-307. doi: 10.1111/j.1478-3231.2008.01796.x. Epub 2008 May 26. |
25. | Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. | Lind B, etal., Blood. 1993 Oct 15;82(8):2423-32. |
26. | Preeclampsia is associated with a reduced response to activated protein C. | Lindoff C, etal., Am J Obstet Gynecol. 1997 Feb;176(2):457-60. |
27. | Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations. | Liu H, etal., Gene. 2015 May 25;563(1):35-40. doi: 10.1016/j.gene.2015.03.002. Epub 2015 Mar 4. |
28. | MicroRNA expression following activated protein C treatment during septic shock. | Moore CC, etal., J Surg Res. 2013 Jun 1;182(1):116-26. doi: 10.1016/j.jss.2012.07.063. Epub 2012 Aug 17. |
29. | Blood coagulation. | Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83. |
30. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
31. | Activated protein C improves the severity of severe acute pancreatitis via up-regulating the expressions of endothelial cell protein C receptor and thrombomodulin. | Ping C, etal., Dig Dis Sci. 2010 Jun;55(6):1599-609. doi: 10.1007/s10620-009-0909-y. Epub 2009 Aug 13. |
32. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
33. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
34. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
35. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
36. | Intravenous administration of activated protein C in Pseudomonas-induced lung injury: impact on lung fluid balance and the inflammatory response. | Robriquet L, etal., Respir Res. 2006 Mar 22;7:41. |
37. | Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. | Romeo G, etal., Proc Natl Acad Sci U S A. 1987 May;84(9):2829-32. |
38. | Acute and severe coagulopathy in adult mice following silencing of hepatic antithrombin and protein C production. | Safdar H, etal., Blood. 2013 May 23;121(21):4413-6. doi: 10.1182/blood-2012-11-465674. Epub 2013 Apr 2. |
39. | Inhibition of coagulation and inflammation by activated protein C or antithrombin reduces intestinal ischemia/reperfusion injury in rats. | Schoots IG, etal., Crit Care Med. 2004 Jun;32(6):1375-83. |
40. | Homozygosity for R87H missense mutation and for a rare intron 7 DNA variant (7054G --> A) in the PROC genes of three siblings initially classified as heterozygotes for protein C deficiency. | Soria JM, etal., Blood Coagul Fibrinolysis. 1996 Jan;7(1):15-23. |
41. | Changes in coagulation and fibrinolysis of post-SARS osteonecrosis in a Chinese population. | Sun W, etal., Int Orthop. 2006 Jun;30(3):143-6. doi: 10.1007/s00264-005-0067-6. Epub 2006 Mar 18. |
42. | [Hematological changes and related gene mutation of post-severe acute respiratory syndrome patients with osteonecrosis]. | Sun W, etal., Zhonghua Yi Xue Za Zhi. 2006 Feb 21;86(7):442-5. |
43. | Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population. | Tang L, etal., PLoS One. 2012;7(4):e35773. doi: 10.1371/journal.pone.0035773. Epub 2012 Apr 24. |
44. | Activated protein C attenuates intestinal reperfusion-induced acute lung injury: an experimental study in a rat model. | Teke Z, etal., Am J Surg. 2008 Jun;195(6):861-73. doi: 10.1016/j.amjsurg.2007.06.025. |
45. | R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese. | Tsay W and Shen MC, Am J Hematol. 2004 May;76(1):8-13. |
46. | Activated protein C analog protects from ischemic stroke and extends the therapeutic window of tissue-type plasminogen activator in aged female mice and hypertensive rats. | Wang Y, etal., Stroke. 2013 Dec;44(12):3529-36. doi: 10.1161/STROKEAHA.113.003350. Epub 2013 Oct 24. |
47. | Plasma levels of activated protein C-protein C inhibitor complex in patients with hypercoagulable states. | Watanabe R, etal., Am J Hematol. 2000 Sep;65(1):35-40. |
48. | Resistance to activated protein C and the leiden mutation: high prevalence in patients with abruptio placentae. | Wiener-Megnagi Z, etal., Am J Obstet Gynecol. 1998 Dec;179(6 Pt 1):1565-7. |
49. | Endogenous activated protein C signaling is critical to protection of mice from lipopolysaccaride-induced septic shock. | Xu J, etal., J Thromb Haemost. 2009 May;7(5):851-6. doi: 10.1111/j.1538-7836.2009.03333.x. Epub 2009 Mar 5. |
50. | The antithrombotic effect of human activated protein C on He-Ne laser-induced thrombosis in rat mesenteric microvessels. | Yamashita T, etal., Thromb Res. 1994 Jul 1;75(1):33-40. |
51. | Reduced protein C Global assay level in infertile women prior to IVF-ET treatment. | Younis JS, etal., J Assist Reprod Genet. 2014 Jan;31(1):101-7. doi: 10.1007/s10815-013-0131-x. Epub 2013 Nov 6. |
PMID:468991 | PMID:1270437 | PMID:1290170 | PMID:1301954 | PMID:1301959 | PMID:1347706 | PMID:1433913 | PMID:1469096 | PMID:1498334 | PMID:1511988 | PMID:1511989 | PMID:1544894 |
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PMID:19546541 | PMID:19587380 | PMID:19625989 | PMID:19644401 | PMID:19682239 | PMID:19686413 | PMID:19691480 | PMID:19765701 | PMID:19774219 | PMID:19794411 | PMID:19874463 | PMID:19892996 |
PMID:19913121 | PMID:19922983 | PMID:19924026 | PMID:19958090 | PMID:20066740 | PMID:20077116 | PMID:20127387 | PMID:20128871 | PMID:20156643 | PMID:20174758 | PMID:20180321 | PMID:20187890 |
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PMID:25879167 | PMID:26082331 | PMID:26250584 | PMID:26354831 | PMID:26552309 | PMID:26663133 | PMID:26800564 | PMID:27172833 | PMID:27215212 | PMID:27345772 | PMID:27456888 | PMID:27517348 |
PMID:27561318 | PMID:27794481 | PMID:27882376 | PMID:28082259 | PMID:28111891 | PMID:28174134 | PMID:28186585 | PMID:28211163 | PMID:28294177 | PMID:28376316 | PMID:28405673 | PMID:28408624 |
PMID:28468828 | PMID:28514442 | PMID:28607330 | PMID:28834159 | PMID:28861852 | PMID:29218739 | PMID:29303701 | PMID:29363996 | PMID:29890521 | PMID:30021884 | PMID:30159948 | PMID:30865333 |
PMID:31142255 | PMID:31254973 | PMID:31338992 | PMID:31399531 | PMID:31680443 | PMID:31821907 | PMID:32296183 | PMID:32717757 | PMID:32781781 | PMID:32833261 | PMID:32924112 | PMID:32964666 |
PMID:32980846 | PMID:33675455 | PMID:33812436 | PMID:33961781 | PMID:34077937 | PMID:34112885 | PMID:34261859 | PMID:34655191 | PMID:34978431 | PMID:35008942 | PMID:35031071 | PMID:35231991 |
PMID:35575743 |
PROC (Homo sapiens - human) |
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Proc (Mus musculus - house mouse) |
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Proc (Rattus norvegicus - Norway rat) |
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Proc (Chinchilla lanigera - long-tailed chinchilla) |
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PROC (Pan paniscus - bonobo/pygmy chimpanzee) |
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PROC (Canis lupus familiaris - dog) |
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Proc (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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PROC (Sus scrofa - pig) |
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PROC (Chlorocebus sabaeus - green monkey) |
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Proc (Heterocephalus glaber - naked mole-rat) |
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GDB:176978 |
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GDB:178362 |
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GDB:181257 |
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GDB:181584 |
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GDB:186843 |
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RH70647 |
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D2S2639 |
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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. |
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 | ||||||||||||||||
Medium | 8 | 1 | 436 | 436 | 1 | 437 | 1 | 1 | 93 | 17 | 20 | 1 | 2 | |||
Low | 887 | 932 | 327 | 27 | 616 | 23 | 741 | 69 | 1270 | 221 | 471 | 531 | 15 | 35 | 485 | |
Below cutoff | 1511 | 1971 | 936 | 155 | 1029 | 5 | 3483 | 2028 | 2409 | 89 | 946 | 1034 | 152 | 1117 | 2250 | 1 |
RefSeq Transcripts | NG_016323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_000312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375602 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375603 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375604 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375605 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375606 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375607 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375608 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375609 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375610 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375611 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001375613 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017004505 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024453002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_024453003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047445117 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047445118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB083690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB083693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB083694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB083695 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB083696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB083697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB083698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB083699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB083700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB086849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB086850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB086851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AB086852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC068282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF378903 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH002944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK298280 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK298449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK298454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK303773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY348553 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY348554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY454079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC034377 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM975043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB113383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CQ757487 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CQ821348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CS355172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA642156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GM997828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GM997830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JX030036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
K02059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC027927 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC030234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M11228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S50739 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S51769 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S55227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S58668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S72338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S76088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S76090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U47685 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X02750 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000234071 ⟹ ENSP00000234071 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000402125 ⟹ ENSP00000384225 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000409048 ⟹ ENSP00000386679 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000419985 ⟹ ENSP00000392606 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000427769 ⟹ ENSP00000406295 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000429925 ⟹ ENSP00000412697 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000431364 ⟹ ENSP00000391220 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000442644 ⟹ ENSP00000411241 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000464089 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000474030 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_000312 ⟹ NP_000303 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375602 ⟹ NP_001362531 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375603 ⟹ NP_001362532 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375604 ⟹ NP_001362533 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375605 ⟹ NP_001362534 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375606 ⟹ NP_001362535 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375607 ⟹ NP_001362536 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375608 ⟹ NP_001362537 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375609 ⟹ NP_001362538 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375610 ⟹ NP_001362539 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375611 ⟹ NP_001362540 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001375613 ⟹ NP_001362542 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017004505 ⟹ XP_016859994 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024453002 ⟹ XP_024308770 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_024453003 ⟹ XP_024308771 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047445117 ⟹ XP_047301073 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047445118 ⟹ XP_047301074 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_000303 | (Get FASTA) | NCBI Sequence Viewer |
NP_001362531 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362532 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362533 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362534 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362535 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362536 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362537 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362538 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362539 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362540 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001362542 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016859994 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024308770 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024308771 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047301073 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047301074 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA60164 | (Get FASTA) | NCBI Sequence Viewer |
AAA60165 | (Get FASTA) | NCBI Sequence Viewer | |
AAA60166 | (Get FASTA) | NCBI Sequence Viewer | |
AAB24150 | (Get FASTA) | NCBI Sequence Viewer | |
AAB24651 | (Get FASTA) | NCBI Sequence Viewer | |
AAB25410 | (Get FASTA) | NCBI Sequence Viewer | |
AAB26335 | (Get FASTA) | NCBI Sequence Viewer | |
AAB31410 | (Get FASTA) | NCBI Sequence Viewer | |
AAH34377 | (Get FASTA) | NCBI Sequence Viewer | |
AAK56377 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ24849 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ24850 | (Get FASTA) | NCBI Sequence Viewer | |
AAR23427 | (Get FASTA) | NCBI Sequence Viewer | |
AAY15044 | (Get FASTA) | NCBI Sequence Viewer | |
AFO53522 | (Get FASTA) | NCBI Sequence Viewer | |
BAC21165 | (Get FASTA) | NCBI Sequence Viewer | |
BAC21166 | (Get FASTA) | NCBI Sequence Viewer | |
BAC21167 | (Get FASTA) | NCBI Sequence Viewer | |
BAC21168 | (Get FASTA) | NCBI Sequence Viewer | |
BAC21169 | (Get FASTA) | NCBI Sequence Viewer | |
BAC21170 | (Get FASTA) | NCBI Sequence Viewer | |
BAC21171 | (Get FASTA) | NCBI Sequence Viewer | |
BAC21172 | (Get FASTA) | NCBI Sequence Viewer | |
BAC53629 | (Get FASTA) | NCBI Sequence Viewer | |
BAC53630 | (Get FASTA) | NCBI Sequence Viewer | |
BAC53631 | (Get FASTA) | NCBI Sequence Viewer | |
BAC54280 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60540 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60665 | (Get FASTA) | NCBI Sequence Viewer | |
BAG60669 | (Get FASTA) | NCBI Sequence Viewer | |
BAG64736 | (Get FASTA) | NCBI Sequence Viewer | |
BAS04461 | (Get FASTA) | NCBI Sequence Viewer | |
CAA26528 | (Get FASTA) | NCBI Sequence Viewer | |
CAF32600 | (Get FASTA) | NCBI Sequence Viewer | |
CAG34344 | (Get FASTA) | NCBI Sequence Viewer | |
CAL24228 | (Get FASTA) | NCBI Sequence Viewer | |
CAX30697 | (Get FASTA) | NCBI Sequence Viewer | |
CAX30698 | (Get FASTA) | NCBI Sequence Viewer | |
EAW95320 | (Get FASTA) | NCBI Sequence Viewer | |
P04070 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_000303 ⟸ NM_000312 |
- Peptide Label: | isoform 10 preproprotein |
- UniProtKB: | P04070 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_016859994 ⟸ XM_017004505 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_024308770 ⟸ XM_024453002 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_024308771 ⟸ XM_024453003 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | NP_001362540 ⟸ NM_001375611 |
- Peptide Label: | isoform 10 preproprotein |
RefSeq Acc Id: | NP_001362531 ⟸ NM_001375602 |
- Peptide Label: | isoform 2 |
RefSeq Acc Id: | NP_001362536 ⟸ NM_001375607 |
- Peptide Label: | isoform 1 |
RefSeq Acc Id: | NP_001362534 ⟸ NM_001375605 |
- Peptide Label: | isoform 5 preproprotein |
RefSeq Acc Id: | NP_001362537 ⟸ NM_001375608 |
- Peptide Label: | isoform 9 precursor |
RefSeq Acc Id: | NP_001362539 ⟸ NM_001375610 |
- Peptide Label: | isoform 7 preproprotein |
RefSeq Acc Id: | NP_001362535 ⟸ NM_001375606 |
- Peptide Label: | isoform 3 precursor |
RefSeq Acc Id: | NP_001362532 ⟸ NM_001375603 |
- Peptide Label: | isoform 4 precursor |
RefSeq Acc Id: | NP_001362533 ⟸ NM_001375604 |
- Peptide Label: | isoform 6 precursor |
RefSeq Acc Id: | NP_001362538 ⟸ NM_001375609 |
- Peptide Label: | isoform 8 |
RefSeq Acc Id: | NP_001362542 ⟸ NM_001375613 |
- Peptide Label: | isoform 10 preproprotein |
RefSeq Acc Id: | ENSP00000406295 ⟸ ENST00000427769 |
RefSeq Acc Id: | ENSP00000412697 ⟸ ENST00000429925 |
RefSeq Acc Id: | ENSP00000384225 ⟸ ENST00000402125 |
RefSeq Acc Id: | ENSP00000411241 ⟸ ENST00000442644 |
RefSeq Acc Id: | ENSP00000392606 ⟸ ENST00000419985 |
RefSeq Acc Id: | ENSP00000234071 ⟸ ENST00000234071 |
RefSeq Acc Id: | ENSP00000391220 ⟸ ENST00000431364 |
RefSeq Acc Id: | ENSP00000386679 ⟸ ENST00000409048 |
RefSeq Acc Id: | XP_047301073 ⟸ XM_047445117 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_047301074 ⟸ XM_047445118 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P04070-F1-model_v2 | AlphaFold | P04070 | 1-461 | view protein structure |
RGD ID: | 6861484 | ||||||||
Promoter ID: | EPDNEW_H3907 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | PROC_1 | ||||||||
Description: | protein C, inactivator of coagulation factors Va and VIIIa | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H3908 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6861486 | ||||||||
Promoter ID: | EPDNEW_H3908 | ||||||||
Type: | initiation region | ||||||||
Name: | PROC_2 | ||||||||
Description: | protein C, inactivator of coagulation factors Va and VIIIa | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H3907 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6849868 | ||||||||
Promoter ID: | EP32001 | ||||||||
Type: | single initiation site | ||||||||
Name: | HS_PROC | ||||||||
Description: | Protein C. | ||||||||
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 | ||||||||
Position: |
|
RGD ID: | 6797983 | ||||||||
Promoter ID: | HG_KWN:34858 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3, NB4 | ||||||||
Transcripts: | OTTHUMT00000331026, OTTHUMT00000331027 | ||||||||
Position: |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_000312.4(PROC):c.71-17C>T | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001089427]|not provided [RCV000530308] | Chr2:127421266 [GRCh38] Chr2:128178842 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1042C>T (p.Arg348Ter) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000690]|not provided [RCV001528453] | Chr2:127428602 [GRCh38] Chr2:128186178 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.1332G>C (p.Trp444Cys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000691] | Chr2:127428892 [GRCh38] Chr2:128186468 [GRCh37] Chr2:2q14.3 |
pathogenic |
PROC, ARG12TRP | variation | Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000692] | Chr2:2q13-q14 | pathogenic |
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) | single nucleotide variant | Reduced protein C activity [RCV000851836]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000693]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000694] | Chr2:127426180 [GRCh38] Chr2:128183756 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_000312.4(PROC):c.902C>T (p.Ala301Val) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000695] | Chr2:127428462 [GRCh38] Chr2:128186038 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.629C>T (p.Pro210Leu) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000778563]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000696] | Chr2:127426178 [GRCh38] Chr2:128183754 [GRCh37] Chr2:2q14.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000312.4(PROC):c.925G>A (p.Ala309Thr) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000689442]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000697] | Chr2:127428485 [GRCh38] Chr2:128186061 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.1027G>A (p.Gly343Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000698] | Chr2:127428587 [GRCh38] Chr2:128186163 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.185A>C (p.Glu62Ala) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000699] | Chr2:127421397 [GRCh38] Chr2:128178973 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.226G>A (p.Val76Met) | single nucleotide variant | Abnormal thrombosis [RCV000852081]|Cerebral palsy [RCV001794425]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000700] | Chr2:127421438 [GRCh38] Chr2:128179014 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000195879]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000701] | Chr2:127428560 [GRCh38] Chr2:128186136 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.866C>T (p.Pro289Leu) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000702] | Chr2:127428426 [GRCh38] Chr2:128186002 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.658C>T (p.Arg220Trp) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000703] | Chr2:127426207 [GRCh38] Chr2:128183783 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.659G>A (p.Arg220Gln) | single nucleotide variant | Reduced protein C activity [RCV000852185]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000704]|not provided [RCV002223748] | Chr2:127426208 [GRCh38] Chr2:128183784 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
PROC, 1-BP DEL, 8857G | deletion | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000705] | Chr2:2q13-q14 | pathogenic |
NM_000312.4(PROC):c.814C>T (p.Arg272Cys) | single nucleotide variant | Thromboembolism [RCV000852227]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000706] | Chr2:127428374 [GRCh38] Chr2:128185950 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.552_553insTT (p.Arg185fs) | insertion | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000707] | Chr2:127426101..127426102 [GRCh38] Chr2:128183677..128183678 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.678+9C>T | single nucleotide variant | Reduced protein C activity [RCV002243609]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000708] | Chr2:127426236 [GRCh38] Chr2:128183812 [GRCh37] Chr2:2q14.3 |
pathogenic|uncertain significance |
NM_000312.4(PROC):c.678G>C (p.Gln226His) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000709] | Chr2:127426227 [GRCh38] Chr2:128183803 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) | single nucleotide variant | Deep venous thrombosis [RCV000851884]|Reduced protein C activity [RCV000851885]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV001132310]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000710] | Chr2:127427219 [GRCh38] Chr2:128184795 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000312.4(PROC):c.1335C>G (p.Ile445Met) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal recessive [RCV000000711] | Chr2:127428895 [GRCh38] Chr2:128186471 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.1015G>A (p.Val339Met) | single nucleotide variant | Inborn genetic diseases [RCV001266003]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000712]|not provided [RCV001781151] | Chr2:127428575 [GRCh38] Chr2:128186151 [GRCh37] Chr2:2q14.3 |
pathogenic |
NG_016323.1:g.5006T>C | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000713] | Chr2:127418425 [GRCh38] Chr2:128176001 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.446A>C (p.His149Pro) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000714] | Chr2:127423319 [GRCh38] Chr2:128180895 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.935C>T (p.Ser312Leu) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000000715] | Chr2:127428495 [GRCh38] Chr2:128186071 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 | copy number loss | See cases [RCV000054058] | Chr2:118086324..134964738 [GRCh38] Chr2:118843900..135722308 [GRCh37] Chr2:118560370..135438778 [NCBI36] Chr2:2q14.1-21.3 |
pathogenic |
GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1 | copy number loss | See cases [RCV000054059] | Chr2:121824798..128870804 [GRCh38] Chr2:122582374..129628378 [GRCh37] Chr2:122298844..129344848 [NCBI36] Chr2:2q14.3 |
pathogenic |
GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1 | copy number loss | See cases [RCV000054060] | Chr2:122324343..128371704 [GRCh38] Chr2:123081919..129129278 [GRCh37] Chr2:122798389..128845748 [NCBI36] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.1216A>G (p.Met406Val) | single nucleotide variant | not provided [RCV000657992] | Chr2:127428776 [GRCh38] Chr2:128186352 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.125G>A (p.Arg42His) | single nucleotide variant | Deep venous thrombosis [RCV000851677]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148739] | Chr2:127421337 [GRCh38] Chr2:128178913 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.1201G>A (p.Asp401Asn) | single nucleotide variant | Reduced protein C activity [RCV000851669]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148740] | Chr2:127428761 [GRCh38] Chr2:128186337 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.322C>A (p.His108Asn) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148741]|not provided [RCV000997201] | Chr2:127423093 [GRCh38] Chr2:128180669 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1234G>A (p.Gly412Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148742] | Chr2:127428794 [GRCh38] Chr2:128186370 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.52G>A (p.Gly18Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148743] | Chr2:127419994 [GRCh38] Chr2:128177570 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.160A>T (p.Ser54Cys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148744] | Chr2:127421372 [GRCh38] Chr2:128178948 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.580C>T (p.Arg194Cys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148745]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV001270053] | Chr2:127426129 [GRCh38] Chr2:128183705 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1010C>T (p.Thr337Ile) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148746] | Chr2:127428570 [GRCh38] Chr2:128186146 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.340G>C (p.Gly114Arg) | single nucleotide variant | Reduced protein C activity [RCV002243820]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148747] | Chr2:127423111 [GRCh38] Chr2:128180687 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) | single nucleotide variant | Reduced protein C activity [RCV000851825]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000148748]|not provided [RCV001090272] | Chr2:127426114 [GRCh38] Chr2:128183690 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1 | copy number loss | See cases [RCV000135455] | Chr2:123169989..128460075 [GRCh38] Chr2:123927565..129217649 [GRCh37] Chr2:123644035..128934119 [NCBI36] Chr2:2q14.3 |
pathogenic |
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 | copy number loss | See cases [RCV000136714] | Chr2:123445762..140592538 [GRCh38] Chr2:124203338..141350107 [GRCh37] Chr2:123919808..141066577 [NCBI36] Chr2:2q14.3-22.1 |
pathogenic |
GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1 | copy number loss | See cases [RCV000137467] | Chr2:122847356..129545581 [GRCh38] Chr2:123604932..130303154 [GRCh37] Chr2:123321402..130019624 [NCBI36] Chr2:2q14.3-21.1 |
likely pathogenic |
GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 | copy number gain | See cases [RCV000138369] | Chr2:127063206..130527454 [GRCh38] Chr2:127820782..131285027 [GRCh37] Chr2:127537252..131001497 [NCBI36] Chr2:2q14.3-21.1 |
uncertain significance |
GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 | copy number loss | See cases [RCV000141584] | Chr2:115302067..129071130 [GRCh38] Chr2:116059643..129828703 [GRCh37] Chr2:115776113..129545173 [NCBI36] Chr2:2q14.1-14.3 |
pathogenic |
NM_000312.4(PROC):c.169C>T (p.Arg57Trp) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000168170]|not provided [RCV000490205] | Chr2:127421381 [GRCh38] Chr2:128178957 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.678+10G>A | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000391218]|not specified [RCV001823725] | Chr2:127426237 [GRCh38] Chr2:128183813 [GRCh37] Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000312.4(PROC):c.927C>T (p.Ala309=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000405201] | Chr2:127428487 [GRCh38] Chr2:128186063 [GRCh37] Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000312.4(PROC):c.1161T>C (p.Cys387=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000406034] | Chr2:127428721 [GRCh38] Chr2:128186297 [GRCh37] Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000312.4(PROC):c.400+13G>A | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000273797] | Chr2:127423184 [GRCh38] Chr2:128180760 [GRCh37] Chr2:2q14.3 |
benign|likely benign |
NM_000312.4(PROC):c.-21-5C>T | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000276861]|not provided [RCV000997200] | Chr2:127419917 [GRCh38] Chr2:128177493 [GRCh37] Chr2:2q14.3 |
likely benign|uncertain significance |
NM_000312.4(PROC):c.630G>A (p.Pro210=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000379881] | Chr2:127426179 [GRCh38] Chr2:128183755 [GRCh37] Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000312.4(PROC):c.399C>T (p.Arg133=) | single nucleotide variant | Reduced protein C activity [RCV002244806]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000368434] | Chr2:127423170 [GRCh38] Chr2:128180746 [GRCh37] Chr2:2q14.3 |
benign|likely benign |
NM_000312.4(PROC):c.1107G>A (p.Pro369=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000369880] | Chr2:127428667 [GRCh38] Chr2:128186243 [GRCh37] Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000312.4(PROC):c.1299C>T (p.Gly433=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000205093]|not provided [RCV001091550] | Chr2:127428859 [GRCh38] Chr2:128186435 [GRCh37] Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000312.4(PROC):c.1237A>G (p.Thr413Ala) | single nucleotide variant | Reduced protein C activity [RCV000851673]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000232324] | Chr2:127428797 [GRCh38] Chr2:128186373 [GRCh37] Chr2:2q14.3 |
likely pathogenic|uncertain significance |
NM_000312.4(PROC):c.286C>T (p.Pro96Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000226072] | Chr2:127423057 [GRCh38] Chr2:128180633 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.91G>A (p.Glu31Lys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000226874] | Chr2:127421303 [GRCh38] Chr2:128178879 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.891C>T (p.Asp297=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000233040] | Chr2:127428451 [GRCh38] Chr2:128186027 [GRCh37] Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000312.4(PROC):c.1065C>T (p.Asn355=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000315159] | Chr2:127428625 [GRCh38] Chr2:128186201 [GRCh37] Chr2:2q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000312.4(PROC):c.66T>C (p.Pro22=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000332512] | Chr2:127420008 [GRCh38] Chr2:128177584 [GRCh37] Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000312.4(PROC):c.666C>G (p.Asp222Glu) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000339693] | Chr2:127426215 [GRCh38] Chr2:128183791 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.-50A>T | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000298504]|not provided [RCV001357527]|not specified [RCV000246100] | Chr2:127418464 [GRCh38] Chr2:128176040 [GRCh37] Chr2:2q14.3 |
benign|likely benign|uncertain significance |
NM_000312.4(PROC):c.423G>T (p.Ser141=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000328858]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV001789244]|not provided [RCV001706294]|not specified [RCV000251026] | Chr2:127423296 [GRCh38] Chr2:128180872 [GRCh37] Chr2:2q14.3 |
benign|likely benign |
NM_000312.4(PROC):c.768T>C (p.Asp256=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000280967]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV001789245]|not provided [RCV001356271]|not specified [RCV000241792] | Chr2:127427194 [GRCh38] Chr2:128184770 [GRCh37] Chr2:2q14.3 |
benign|likely benign|uncertain significance |
NM_000312.4(PROC):c.*146T>C | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000271984] | Chr2:127429092 [GRCh38] Chr2:128186668 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.-33C>T | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000353422] | Chr2:127418481 [GRCh38] Chr2:128176057 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.*170G>T | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000308458] | Chr2:127429116 [GRCh38] Chr2:128186692 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1043G>A (p.Arg348Gln) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000490417] | Chr2:127428603 [GRCh38] Chr2:128186179 [GRCh37] Chr2:2q14.3 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_000312.4(PROC):c.30C>T (p.Phe10=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000526936]|not provided [RCV002225658] | Chr2:127419972 [GRCh38] Chr2:128177548 [GRCh37] Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000312.4(PROC):c.*220G>C | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000363170] | Chr2:127429166 [GRCh38] Chr2:128186742 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1318C>T (p.Arg440Cys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000366599] | Chr2:127428878 [GRCh38] Chr2:128186454 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.602C>T (p.Thr201Ile) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000325296] | Chr2:127426151 [GRCh38] Chr2:128183727 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) | microsatellite | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000288890]|not provided [RCV001310433] | Chr2:127426121..127426123 [GRCh38] Chr2:128183697..128183699 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000312.4(PROC):c.-55C>T | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000396232] | Chr2:127418459 [GRCh38] Chr2:128176035 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.596G>A (p.Arg199Gln) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000551864] | Chr2:127426145 [GRCh38] Chr2:128183721 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.805G>C (p.Asp269His) | single nucleotide variant | not provided [RCV000766107] | Chr2:127428365 [GRCh38] Chr2:128185941 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.352T>C (p.Phe118Leu) | single nucleotide variant | Deep venous thrombosis [RCV000851641]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000541810] | Chr2:127423123 [GRCh38] Chr2:128180699 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.1212dup (p.Pro405fs) | duplication | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000468802] | Chr2:127428766..127428767 [GRCh38] Chr2:128186342..128186343 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645701] | Chr2:127428371 [GRCh38] Chr2:128185947 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.238-1G>A | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645702] | Chr2:127422916 [GRCh38] Chr2:128180492 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.536-6C>T | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645703] | Chr2:127426079 [GRCh38] Chr2:128183655 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.1272G>A (p.Glu424=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134698]|not provided [RCV000645704] | Chr2:127428832 [GRCh38] Chr2:128186408 [GRCh37] Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000312.4(PROC):c.51C>T (p.Ser17=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645705] | Chr2:127419993 [GRCh38] Chr2:128177569 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1212G>A (p.Gly404=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645706] | Chr2:127428772 [GRCh38] Chr2:128186348 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1174G>A (p.Gly392Arg) | single nucleotide variant | not provided [RCV000595447] | Chr2:127428734 [GRCh38] Chr2:128186310 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.799G>A (p.Glu267Lys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000540892] | Chr2:127428359 [GRCh38] Chr2:128185935 [GRCh37] Chr2:2q14.3 |
uncertain significance |
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] | Chr2:104172062..168223828 [GRCh37] Chr2:2q12.1-24.3 |
drug response |
NM_000312.4(PROC):c.340G>T (p.Gly114Cys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000625577] | Chr2:127423111 [GRCh38] Chr2:128180687 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.534A>G (p.Ala178=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645699] | Chr2:127423407 [GRCh38] Chr2:128180983 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.548G>T (p.Cys183Phe) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000645700] | Chr2:127426097 [GRCh38] Chr2:128183673 [GRCh37] Chr2:2q14.3 |
uncertain significance |
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 | copy number loss | See cases [RCV000512348] | Chr2:120571363..141627287 [GRCh37] Chr2:2q14.2-22.1 |
pathogenic |
NM_000312.3(PROC):c.-97_-91delGTTATGG | deletion | not provided [RCV000657991] | Chr2:127418416..127418422 [GRCh38] Chr2:128175992..128175998 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.1213C>T (p.Pro405Ser) | single nucleotide variant | not provided [RCV000677123] | Chr2:127428773 [GRCh38] Chr2:128186349 [GRCh37] Chr2:2q14.3 |
uncertain significance |
Single allele | deletion | not provided [RCV000714264] | Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
NM_000312.4(PROC):c.156C>G (p.His52Gln) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000686566] | Chr2:127421368 [GRCh38] Chr2:128178944 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1019C>T (p.Thr340Met) | single nucleotide variant | Reduced protein C activity [RCV002245610]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000702555] | Chr2:127428579 [GRCh38] Chr2:128186155 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic|uncertain significance |
NM_000312.4(PROC):c.388T>C (p.Phe130Leu) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000688378] | Chr2:127423159 [GRCh38] Chr2:128180735 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.970G>A (p.Gly324Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000689216] | Chr2:127428530 [GRCh38] Chr2:128186106 [GRCh37] Chr2:2q14.3 |
likely pathogenic|uncertain significance |
NM_000312.4(PROC):c.1242G>A (p.Trp414Ter) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000702225] | Chr2:127428802 [GRCh38] Chr2:128186378 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.962C>T (p.Pro321Leu) | single nucleotide variant | Deep venous thrombosis [RCV000851918]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV000689154] | Chr2:127428522 [GRCh38] Chr2:128186098 [GRCh37] Chr2:2q14.3 |
likely pathogenic|uncertain significance |
NM_000312.4(PROC):c.1368del (p.Lys457fs) | deletion | Reduced protein C activity [RCV000851689] | Chr2:127428928 [GRCh38] Chr2:128186504 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.1163C>T (p.Ala388Val) | single nucleotide variant | Reduced protein C activity [RCV000852001]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV002221155]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV000984956] | Chr2:127428723 [GRCh38] Chr2:128186299 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.524G>A (p.Cys175Tyr) | single nucleotide variant | Reduced protein C activity [RCV000852149] | Chr2:127423397 [GRCh38] Chr2:128180973 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_000312.4(PROC):c.1166G>C (p.Gly389Ala) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000761311] | Chr2:127428726 [GRCh38] Chr2:128186302 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.199G>A (p.Glu67Lys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000761310] | Chr2:127421411 [GRCh38] Chr2:128178987 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.1111A>G (p.Asn371Asp) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000865274] | Chr2:127428671 [GRCh38] Chr2:128186247 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.969C>T (p.Ser323=) | single nucleotide variant | not provided [RCV000869082] | Chr2:127428529 [GRCh38] Chr2:128186105 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1326C>T (p.Leu442=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000877532] | Chr2:127428886 [GRCh38] Chr2:128186462 [GRCh37] Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_000312.4(PROC):c.238-2A>G | single nucleotide variant | Thromboembolism [RCV000851746] | Chr2:127422915 [GRCh38] Chr2:128180491 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.440G>A (p.Cys147Tyr) | single nucleotide variant | Reduced protein C activity [RCV000851793] | Chr2:127423313 [GRCh38] Chr2:128180889 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.673T>G (p.Trp225Gly) | single nucleotide variant | Deep venous thrombosis [RCV000851848] | Chr2:127426222 [GRCh38] Chr2:128183798 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.263-4G>A | single nucleotide variant | Reduced protein C activity [RCV002245714]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV001416063]|not provided [RCV000862891] | Chr2:127423030 [GRCh38] Chr2:128180606 [GRCh37] Chr2:2q14.3 |
likely benign|uncertain significance |
NM_000312.4(PROC):c.900C>T (p.Ile300=) | single nucleotide variant | not provided [RCV000865927] | Chr2:127428460 [GRCh38] Chr2:128186036 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.300G>A (p.Pro100=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001488987]|not provided [RCV000978830] | Chr2:127423071 [GRCh38] Chr2:128180647 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.924C>T (p.Pro308=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000861331] | Chr2:127428484 [GRCh38] Chr2:128186060 [GRCh37] Chr2:2q14.3 |
benign|likely benign |
NM_000312.4(PROC):c.400+1G>A | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000818570] | Chr2:127423172 [GRCh38] Chr2:128180748 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.889G>C (p.Asp297His) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000821496] | Chr2:127428449 [GRCh38] Chr2:128186025 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.723G>T (p.Val241=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001132308] | Chr2:127427149 [GRCh38] Chr2:128184725 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.-54G>A | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134594] | Chr2:127418460 [GRCh38] Chr2:128176036 [GRCh37] Chr2:2q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000312.4(PROC):c.70+13C>G | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134595] | Chr2:127420025 [GRCh38] Chr2:128177601 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1019C>A (p.Thr340Lys) | single nucleotide variant | Reduced protein C activity [RCV000851961] | Chr2:127428579 [GRCh38] Chr2:128186155 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.386G>A (p.Arg129His) | single nucleotide variant | Deep venous thrombosis [RCV000851987]|Deep venous thrombosis [RCV000851988]|not provided [RCV001357357] | Chr2:127423157 [GRCh38] Chr2:128180733 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.325G>T (p.Gly109Cys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV000824240] | Chr2:127423096 [GRCh38] Chr2:128180672 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.462G>A (p.Glu154=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001434853]|not provided [RCV000860624] | Chr2:127423335 [GRCh38] Chr2:128180911 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1296C>T (p.Tyr432=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001486557]|not provided [RCV000863010] | Chr2:127428856 [GRCh38] Chr2:128186432 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1248G>T (p.Leu416=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134697] | Chr2:127428808 [GRCh38] Chr2:128186384 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.*81T>C | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134700] | Chr2:127429027 [GRCh38] Chr2:128186603 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.660G>A (p.Arg220=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001132307] | Chr2:127426209 [GRCh38] Chr2:128183785 [GRCh37] Chr2:2q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000312.4(PROC):c.730C>T (p.His244Tyr) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001208790]|not provided [RCV000997202] | Chr2:127427156 [GRCh38] Chr2:128184732 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.566G>A (p.Arg189Gln) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001129573] | Chr2:127426115 [GRCh38] Chr2:128183691 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1331G>A (p.Trp444Ter) | single nucleotide variant | Reduced protein C activity [RCV000851681] | Chr2:127428891 [GRCh38] Chr2:128186467 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.1378_1379dup (p.Pro461fs) | duplication | Reduced protein C activity [RCV000851692] | Chr2:127428937..127428938 [GRCh38] Chr2:128186513..128186514 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.1155G>A (p.Met385Ile) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001202927] | Chr2:127428715 [GRCh38] Chr2:128186291 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.982C>T (p.Arg328Cys) | single nucleotide variant | Reduced protein C activity [RCV000851922]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV001869073] | Chr2:127428542 [GRCh38] Chr2:128186118 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.206C>T (p.Ala69Val) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001238309] | Chr2:127421418 [GRCh38] Chr2:128178994 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.678G>A (p.Gln226=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001219262] | Chr2:127426227 [GRCh38] Chr2:128183803 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.571G>C (p.Glu191Gln) | single nucleotide variant | Deep venous thrombosis [RCV000851828] | Chr2:127426120 [GRCh38] Chr2:128183696 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.797-2A>T | single nucleotide variant | Reduced protein C activity [RCV000851888] | Chr2:127428355 [GRCh38] Chr2:128185931 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.1313T>C (p.Val438Ala) | single nucleotide variant | Reduced protein C activity [RCV000852016] | Chr2:127428873 [GRCh38] Chr2:128186449 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.532G>C (p.Ala178Pro) | single nucleotide variant | Reduced protein C activity [RCV000852153] | Chr2:127423405 [GRCh38] Chr2:128180981 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.715G>A (p.Gly239Arg) | single nucleotide variant | Deep venous thrombosis [RCV000852197] | Chr2:127427141 [GRCh38] Chr2:128184717 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.819G>T (p.Trp273Cys) | single nucleotide variant | Reduced protein C activity [RCV000852231] | Chr2:127428379 [GRCh38] Chr2:128185955 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.908T>G (p.Leu303Arg) | single nucleotide variant | Reduced protein C activity [RCV000852242] | Chr2:127428468 [GRCh38] Chr2:128186044 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.752C>T (p.Ala251Val) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal recessive [RCV000999470] | Chr2:127427178 [GRCh38] Chr2:128184754 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.76G>A (p.Val26Met) | single nucleotide variant | Reduced protein C activity [RCV000851876] | Chr2:127421288 [GRCh38] Chr2:128178864 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.421T>C (p.Ser141Pro) | single nucleotide variant | Reduced protein C activity [RCV000852122] | Chr2:127423294 [GRCh38] Chr2:128180870 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.888C>T (p.Thr296=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001133238] | Chr2:127428448 [GRCh38] Chr2:128186024 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.785T>C (p.Leu262Pro) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001132309] | Chr2:127427211 [GRCh38] Chr2:128184787 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.797-345T>G | single nucleotide variant | not provided [RCV001645125] | Chr2:127428012 [GRCh38] Chr2:128185588 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.238-272A>G | single nucleotide variant | not provided [RCV001654079] | Chr2:127422645 [GRCh38] Chr2:128180221 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.60A>G (p.Pro20=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001441158]|not provided [RCV000862322] | Chr2:127420002 [GRCh38] Chr2:128177578 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.113G>A (p.Arg38Gln) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal recessive [RCV000984471] | Chr2:127421325 [GRCh38] Chr2:128178901 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.936G>A (p.Ser312=) | single nucleotide variant | not provided [RCV000931333] | Chr2:127428496 [GRCh38] Chr2:128186072 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.400+6G>T | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001129572]|not provided [RCV000861091] | Chr2:127423177 [GRCh38] Chr2:128180753 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.862C>T (p.His288Tyr) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001248804] | Chr2:127428422 [GRCh38] Chr2:128185998 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.740G>A (p.Trp247Ter) | single nucleotide variant | not provided [RCV001090273] | Chr2:127427166 [GRCh38] Chr2:128184742 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.*72C>A | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001134699] | Chr2:127429018 [GRCh38] Chr2:128186594 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.468C>T (p.Gly156=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001446191]|not provided [RCV000934872] | Chr2:127423341 [GRCh38] Chr2:128180917 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.237+301G>A | single nucleotide variant | not provided [RCV001660836] | Chr2:127421750 [GRCh38] Chr2:128179326 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.642T>C (p.Asp214=) | single nucleotide variant | not provided [RCV001532405] | Chr2:127426191 [GRCh38] Chr2:128183767 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.797-245T>C | single nucleotide variant | not provided [RCV001657045] | Chr2:127428112 [GRCh38] Chr2:128185688 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.535+44A>G | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001789493]|Thrombophilia due to protein C deficiency, autosomal recessive [RCV001789494]|not provided [RCV001659625] | Chr2:127423452 [GRCh38] Chr2:128181028 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.-21-121C>T | single nucleotide variant | not provided [RCV001595420] | Chr2:127419801 [GRCh38] Chr2:128177377 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.945A>G (p.Ile315Met) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001071097] | Chr2:127428505 [GRCh38] Chr2:128186081 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.282C>T (p.Val94=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001129571] | Chr2:127423053 [GRCh38] Chr2:128180629 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.697AAG[2] (p.Lys235del) | microsatellite | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001049740] | Chr2:127427123..127427125 [GRCh38] Chr2:128184699..128184701 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.*152T>C | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001129692] | Chr2:127429098 [GRCh38] Chr2:128186674 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.*176T>C | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001129693] | Chr2:127429122 [GRCh38] Chr2:128186698 [GRCh37] Chr2:2q14.3 |
uncertain significance |
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1 | copy number loss | See cases [RCV001194541] | Chr2:122952356..133826358 [GRCh37] Chr2:2q14.3-21.2 |
likely pathogenic |
NM_000312.4(PROC):c.678+111G>T | single nucleotide variant | not provided [RCV001611563] | Chr2:127426338 [GRCh38] Chr2:128183914 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.536-214A>G | single nucleotide variant | not provided [RCV001680214] | Chr2:127425871 [GRCh38] Chr2:128183447 [GRCh37] Chr2:2q14.3 |
benign |
Single allele | deletion | See cases [RCV001568390] | Chr2:124348648..129410245 [GRCh38] Chr2:2q14.3-21.1 |
not provided |
NM_000312.4(PROC):c.916G>T (p.Ala306Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001208438] | Chr2:127428476 [GRCh38] Chr2:128186052 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.245T>C (p.Phe82Ser) | single nucleotide variant | Hereditary angioedema with normal C1Inh [RCV001027424] | Chr2:127422924 [GRCh38] Chr2:128180500 [GRCh37] Chr2:2q14.3 |
not provided |
NM_000312.4(PROC):c.41G>A (p.Trp14Ter) | single nucleotide variant | Reduced protein C activity [RCV002245902]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV001248247] | Chr2:127419983 [GRCh38] Chr2:128177559 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.1333A>C (p.Ile445Leu) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001219261] | Chr2:127428893 [GRCh38] Chr2:128186469 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1241G>C (p.Trp414Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001133239] | Chr2:127428801 [GRCh38] Chr2:128186377 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NC_000002.12:g.127418364_127418365del | deletion | not provided [RCV001027532] | Chr2:127418363..127418364 [GRCh38] Chr2:128175939..128175940 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.124C>T (p.Arg42Cys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001379312]|not provided [RCV001200134] | Chr2:127421336 [GRCh38] Chr2:128178912 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic |
NM_000312.4(PROC):c.595C>T (p.Arg199Ter) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001040855]|not provided [RCV001200135] | Chr2:127426144 [GRCh38] Chr2:128183720 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.326_330dup (p.Cys111fs) | microsatellite | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001039540] | Chr2:127423090..127423091 [GRCh38] Chr2:128180666..128180667 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.1074C>A (p.Phe358Leu) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001063824] | Chr2:127428634 [GRCh38] Chr2:128186210 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del) | deletion | Inborn genetic diseases [RCV001266004]|Thrombophilia due to protein C deficiency, autosomal dominant [RCV001880107] | Chr2:127423125..127423142 [GRCh38] Chr2:128180701..128180718 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.632G>T (p.Arg211Leu) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001343833] | Chr2:127426181 [GRCh38] Chr2:128183757 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.400+5G>C | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001270878] | Chr2:127423176 [GRCh38] Chr2:128180752 [GRCh37] Chr2:2q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000312.4(PROC):c.299C>G (p.Pro100Arg) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001296017] | Chr2:127423070 [GRCh38] Chr2:128180646 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.118C>T (p.Arg40Cys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001347080] | Chr2:127421330 [GRCh38] Chr2:128178906 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.718G>A (p.Ala240Thr) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001353250] | Chr2:127427144 [GRCh38] Chr2:128184720 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.632G>A (p.Arg211Gln) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001353251] | Chr2:127426181 [GRCh38] Chr2:128183757 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.1110C>A (p.His370Gln) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001307199] | Chr2:127428670 [GRCh38] Chr2:128186246 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1120A>G (p.Ser374Gly) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001323593] | Chr2:127428680 [GRCh38] Chr2:128186256 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.479G>C (p.Cys160Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001353253] | Chr2:127423352 [GRCh38] Chr2:128180928 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.205G>A (p.Ala69Thr) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001366397] | Chr2:127421417 [GRCh38] Chr2:128178993 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.132C>T (p.Asn44=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001412749] | Chr2:127421344 [GRCh38] Chr2:128178920 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.400+2T>C | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001353252] | Chr2:127423173 [GRCh38] Chr2:128180749 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.400G>T (p.Glu134Ter) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001387152] | Chr2:127423171 [GRCh38] Chr2:128180747 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.876C>G (p.Ser292Arg) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001491012] | Chr2:127428436 [GRCh38] Chr2:128186012 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.400+9dup | duplication | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001521279] | Chr2:127423175..127423176 [GRCh38] Chr2:128180751..128180752 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.1233C>T (p.His411=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001491798] | Chr2:127428793 [GRCh38] Chr2:128186369 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1338T>C (p.His446=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001401939] | Chr2:127428898 [GRCh38] Chr2:128186474 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001378201]|not provided [RCV001509161] | Chr2:127428666 [GRCh38] Chr2:128186242 [GRCh37] Chr2:2q14.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000312.4(PROC):c.702G>A (p.Lys234=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001411052] | Chr2:127427128 [GRCh38] Chr2:128184704 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.70+7C>G | single nucleotide variant | not provided [RCV001509160] | Chr2:127420019 [GRCh38] Chr2:128177595 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.536-316G>C | single nucleotide variant | not provided [RCV001654842] | Chr2:127425769 [GRCh38] Chr2:128183345 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.780G>A (p.Lys260=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001504654] | Chr2:127427206 [GRCh38] Chr2:128184782 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.139C>T (p.Leu47=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001485838] | Chr2:127421351 [GRCh38] Chr2:128178927 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.810G>C (p.Leu270=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001451056]|not specified [RCV001823773] | Chr2:127428370 [GRCh38] Chr2:128185946 [GRCh37] Chr2:2q14.3 |
likely benign |
NC_000002.11:g.128175862C>T | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001509734] | Chr2:127418286 [GRCh38] Chr2:128175862 [GRCh37] Chr2:2q14.3 |
benign |
NC_000002.11:g.128175875G>A | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001509735] | Chr2:127418299 [GRCh38] Chr2:128175875 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.528C>T (p.His176=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001486089] | Chr2:127423401 [GRCh38] Chr2:128180977 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.39C>T (p.Thr13=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001406857] | Chr2:127419981 [GRCh38] Chr2:128177557 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.561G>A (p.Trp187Ter) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001380376] | Chr2:127426110 [GRCh38] Chr2:128183686 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.520C>T (p.Gln174Ter) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001387153] | Chr2:127423393 [GRCh38] Chr2:128180969 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.1099G>A (p.Val367Met) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001378884] | Chr2:127428659 [GRCh38] Chr2:128186235 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.852G>A (p.Glu284=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001430246] | Chr2:127428412 [GRCh38] Chr2:128185988 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1077C>G (p.Val359=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001424471] | Chr2:127428637 [GRCh38] Chr2:128186213 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.112C>T (p.Arg38Trp) | single nucleotide variant | not provided [RCV001727153] | Chr2:127421324 [GRCh38] Chr2:128178900 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1267G>A (p.Gly423Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001731126] | Chr2:127428827 [GRCh38] Chr2:128186403 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.752C>A (p.Ala251Glu) | single nucleotide variant | Reduced protein C activity [RCV002245354] | Chr2:127427178 [GRCh38] Chr2:128184754 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.508G>T (p.Asp170Tyr) | single nucleotide variant | Reduced protein C activity [RCV002245356] | Chr2:127423381 [GRCh38] Chr2:128180957 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.673T>C (p.Trp225Arg) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001801306] | Chr2:127426222 [GRCh38] Chr2:128183798 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.433G>A (p.Gly145Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001801313] | Chr2:127423306 [GRCh38] Chr2:128180882 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.1154T>C (p.Met385Thr) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001801314] | Chr2:127428714 [GRCh38] Chr2:128186290 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.983G>A (p.Arg328His) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001801320] | Chr2:127428543 [GRCh38] Chr2:128186119 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.713G>C (p.Cys238Ser) | single nucleotide variant | not provided [RCV001756685] | Chr2:127427139 [GRCh38] Chr2:128184715 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.127G>A (p.Ala43Thr) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001801321] | Chr2:127421339 [GRCh38] Chr2:128178915 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.329C>G (p.Thr110Arg) | single nucleotide variant | not provided [RCV001756681] | Chr2:127423100 [GRCh38] Chr2:128180676 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1066C>T (p.Arg356Cys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001987798] | Chr2:127428626 [GRCh38] Chr2:128186202 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.419G>C (p.Cys140Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002025191] | Chr2:127423292 [GRCh38] Chr2:128180868 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.677A>G (p.Gln226Arg) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001929009] | Chr2:127426226 [GRCh38] Chr2:128183802 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.31G>A (p.Val11Met) | single nucleotide variant | not specified [RCV001823818] | Chr2:127419973 [GRCh38] Chr2:128177549 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1195G>A (p.Glu399Lys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001909695] | Chr2:127428755 [GRCh38] Chr2:128186331 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1297G>A (p.Gly433Ser) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001909209] | Chr2:127428857 [GRCh38] Chr2:128186433 [GRCh37] Chr2:2q14.3 |
uncertain significance |
GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3 | copy number gain | not provided [RCV001832896] | Chr2:111484468..146333604 [GRCh37] Chr2:2q13-22.3 |
pathogenic |
GRCh37/hg19 2q14.3(chr2:128024782-129332242) | copy number gain | not specified [RCV002053228] | Chr2:128024782..129332242 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.541T>G (p.Phe181Val) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001927369] | Chr2:127426090 [GRCh38] Chr2:128183666 [GRCh37] Chr2:2q14.3 |
pathogenic |
NC_000002.11:g.(?_127806102)_(128432598_?)del | deletion | Autosomal recessive limb-girdle muscular dystrophy type 2W [RCV001928002]|Myopathy, centronuclear, 2 [RCV001916346] | Chr2:127806102..128432598 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.675G>A (p.Trp225Ter) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001914156] | Chr2:127426224 [GRCh38] Chr2:128183800 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.1218G>A (p.Met406Ile) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001946007] | Chr2:127428778 [GRCh38] Chr2:128186354 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.263-28T>G | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001909626] | Chr2:127423006 [GRCh38] Chr2:128180582 [GRCh37] Chr2:2q14.3 |
uncertain significance |
GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1 | copy number loss | not provided [RCV001832883] | Chr2:122699106..143799629 [GRCh37] Chr2:2q14.3-22.2 |
pathogenic |
NM_000312.4(PROC):c.303C>A (p.Cys101Ter) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001942304] | Chr2:127423074 [GRCh38] Chr2:128180650 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.445dup (p.His149fs) | duplication | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001898011] | Chr2:127423317..127423318 [GRCh38] Chr2:128180893..128180894 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.881G>A (p.Ser294Asn) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001995748] | Chr2:127428441 [GRCh38] Chr2:128186017 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1266G>A (p.Trp422Ter) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001920132] | Chr2:127428826 [GRCh38] Chr2:128186402 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1305del (p.Val434_Tyr435insTer) | deletion | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001880844] | Chr2:127428865 [GRCh38] Chr2:128186441 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.372C>G (p.Ser124Arg) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001940604] | Chr2:127423143 [GRCh38] Chr2:128180719 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1000G>T (p.Gly334Cys) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV001866931] | Chr2:127428560 [GRCh38] Chr2:128186136 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.489G>A (p.Ala163=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002168595] | Chr2:127423362 [GRCh38] Chr2:128180938 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.262+1G>A | single nucleotide variant | not provided [RCV002224698] | Chr2:127422942 [GRCh38] Chr2:128180518 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3 | copy number gain | 2q13q22.3 microduplication syndrome [RCV002226436] | Chr2:112475655..145691999 [GRCh37] Chr2:2q13-22.3 |
pathogenic |
NM_000312.4(PROC):c.714C>T (p.Cys238=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002089324] | Chr2:127427140 [GRCh38] Chr2:128184716 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.541T>C (p.Phe181Leu) | single nucleotide variant | not provided [RCV002223411] | Chr2:127426090 [GRCh38] Chr2:128183666 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1122C>T (p.Ser374=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002093342] | Chr2:127428682 [GRCh38] Chr2:128186258 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1080C>G (p.Leu360=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002151498] | Chr2:127428640 [GRCh38] Chr2:128186216 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.837C>T (p.Asp279=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002079758] | Chr2:127428397 [GRCh38] Chr2:128185973 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.797-4G>A | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002108800] | Chr2:127428353 [GRCh38] Chr2:128185929 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.848AGG[1] (p.Glu284del) | microsatellite | Reduced protein C activity [RCV002245352] | Chr2:127428408..127428410 [GRCh38] Chr2:128185984..128185986 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.1230C>T (p.Phe410=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002154820] | Chr2:127428790 [GRCh38] Chr2:128186366 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.535+13dup | duplication | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002199500] | Chr2:127423416..127423417 [GRCh38] Chr2:128180992..128180993 [GRCh37] Chr2:2q14.3 |
benign |
NM_000312.4(PROC):c.1084T>A (p.Phe362Ile) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002223118] | Chr2:127428644 [GRCh38] Chr2:128186220 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.535+9C>T | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002121928] | Chr2:127423417 [GRCh38] Chr2:128180993 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.151C>T (p.Arg51Cys) | single nucleotide variant | not provided [RCV002222311] | Chr2:127421363 [GRCh38] Chr2:128178939 [GRCh37] Chr2:2q14.3 |
pathogenic |
NM_000312.4(PROC):c.1293del (p.Tyr432fs) | deletion | not provided [RCV002222313] | Chr2:127428853 [GRCh38] Chr2:128186429 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002221176]|not specified [RCV002246694] | Chr2:127427129 [GRCh38] Chr2:128184705 [GRCh37] Chr2:2q14.3 |
likely pathogenic|uncertain significance |
NM_000312.4(PROC):c.638T>C (p.Ile213Thr) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002221177] | Chr2:127426187 [GRCh38] Chr2:128183763 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.547T>C (p.Cys183Arg) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002221178] | Chr2:127426096 [GRCh38] Chr2:128183672 [GRCh37] Chr2:2q14.3 |
uncertain significance |
NM_000312.4(PROC):c.472C>T (p.Arg158Trp) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002221179] | Chr2:127423345 [GRCh38] Chr2:128180921 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.735C>G (p.Pro245=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002181382] | Chr2:127427161 [GRCh38] Chr2:128184737 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.1164G>A (p.Ala388=) | single nucleotide variant | Thrombophilia due to protein C deficiency, autosomal dominant [RCV002201245] | Chr2:127428724 [GRCh38] Chr2:128186300 [GRCh37] Chr2:2q14.3 |
likely benign |
NM_000312.4(PROC):c.759C>A (p.His253Gln) | single nucleotide variant | Reduced protein C activity [RCV002245353] | Chr2:127427185 [GRCh38] Chr2:128184761 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
NM_000312.4(PROC):c.659G>C (p.Arg220Pro) | single nucleotide variant | Reduced protein C activity [RCV002245355] | Chr2:127426208 [GRCh38] Chr2:128183784 [GRCh37] Chr2:2q14.3 |
likely pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:9451 | AgrOrtholog |
COSMIC | PROC | COSMIC |
Ensembl Genes | ENSG00000115718 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSP00000234071 | ENTREZGENE |
ENSP00000234071.4 | UniProtKB/Swiss-Prot | |
ENSP00000384225.2 | UniProtKB/TrEMBL | |
ENSP00000386679 | ENTREZGENE | |
ENSP00000386679.1 | UniProtKB/TrEMBL | |
ENSP00000391220.1 | UniProtKB/TrEMBL | |
ENSP00000392606.1 | UniProtKB/TrEMBL | |
ENSP00000406295.1 | UniProtKB/TrEMBL | |
ENSP00000411241.1 | UniProtKB/TrEMBL | |
ENSP00000412697.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000234071 | ENTREZGENE |
ENST00000234071.8 | UniProtKB/Swiss-Prot | |
ENST00000402125.2 | UniProtKB/TrEMBL | |
ENST00000409048 | ENTREZGENE | |
ENST00000409048.1 | UniProtKB/TrEMBL | |
ENST00000419985.5 | UniProtKB/TrEMBL | |
ENST00000427769.5 | UniProtKB/TrEMBL | |
ENST00000429925.5 | UniProtKB/TrEMBL | |
ENST00000431364.1 | UniProtKB/TrEMBL | |
ENST00000442644.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.40.10.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
4.10.740.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000115718 | GTEx |
HGNC ID | HGNC:9451 | ENTREZGENE |
Human Proteome Map | PROC | Human Proteome Map |
InterPro | Coagulation_fac-like_Gla_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EGF-like_Ca-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EGF-like_CS | UniProtKB/TrEMBL | |
EGF-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EGF-type_Asp/Asn_hydroxyl_site | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EGF_Ca-bd_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GLA-like_dom_SF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GLA_domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pept_S1A_FX | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peptidase_S1_PA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peptidase_S1_PA_chymotrypsin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peptidase_S1A | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Trypsin_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TRYPSIN_HIS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TRYPSIN_SER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:5624 | UniProtKB/Swiss-Prot |
NCBI Gene | 5624 | ENTREZGENE |
OMIM | 176860 | OMIM |
612283 | OMIM | |
612304 | OMIM | |
Pfam | EGF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Gla | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
hEGF | UniProtKB/TrEMBL | |
Trypsin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA33799 | PharmGKB, RGD |
PIRSF | Factor_X | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PRINTS | CHYMOTRYPSIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GLABLOOD | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | ASX_HYDROXYL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EGF_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EGF_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EGF_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EGF_CA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GLA_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GLA_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TRYPSIN_DOM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TRYPSIN_HIS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TRYPSIN_SER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | EGF | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
EGF_CA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GLA | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Tryp_SPc | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | SSF50494 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF57630 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A0S3LTK9_HUMAN | UniProtKB/TrEMBL |
E7END6_HUMAN | UniProtKB/TrEMBL | |
E7ENR9_HUMAN | UniProtKB/TrEMBL | |
E7EU72_HUMAN | UniProtKB/TrEMBL | |
E7EVH6_HUMAN | UniProtKB/TrEMBL | |
F2Z2A0_HUMAN | UniProtKB/TrEMBL | |
H7BYX9_HUMAN | UniProtKB/TrEMBL | |
I7BL31_HUMAN | UniProtKB/TrEMBL | |
P04070 | ENTREZGENE, UniProtKB/Swiss-Prot | |
Q8J002_HUMAN | UniProtKB/TrEMBL | |
Q8J003_HUMAN | UniProtKB/TrEMBL | |
Q8J004_HUMAN | UniProtKB/TrEMBL | |
Q8J005_HUMAN | UniProtKB/TrEMBL | |
Q8J006_HUMAN | UniProtKB/TrEMBL | |
Q8J007_HUMAN | UniProtKB/TrEMBL | |
Q8J008_HUMAN | UniProtKB/TrEMBL | |
Q8J009_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | B4DPQ7 | UniProtKB/Swiss-Prot |
Q15189 | UniProtKB/Swiss-Prot | |
Q15190 | UniProtKB/Swiss-Prot | |
Q16001 | UniProtKB/Swiss-Prot | |
Q53S74 | UniProtKB/Swiss-Prot | |
Q9UC55 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-11-24 | PROC | protein C, inactivator of coagulation factors Va and VIIIa | protein C (inactivator of coagulation factors Va and VIIIa) | Symbol and/or name change | 5135510 | APPROVED |