PCSK1 (proprotein convertase subtilisin/kexin type 1) - Rat Genome Database

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Gene: PCSK1 (proprotein convertase subtilisin/kexin type 1) Homo sapiens
Analyze
Symbol: PCSK1
Name: proprotein convertase subtilisin/kexin type 1
RGD ID: 734345
HGNC Page HGNC:8743
Description: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in peptide biosynthetic process and peptide hormone processing. Located in extracellular space. Implicated in obesity and proprotein convertase 1/3 deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BMIQ12; NEC 1; NEC1; neuroendocrine convertase 1; PC1; PC1/3; PC3; prohormone convertase 1; prohormone convertase 3; proprotein convertase 1/3; SPC3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BW90_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38596,390,333 - 96,433,248 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl596,390,333 - 96,434,143 (-)EnsemblGRCh38hg38GRCh38
GRCh37595,726,037 - 95,768,952 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36595,751,875 - 95,794,708 (-)NCBINCBI36Build 36hg18NCBI36
Build 34595,751,874 - 95,794,708NCBI
Celera591,608,060 - 91,651,008 (-)NCBICelera
Cytogenetic Map5q15NCBI
HuRef590,916,038 - 90,958,959 (-)NCBIHuRef
CHM1_1595,158,671 - 95,201,600 (-)NCBICHM1_1
T2T-CHM13v2.0596,891,318 - 96,934,221 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5-triiodo-L-thyronine  (EXP)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
cisplatin  (ISO)
clothianidin  (EXP)
cocaine  (ISO)
Cuprizon  (ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gatifloxacin  (EXP)
glycidol  (ISO)
glyphosate  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
N,N-diethyl-m-toluamide  (ISO)
nickel atom  (EXP)
p-chloromercuribenzoic acid  (EXP)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
resveratrol  (ISO)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
SCH 23390  (ISO)
silicon dioxide  (EXP)
Soman  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
temozolomide  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Increased secretory demand rather than a defect in the proinsulin conversion mechanism causes hyperproinsulinemia in a glucose-infusion rat model of non-insulin-dependent diabetes mellitus. Alarcon C, etal., J Clin Invest. 1995 Mar;95(3):1032-9.
2. Cellular colocalization and coregulation between hypothalamic pro-TRH and prohormone convertases in hypothyroidism. Espinosa VP, etal., Am J Physiol Endocrinol Metab. 2007 Jan;292(1):E175-86. Epub 2006 Aug 22.
3. Adult rat liver cells transdifferentiated with lentiviral IPF1 vectors reverse diabetes in mice: an ex vivo gene therapy approach. Fodor A, etal., Diabetologia. 2007 Jan;50(1):121-30. Epub 2006 Nov 28.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Proinsulin processing in the diabetic Goto-Kakizaki rat. Guest PC, etal., J Endocrinol. 2002 Dec;175(3):637-47.
6. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Jackson RS, etal., Nat Genet. 1997 Jul;16(3):303-6.
7. Lipopolysaccharide mediated regulation of neuroendocrine associated proprotein convertases and neuropeptide precursor processing in the rat spleen. Lansac G, etal., J Neuroimmunol. 2006 Feb;171(1-2):57-71. Epub 2005 Dec 5.
8. The identification of potential factors associated with the development of type 2 diabetes: a quantitative proteomics approach. Lu H, etal., Mol Cell Proteomics. 2008 Aug;7(8):1434-51. Epub 2008 Apr 30.
9. Developmental expression of the prohormone convertases PC1 and PC2 in mouse pancreatic islets. Marcinkiewicz M, etal., Endocrinology. 1994 Oct;135(4):1651-60.
10. Pilocarpine-induced seizures are accompanied by a transient elevation in the messenger RNA expression of the prohormone convertase PC1 in rat hippocampus: comparison with nerve growth factor and brain-derived neurotrophic factor expression. Marcinkiewicz M, etal., Neuroscience. 1997 Jan;76(2):425-39.
11. Subcellular pathways of beta-endorphin synthesis, processing, and release from immunocytes in inflammatory pain. Mousa SA, etal., Endocrinology. 2004 Mar;145(3):1331-41. Epub 2003 Nov 20.
12. Up-regulation of splenic prohormone convertases PC1 and PC2 in diabetic rats. Nakashima M, etal., Regul Pept. 2001 Dec 15;102(2-3):135-45.
13. Precursor-protein convertase 1 gene expression in the mouse hypothalamus: differential regulation by ob gene mutation, energy deficit and administration of leptin, and coexpression with prepro-orexin. Nilaweera KN, etal., Neuroscience. 2003;119(3):713-20.
14. Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM. Ohagi S, etal., Diabetes. 1996 Jul;45(7):897-901.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. How the hindgut can cure type 2 diabetes. Ileal transposition improves glucose metabolism and beta-cell function in Goto-kakizaki rats through an enhanced Proglucagon gene expression and L-cell number. Patriti A, etal., Surgery. 2007 Jul;142(1):74-85.
17. Thyroid hormones selectively regulate the posttranslational processing of prothyrotropin-releasing hormone in the paraventricular nucleus of the hypothalamus. Perello M, etal., Endocrinology. 2006 Jun;147(6):2705-16. Epub 2006 Feb 23.
18. Pro-opiomelanocortin processing in the hypothalamus: impact on melanocortin signalling and obesity. Pritchard LE, etal., J Endocrinol 2002 Mar;172(3):411-21.
19. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
21. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22. Altered control of the hypothalamo-pituitary-adrenal axis in adult male rats exposed perinatally to food deprivation and/or dehydration. Sebaai N, etal., Neuroendocrinology. 2002 Oct;76(4):243-53.
23. The critical role of the melanocortin system in the control of energy balance. Seeley RJ, etal., Annu Rev Nutr 2004;24:133-49.
24. Thyroid hormone regulation of prohormone convertase 1 (PC1): regional expression in rat brain and in vitro characterization of negative thyroid hormone response elements. Shen X, etal., J Mol Endocrinol. 2004 Aug;33(1):21-33.
25. Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3). Wen JH, etal., Diabetologia. 2009 Mar;52(3):504-13. Epub 2008 Nov 26.
26. A switch from prohormone convertase (PC)-2 to PC1/3 expression in transplanted alpha-cells is accompanied by differential processing of proglucagon and improved glucose homeostasis in mice. Wideman RD, etal., Diabetes. 2007 Nov;56(11):2744-52. Epub 2007 Aug 13.
27. Transplantation of PC1/3-Expressing alpha-cells improves glucose handling and cold tolerance in leptin-resistant mice. Wideman RD, etal., Mol Ther. 2009 Jan;17(1):191-8. Epub 2008 Oct 21.
28. Improving function and survival of pancreatic islets by endogenous production of glucagon-like peptide 1 (GLP-1). Wideman RD, etal., Proc Natl Acad Sci U S A. 2006 Sep 5;103(36):13468-73. Epub 2006 Aug 28.
29. Disruption of PC1/3 expression in mice causes dwarfism and multiple neuroendocrine peptide processing defects. Zhu X, etal., Proc Natl Acad Sci U S A 2002 Aug 6;99(16):10293-8. Epub 2002 Jul 26.
Additional References at PubMed
PMID:1547893   PMID:1597471   PMID:1605851   PMID:1765368   PMID:3053705   PMID:4368999   PMID:7639757   PMID:7797529   PMID:7836407   PMID:8163529   PMID:8397508   PMID:8916141  
PMID:8940009   PMID:8995623   PMID:9213372   PMID:9521468   PMID:10037747   PMID:10087454   PMID:10391209   PMID:10409610   PMID:10530621   PMID:10771309   PMID:11435430   PMID:11720250  
PMID:11739459   PMID:12126783   PMID:12147786   PMID:12147787   PMID:12477932   PMID:12715715   PMID:14574455   PMID:14614908   PMID:14617756   PMID:15126519   PMID:15127203   PMID:15807527  
PMID:16293189   PMID:16344560   PMID:16644867   PMID:16928730   PMID:17595246   PMID:17917309   PMID:17990211   PMID:18096669   PMID:18343183   PMID:18549351   PMID:18604207   PMID:19164386  
PMID:19339735   PMID:19528091   PMID:19628676   PMID:19641380   PMID:19875984   PMID:19876004   PMID:19913121   PMID:20106974   PMID:20498726   PMID:20534142   PMID:20571754   PMID:20628086  
PMID:20734064   PMID:21030982   PMID:21720444   PMID:21805236   PMID:21805237   PMID:21873549   PMID:21873635   PMID:21935364   PMID:22000902   PMID:22210313   PMID:22344219   PMID:22552345  
PMID:22581228   PMID:22592666   PMID:22679642   PMID:22737226   PMID:23121087   PMID:23314902   PMID:23383060   PMID:23451278   PMID:23775089   PMID:23800642   PMID:23903356   PMID:23966867  
PMID:24140494   PMID:24226266   PMID:24443104   PMID:24489861   PMID:24618767   PMID:24861553   PMID:24890885   PMID:24932808   PMID:24964673   PMID:25031086   PMID:25189249   PMID:25231870  
PMID:25272002   PMID:25355447   PMID:25784503   PMID:26207343   PMID:26229104   PMID:26345846   PMID:26786350   PMID:27187081   PMID:27288825   PMID:27941249   PMID:28005267   PMID:28271036  
PMID:29128334   PMID:30021884   PMID:31504391   PMID:31852976   PMID:32291281   PMID:32457219   PMID:33554958   PMID:33961781   PMID:34068683   PMID:36292633   PMID:36822744   PMID:36864747  
PMID:37761915   PMID:37877373  


Genomics

Comparative Map Data
PCSK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38596,390,333 - 96,433,248 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl596,390,333 - 96,434,143 (-)EnsemblGRCh38hg38GRCh38
GRCh37595,726,037 - 95,768,952 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36595,751,875 - 95,794,708 (-)NCBINCBI36Build 36hg18NCBI36
Build 34595,751,874 - 95,794,708NCBI
Celera591,608,060 - 91,651,008 (-)NCBICelera
Cytogenetic Map5q15NCBI
HuRef590,916,038 - 90,958,959 (-)NCBIHuRef
CHM1_1595,158,671 - 95,201,600 (-)NCBICHM1_1
T2T-CHM13v2.0596,891,318 - 96,934,221 (-)NCBIT2T-CHM13v2.0
Pcsk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391375,237,407 - 75,282,980 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1375,237,945 - 75,282,980 (+)EnsemblGRCm39 Ensembl
GRCm381375,089,420 - 75,134,861 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1375,089,826 - 75,134,861 (+)EnsemblGRCm38mm10GRCm38
MGSCv371375,227,435 - 75,269,946 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361375,555,989 - 75,598,500 (+)NCBIMGSCv36mm8
Celera1377,413,324 - 77,455,835 (+)NCBICelera
Cytogenetic Map13C1NCBI
cM Map1340.63NCBI
Pcsk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr826,130,045 - 6,176,974 (+)NCBIGRCr8
mRatBN7.224,395,543 - 4,442,434 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl24,395,543 - 4,442,434 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx211,498,001 - 11,544,940 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.029,597,257 - 9,644,196 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.024,240,758 - 4,287,694 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0291,450,162 - 91,497,091 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl291,450,162 - 91,497,091 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.022,274,882 - 2,309,886 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.421,923,309 - 1,970,238 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.121,937,434 - 1,981,975 (+)NCBI
Celera2885,989 - 932,918 (+)NCBICelera
Cytogenetic Map2q11NCBI
Pcsk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541816,181,771 - 16,224,603 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541816,181,809 - 16,224,274 (+)NCBIChiLan1.0ChiLan1.0
PCSK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2418,947,427 - 18,989,920 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1517,101,051 - 17,143,521 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0518,917,488 - 18,960,102 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1519,064,004 - 19,106,486 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl519,064,004 - 19,106,486 (+)Ensemblpanpan1.1panPan2
PCSK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1313,233,342 - 13,276,921 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl313,233,594 - 13,274,094 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha314,573,263 - 14,616,624 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0313,112,863 - 13,155,997 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl313,112,897 - 13,155,993 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1313,076,913 - 13,120,227 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0313,073,463 - 13,116,776 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0313,272,840 - 13,316,211 (+)NCBIUU_Cfam_GSD_1.0
Pcsk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213168,824,505 - 168,864,179 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365237,010,068 - 7,050,468 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365237,009,966 - 7,050,300 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCSK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2103,004,794 - 103,050,839 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12103,004,794 - 103,050,707 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Pig Cytomap2qNCBI
PCSK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1490,246,413 - 90,289,148 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl490,248,598 - 90,289,089 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604938,898,564 - 38,941,574 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pcsk1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474314,994,172 - 15,036,412 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474314,993,436 - 15,036,512 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PCSK1
243 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) single nucleotide variant Body mass index quantitative trait locus 12 [RCV000022673]|not provided [RCV001636601]|not specified [RCV000731192] Chr5:96416081 [GRCh38]
Chr5:95751785 [GRCh37]
Chr5:5q15		 risk factor|benign
NM_000439.5(PCSK1):c.1447G>A (p.Gly483Arg) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000015081] Chr5:96399020 [GRCh38]
Chr5:95734724 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.620+4A>C single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000015082] Chr5:96421876 [GRCh38]
Chr5:95757580 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000015083] Chr5:96412452 [GRCh38]
Chr5:95748156 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.638_640del (p.Ala213del) deletion Obesity due to prohormone convertase I deficiency [RCV000015084] Chr5:96416102..96416104 [GRCh38]
Chr5:95751806..95751808 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.920C>T (p.Ser307Leu) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000015085] Chr5:96410949 [GRCh38]
Chr5:95746653 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.1774C>A (p.His592Asn) single nucleotide variant not provided [RCV000522431] Chr5:96394974 [GRCh38]
Chr5:95730678 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.4(PCSK1):c.286-114A>T single nucleotide variant Lung cancer [RCV000096337] Chr5:96426044 [GRCh38]
Chr5:95761748 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 copy number loss See cases [RCV000050945] Chr5:87376883..101524443 [GRCh38]
Chr5:86672700..100860147 [GRCh37]
Chr5:86708456..100888046 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1		 pathogenic
GRCh38/hg38 5q15(chr5:93405010-97716265)x3 copy number gain See cases [RCV000053285] Chr5:93405010..97716265 [GRCh38]
Chr5:92740716..97051969 [GRCh37]
Chr5:92766472..97077725 [NCBI36]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 copy number loss See cases [RCV000053516] Chr5:89081352..104687248 [GRCh38]
Chr5:88377169..104022949 [GRCh37]
Chr5:88412925..104050848 [NCBI36]
Chr5:5q14.3-21.2		 pathogenic
GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1 copy number loss See cases [RCV000053519] Chr5:91386552..98365880 [GRCh38]
Chr5:90682369..97701584 [GRCh37]
Chr5:90718125..97729488 [NCBI36]
Chr5:5q14.3-15		 pathogenic
NM_000439.4(PCSK1):c.1850G>A (p.Arg617Lys) single nucleotide variant Malignant melanoma [RCV000067047] Chr5:96394898 [GRCh38]
Chr5:95730602 [GRCh37]
Chr5:95756358 [NCBI36]
Chr5:5q15		 not provided
NM_000439.4(PCSK1):c.1727G>A (p.Gly576Glu) single nucleotide variant Malignant melanoma [RCV000067048] Chr5:96395021 [GRCh38]
Chr5:95730725 [GRCh37]
Chr5:95756481 [NCBI36]
Chr5:5q15		 not provided
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3		 pathogenic
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 copy number loss See cases [RCV000141252] Chr5:92899734..119614119 [GRCh38]
Chr5:92235441..118949814 [GRCh37]
Chr5:92261197..118977713 [NCBI36]
Chr5:5q14.3-23.1		 pathogenic
GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 copy number loss See cases [RCV000143249] Chr5:93193104..113287795 [GRCh38]
Chr5:92528810..112623492 [GRCh37]
Chr5:92554566..112651391 [NCBI36]
Chr5:5q15-22.2		 pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1		 pathogenic
NM_000439.5(PCSK1):c.1034A>C (p.Glu345Ala) single nucleotide variant not specified [RCV000202686] Chr5:96410835 [GRCh38]
Chr5:95746539 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*287A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000260656]|Obesity due to prohormone convertase I deficiency [RCV000353426] Chr5:96392714 [GRCh38]
Chr5:95728418 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1097C>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000259909]|Obesity due to prohormone convertase I deficiency [RCV000317430] Chr5:96391904 [GRCh38]
Chr5:95727608 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1041T>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000374499]|Obesity due to prohormone convertase I deficiency [RCV000282367] Chr5:96391960 [GRCh38]
Chr5:95727664 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1414A>G (p.Asn472Asp) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000328137]|Obesity due to prohormone convertase I deficiency [RCV000270763] Chr5:96399969 [GRCh38]
Chr5:95735673 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000368049]|Obesity due to prohormone convertase I deficiency [RCV000275790]|not provided [RCV002058545]|not specified [RCV001529723] Chr5:96397408 [GRCh38]
Chr5:95733112 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_000439.5(PCSK1):c.*1232G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000272141]|Obesity due to prohormone convertase I deficiency [RCV000329524] Chr5:96391769 [GRCh38]
Chr5:95727473 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.-96C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000323901]|Obesity due to prohormone convertase I deficiency [RCV000266381]|not provided [RCV003422343] Chr5:96433138 [GRCh38]
Chr5:95768842 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_000439.5(PCSK1):c.1197-9C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000283894]|Obesity due to prohormone convertase I deficiency [RCV000385249]|PCSK1-related condition [RCV003912513]|not provided [RCV000886542]|not specified [RCV001729558] Chr5:96400195 [GRCh38]
Chr5:95735899 [GRCh37]
Chr5:5q15		 benign|uncertain significance
NM_000439.5(PCSK1):c.*597T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000358756]|Obesity due to prohormone convertase I deficiency [RCV000301669] Chr5:96392404 [GRCh38]
Chr5:95728108 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.-21G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000358669]|Obesity due to prohormone convertase I deficiency [RCV000320312] Chr5:96433063 [GRCh38]
Chr5:95768767 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1196+10A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000322441]|Obesity due to prohormone convertase I deficiency [RCV000379399] Chr5:96408213 [GRCh38]
Chr5:95743917 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000304198]|Obesity due to prohormone convertase I deficiency [RCV000404859]|not provided [RCV001718762]|not specified [RCV000730962] Chr5:96393194 [GRCh38]
Chr5:95728898 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_000439.5(PCSK1):c.1179T>C (p.Ala393=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000334856]|Obesity due to prohormone convertase I deficiency [RCV000286908]|not provided [RCV002061298] Chr5:96408240 [GRCh38]
Chr5:95743944 [GRCh37]
Chr5:5q15		 benign|uncertain significance
NM_000439.5(PCSK1):c.*1842G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000384857]|Obesity due to prohormone convertase I deficiency [RCV000325675] Chr5:96391159 [GRCh38]
Chr5:95726863 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*265T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000318486]|Obesity due to prohormone convertase I deficiency [RCV000375391]|not provided [RCV001672667] Chr5:96392736 [GRCh38]
Chr5:95728440 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_000439.5(PCSK1):c.284G>A (p.Arg95His) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000272404]|Obesity due to prohormone convertase I deficiency [RCV000364590] Chr5:96429214 [GRCh38]
Chr5:95764918 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*826del deletion Monogenic Non-Syndromic Obesity [RCV000406522]|Obesity due to prohormone convertase I deficiency [RCV000307625] Chr5:96392175 [GRCh38]
Chr5:95727879 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.397-10T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000307699]|Obesity due to prohormone convertase I deficiency [RCV000395733]|PCSK1-related condition [RCV003912514]|not provided [RCV000880021]|not specified [RCV001821081] Chr5:96423469 [GRCh38]
Chr5:95759173 [GRCh37]
Chr5:5q15		 benign|uncertain significance
NM_000439.5(PCSK1):c.*1733G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000290620]|Obesity due to prohormone convertase I deficiency [RCV000322249] Chr5:96391268 [GRCh38]
Chr5:95726972 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000397598]|Obesity due to prohormone convertase I deficiency [RCV000342685]|not provided [RCV001672668]|not specified [RCV000730963] Chr5:96393270 [GRCh38]
Chr5:95728974 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_000439.5(PCSK1):c.*1530T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000342580]|Obesity due to prohormone convertase I deficiency [RCV000405998] Chr5:96391471 [GRCh38]
Chr5:95727175 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.-140C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000349980]|Obesity due to prohormone convertase I deficiency [RCV000292648] Chr5:96433182 [GRCh38]
Chr5:95768886 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1333A>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000307358]|Obesity due to prohormone convertase I deficiency [RCV000364374] Chr5:96391668 [GRCh38]
Chr5:95727372 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000363149]|Obesity due to prohormone convertase I deficiency [RCV000334133]|PCSK1-related condition [RCV003957829] Chr5:96398964 [GRCh38]
Chr5:95734668 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_000439.5(PCSK1):c.612C>T (p.Asn204=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000313031]|Obesity due to prohormone convertase I deficiency [RCV000369988]|not provided [RCV001613176] Chr5:96421888 [GRCh38]
Chr5:95757592 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_000439.5(PCSK1):c.*837G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000294746]|Obesity due to prohormone convertase I deficiency [RCV000351954] Chr5:96392164 [GRCh38]
Chr5:95727868 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.-101T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000371861]|Obesity due to prohormone convertase I deficiency [RCV000279593]|not provided [RCV001709626] Chr5:96433143 [GRCh38]
Chr5:95768847 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000397585]|Obesity due to prohormone convertase I deficiency [RCV000310895]|PCSK1-related condition [RCV003932461]|not provided [RCV001701867]|not specified [RCV001700083] Chr5:96394984 [GRCh38]
Chr5:95730688 [GRCh37]
Chr5:5q15		 benign|likely benign|uncertain significance
NM_000439.5(PCSK1):c.1096-10C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000390603]|Obesity due to prohormone convertase I deficiency [RCV000281077]|not provided [RCV002058546] Chr5:96408333 [GRCh38]
Chr5:95744037 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_000439.5(PCSK1):c.*2019A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000299659]|Obesity due to prohormone convertase I deficiency [RCV000368351] Chr5:96390982 [GRCh38]
Chr5:95726686 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000298180]|Obesity due to prohormone convertase I deficiency [RCV000355401]|not provided [RCV000969200] Chr5:96393340 [GRCh38]
Chr5:95729044 [GRCh37]
Chr5:5q15		 benign|uncertain significance
NM_000439.5(PCSK1):c.*1854T>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000270498]|Obesity due to prohormone convertase I deficiency [RCV000369701] Chr5:96391147 [GRCh38]
Chr5:95726851 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*262del deletion Monogenic Non-Syndromic Obesity [RCV000331249]|Obesity due to prohormone convertase I deficiency [RCV000273783] Chr5:96392739 [GRCh38]
Chr5:95728443 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1912G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000333819]|Obesity due to prohormone convertase I deficiency [RCV000274002] Chr5:96391089 [GRCh38]
Chr5:95726793 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*737_*739dup duplication Monogenic Non-Syndromic Obesity [RCV000345988]|Obesity due to prohormone convertase I deficiency [RCV000395546] Chr5:96392261..96392262 [GRCh38]
Chr5:95727965..95727966 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.*1231C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000358567]|Obesity due to prohormone convertase I deficiency [RCV000266215] Chr5:96391770 [GRCh38]
Chr5:95727474 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*471C>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000305580]|Obesity due to prohormone convertase I deficiency [RCV000266737] Chr5:96392530 [GRCh38]
Chr5:95728234 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_000439.5(PCSK1):c.2253G>A (p.Glu751=) single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000383668]|Obesity due to prohormone convertase I deficiency [RCV000345441] Chr5:96393010 [GRCh38]
Chr5:95728714 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe) single nucleotide variant Body mass index quantitative trait locus 12 [RCV002488787]|Monogenic Non-Syndromic Obesity [RCV000291728]|Obesity due to prohormone convertase I deficiency [RCV000339691] Chr5:96393126 [GRCh38]
Chr5:95728830 [GRCh37]
Chr5:5q15		 uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_000439.5(PCSK1):c.-137A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000318260]|Obesity due to prohormone convertase I deficiency [RCV000375165] Chr5:96433179 [GRCh38]
Chr5:95768883 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*905T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000387259]|Obesity due to prohormone convertase I deficiency [RCV000349069] Chr5:96392096 [GRCh38]
Chr5:95727800 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1571A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000376944]|Obesity due to prohormone convertase I deficiency [RCV000285319] Chr5:96391430 [GRCh38]
Chr5:95727134 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.-147C>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000404347]|Obesity due to prohormone convertase I deficiency [RCV000296164] Chr5:96433189 [GRCh38]
Chr5:95768893 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1401C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000370187]|Obesity due to prohormone convertase I deficiency [RCV000395767] Chr5:96391600 [GRCh38]
Chr5:95727304 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1164T>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000323230]|Obesity due to prohormone convertase I deficiency [RCV000380223] Chr5:96391837 [GRCh38]
Chr5:95727541 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*2166C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000353213]|Obesity due to prohormone convertase I deficiency [RCV000397671] Chr5:96390835 [GRCh38]
Chr5:95726539 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*2288A>G single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000342865]|Obesity due to prohormone convertase I deficiency [RCV000298594] Chr5:96390713 [GRCh38]
Chr5:95726417 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*88G>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000288016]|Obesity due to prohormone convertase I deficiency [RCV000389448] Chr5:96392913 [GRCh38]
Chr5:95728617 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1414A>C single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000395776]|Obesity due to prohormone convertase I deficiency [RCV000310993] Chr5:96391587 [GRCh38]
Chr5:95727291 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1345C>G (p.Leu449Val) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001152562] Chr5:96400038 [GRCh38]
Chr5:95735742 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1146G>A (p.Ser382=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001152563] Chr5:96408273 [GRCh38]
Chr5:95743977 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.676G>A (p.Gly226Arg) single nucleotide variant not provided [RCV000732517] Chr5:96416066 [GRCh38]
Chr5:95751770 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001158034]|PCSK1-related condition [RCV003409704]|not provided [RCV001700397]|not specified [RCV000503873] Chr5:96393345 [GRCh38]
Chr5:95729049 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1 copy number loss See cases [RCV000510548] Chr5:95049966..103537589 [GRCh37]
Chr5:5q15-21.2		 likely pathogenic
NM_000439.5(PCSK1):c.183T>C (p.Ile61=) single nucleotide variant PCSK1-related condition [RCV003925485]|not specified [RCV000502243] Chr5:96429315 [GRCh38]
Chr5:95765019 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q15(chr5:95344459-96069761)x3 copy number gain See cases [RCV000510669] Chr5:95344459..96069761 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) single nucleotide variant Body mass index quantitative trait locus 12 [RCV002481578]|not provided [RCV000497715] Chr5:96399996 [GRCh38]
Chr5:95735700 [GRCh37]
Chr5:5q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_000439.5(PCSK1):c.595C>A (p.Arg199=) single nucleotide variant not specified [RCV000500465] Chr5:96421905 [GRCh38]
Chr5:95757609 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
NM_000439.5(PCSK1):c.180+757A>G single nucleotide variant PCSK1-related condition [RCV003942610]|not provided [RCV000494551] Chr5:96432106 [GRCh38]
Chr5:95767810 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_000439.5(PCSK1):c.1625A>G (p.Asp542Gly) single nucleotide variant PCSK1-related condition [RCV003983104]|not provided [RCV000518996] Chr5:96397433 [GRCh38]
Chr5:95733137 [GRCh37]
Chr5:5q15		 likely pathogenic|uncertain significance
GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1 copy number loss not provided [RCV000682580] Chr5:91504101..104858348 [GRCh37]
Chr5:5q14.3-21.3		 pathogenic
NM_000439.5(PCSK1):c.1549C>T (p.Arg517Ter) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001807939] Chr5:96398918 [GRCh38]
Chr5:95734622 [GRCh37]
Chr5:5q15		 likely pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_000439.5(PCSK1):c.397-260G>A single nucleotide variant not provided [RCV001541403] Chr5:96423719 [GRCh38]
Chr5:95759423 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.396+90_396+91del deletion not provided [RCV001689528] Chr5:96425729..96425730 [GRCh38]
Chr5:95761433..95761434 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.334G>A (p.Ala112Thr) single nucleotide variant not provided [RCV001699928] Chr5:96425882 [GRCh38]
Chr5:95761586 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.396+91del deletion not provided [RCV001680502] Chr5:96425729 [GRCh38]
Chr5:95761433 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.181-58A>C single nucleotide variant not provided [RCV001680071] Chr5:96429375 [GRCh38]
Chr5:95765079 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.2145C>T (p.Asp715=) single nucleotide variant not provided [RCV000907005] Chr5:96393118 [GRCh38]
Chr5:95728822 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.42C>T (p.Val14=) single nucleotide variant not provided [RCV000901011] Chr5:96433001 [GRCh38]
Chr5:95768705 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.270A>G (p.Leu90=) single nucleotide variant PCSK1-related condition [RCV003930552]|not provided [RCV000881877]|not specified [RCV001817075] Chr5:96429228 [GRCh38]
Chr5:95764932 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1257G>A (p.Pro419=) single nucleotide variant not provided [RCV000979620] Chr5:96400126 [GRCh38]
Chr5:95735830 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1497T>C (p.Asn499=) single nucleotide variant not provided [RCV000923337] Chr5:96398970 [GRCh38]
Chr5:95734674 [GRCh37]
Chr5:5q15		 likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_000439.5(PCSK1):c.1326C>G (p.Gly442=) single nucleotide variant not provided [RCV000938721] Chr5:96400057 [GRCh38]
Chr5:95735761 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q15(chr5:95335480-97832367)x3 copy number gain not provided [RCV000848836] Chr5:95335480..97832367 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3		 pathogenic
NM_000439.5(PCSK1):c.958G>C (p.Asp320His) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000987545] Chr5:96410911 [GRCh38]
Chr5:95746615 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1688C>G (p.Pro563Arg) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000995597] Chr5:96397370 [GRCh38]
Chr5:95733074 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.1346T>C (p.Leu449Pro) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV000995598] Chr5:96400037 [GRCh38]
Chr5:95735741 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.541T>C (p.Tyr181His) single nucleotide variant Body mass index quantitative trait locus 12 [RCV002497582]|Obesity due to prohormone convertase I deficiency [RCV001156476]|PCSK1-related condition [RCV003938522]|not provided [RCV001700981] Chr5:96423315 [GRCh38]
Chr5:95759019 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1030G>A (p.Ala344Thr) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153844]|PCSK1-related condition [RCV003938521]|not provided [RCV002070876] Chr5:96410839 [GRCh38]
Chr5:95746543 [GRCh37]
Chr5:5q15		 benign|uncertain significance
NM_000439.5(PCSK1):c.1824G>A (p.Thr608=) single nucleotide variant PCSK1-related condition [RCV003973753]|not provided [RCV003106461] Chr5:96394924 [GRCh38]
Chr5:95730628 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1673C>A (p.Thr558Lys) single nucleotide variant Inborn genetic diseases [RCV003239613] Chr5:96397385 [GRCh38]
Chr5:95733089 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1722+272T>A single nucleotide variant not provided [RCV001709116] Chr5:96397064 [GRCh38]
Chr5:95732768 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.544-47_544-38del deletion not provided [RCV001682387] Chr5:96421994..96422003 [GRCh38]
Chr5:95757698..95757707 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.1723-153T>C single nucleotide variant not provided [RCV001674265] Chr5:96395178 [GRCh38]
Chr5:95730882 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.181-351G>A single nucleotide variant not provided [RCV001611125] Chr5:96429668 [GRCh38]
Chr5:95765372 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.1197-305C>T single nucleotide variant not provided [RCV001687390] Chr5:96400491 [GRCh38]
Chr5:95736195 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.1722+54A>G single nucleotide variant not provided [RCV001677788] Chr5:96397282 [GRCh38]
Chr5:95732986 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.544-39_544-38del deletion not provided [RCV001644343] Chr5:96421994..96421995 [GRCh38]
Chr5:95757698..95757699 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.1884+13C>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001158035] Chr5:96394851 [GRCh38]
Chr5:95730555 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.624C>T (p.His208=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156474]|not provided [RCV002070926] Chr5:96416118 [GRCh38]
Chr5:95751822 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_000439.5(PCSK1):c.352C>T (p.Leu118=) single nucleotide variant Body mass index quantitative trait locus 12 [RCV002495503]|PCSK1-related condition [RCV003895545]|not provided [RCV000911791] Chr5:96425864 [GRCh38]
Chr5:95761568 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15		 pathogenic
NM_000439.5(PCSK1):c.181-305T>C single nucleotide variant not provided [RCV001674801] Chr5:96429622 [GRCh38]
Chr5:95765326 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.544-40_544-38del deletion not provided [RCV001527972] Chr5:96421994..96421996 [GRCh38]
Chr5:95757698..95757700 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.1095+123A>C single nucleotide variant not provided [RCV001719255] Chr5:96410651 [GRCh38]
Chr5:95746355 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.1884+107G>A single nucleotide variant not provided [RCV001599124] Chr5:96394757 [GRCh38]
Chr5:95730461 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.*1307A>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156257] Chr5:96391694 [GRCh38]
Chr5:95727398 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1982G>T (p.Gly661Val) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156360] Chr5:96393281 [GRCh38]
Chr5:95728985 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.559T>C (p.Tyr187His) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156475]|PCSK1-related condition [RCV003413959] Chr5:96421941 [GRCh38]
Chr5:95757645 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*2636C>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157847] Chr5:96390365 [GRCh38]
Chr5:95726069 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*2187G>A single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157851] Chr5:96390814 [GRCh38]
Chr5:95726518 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1132C>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157929] Chr5:96391869 [GRCh38]
Chr5:95727573 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*2582A>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157850] Chr5:96390419 [GRCh38]
Chr5:95726123 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1780A>G (p.Thr594Ala) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001158037] Chr5:96394968 [GRCh38]
Chr5:95730672 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.121G>A (p.Gly41Arg) single nucleotide variant Inborn genetic diseases [RCV003293909]|Obesity due to prohormone convertase I deficiency [RCV001158139] Chr5:96432922 [GRCh38]
Chr5:95768626 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1967C>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001152371] Chr5:96391034 [GRCh38]
Chr5:95726738 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.945T>C (p.Asp315=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153846] Chr5:96410924 [GRCh38]
Chr5:95746628 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.544-45_544-38del deletion not provided [RCV001684592] Chr5:96421994..96422001 [GRCh38]
Chr5:95757698..95757705 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.1196+219G>A single nucleotide variant not provided [RCV001614197] Chr5:96408004 [GRCh38]
Chr5:95743708 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.285+227G>A single nucleotide variant not provided [RCV001681276] Chr5:96428986 [GRCh38]
Chr5:95764690 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.709+219dup duplication not provided [RCV001714032] Chr5:96415805..96415806 [GRCh38]
Chr5:95751509..95751510 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.375G>A (p.Met125Ile) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156478]|PCSK1-related condition [RCV003938523]|not provided [RCV001567232] Chr5:96425841 [GRCh38]
Chr5:95761545 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*170A>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153739] Chr5:96392831 [GRCh38]
Chr5:95728535 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*2115G>A single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157852] Chr5:96390886 [GRCh38]
Chr5:95726590 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*2634G>A single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157848] Chr5:96390367 [GRCh38]
Chr5:95726071 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*974A>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157930] Chr5:96392027 [GRCh38]
Chr5:95727731 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1884+11C>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001158036] Chr5:96394853 [GRCh38]
Chr5:95730557 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.2247G>A (p.Leu749=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156359] Chr5:96393016 [GRCh38]
Chr5:95728720 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.524C>T (p.Thr175Met) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156477]|PCSK1-related condition [RCV003405360] Chr5:96423332 [GRCh38]
Chr5:95759036 [GRCh37]
Chr5:5q15		 likely pathogenic|uncertain significance
NM_000439.5(PCSK1):c.*120C>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153740] Chr5:96392881 [GRCh38]
Chr5:95728585 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.993C>T (p.Ile331=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153845] Chr5:96410876 [GRCh38]
Chr5:95746580 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.927C>T (p.Asn309=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153847]|PCSK1-related condition [RCV003983840]|not provided [RCV002559483]|not specified [RCV001819862] Chr5:96410942 [GRCh38]
Chr5:95746646 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_000439.5(PCSK1):c.238C>T (p.Arg80Ter) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001290206] Chr5:96429260 [GRCh38]
Chr5:95764964 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.1692A>G (p.Ile564Met) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001334451] Chr5:96397366 [GRCh38]
Chr5:95733070 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1885-324C>T single nucleotide variant not provided [RCV001725403] Chr5:96393702 [GRCh38]
Chr5:95729406 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.180+647A>G single nucleotide variant not provided [RCV001695125] Chr5:96432216 [GRCh38]
Chr5:95767920 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.709+188T>C single nucleotide variant not provided [RCV001653271] Chr5:96415845 [GRCh38]
Chr5:95751549 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.544-46_544-38del deletion not provided [RCV001654681] Chr5:96421994..96422002 [GRCh38]
Chr5:95757698..95757706 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.62_75del (p.Ala21fs) deletion Obesity due to prohormone convertase I deficiency [RCV001782584] Chr5:96432968..96432981 [GRCh38]
Chr5:95768672..95768685 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.856A>T (p.Lys286Ter) single nucleotide variant not provided [RCV003238715] Chr5:96412344 [GRCh38]
Chr5:95748048 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.1214G>A (p.Arg405Gln) single nucleotide variant not provided [RCV001773191] Chr5:96400169 [GRCh38]
Chr5:95735873 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.2053C>T (p.Pro685Ser) single nucleotide variant not provided [RCV003238716] Chr5:96393210 [GRCh38]
Chr5:95728914 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.164del (p.Tyr55fs) deletion Obesity due to prohormone convertase I deficiency [RCV001782585] Chr5:96432879 [GRCh38]
Chr5:95768583 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.958dup (p.Asp320fs) duplication Obesity due to prohormone convertase I deficiency [RCV001784811] Chr5:96410910..96410911 [GRCh38]
Chr5:95746614..95746615 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.239G>A (p.Arg80Gln) single nucleotide variant not provided [RCV002077275]|not specified [RCV001822203] Chr5:96429259 [GRCh38]
Chr5:95764963 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met) single nucleotide variant PCSK1-related condition [RCV003941147]|not specified [RCV001822262] Chr5:96423386 [GRCh38]
Chr5:95759090 [GRCh37]
Chr5:5q15		 likely pathogenic|uncertain significance
NM_000439.5(PCSK1):c.1550G>A (p.Arg517Gln) single nucleotide variant PCSK1-related condition [RCV003416479]|not specified [RCV001822401] Chr5:96398917 [GRCh38]
Chr5:95734621 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.675C>A (p.Cys225Ter) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001808251] Chr5:96416067 [GRCh38]
Chr5:95751771 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.1313G>A (p.Arg438Gln) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001823847] Chr5:96400070 [GRCh38]
Chr5:95735774 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.586C>T (p.Pro196Ser) single nucleotide variant not provided [RCV001863575] Chr5:96421914 [GRCh38]
Chr5:95757618 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1537A>G (p.Ile513Val) single nucleotide variant not provided [RCV001949187] Chr5:96398930 [GRCh38]
Chr5:95734634 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh37/hg19 5q15-22.3(chr5:93650000-114969108) copy number loss not specified [RCV002053511] Chr5:93650000..114969108 [GRCh37]
Chr5:5q15-22.3		 pathogenic
NM_000439.5(PCSK1):c.805G>T (p.Gly269Cys) single nucleotide variant not provided [RCV002005478] Chr5:96412395 [GRCh38]
Chr5:95748099 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.65T>C (p.Leu22Pro) single nucleotide variant PCSK1-related condition [RCV003913428]|not provided [RCV001942412] Chr5:96432978 [GRCh38]
Chr5:95768682 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_000439.5(PCSK1):c.296C>T (p.Ala99Val) single nucleotide variant not provided [RCV001979145] Chr5:96425920 [GRCh38]
Chr5:95761624 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.112G>A (p.Glu38Lys) single nucleotide variant not provided [RCV001879710] Chr5:96432931 [GRCh38]
Chr5:95768635 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1292C>A (p.Ala431Glu) single nucleotide variant not provided [RCV002013668] Chr5:96400091 [GRCh38]
Chr5:95735795 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.986T>C (p.Ile329Thr) single nucleotide variant not provided [RCV001917626] Chr5:96410883 [GRCh38]
Chr5:95746587 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.2257A>C (p.Asn753His) single nucleotide variant PCSK1-related condition [RCV003407922]|not provided [RCV001917924] Chr5:96393006 [GRCh38]
Chr5:95728710 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.423G>A (p.Leu141=) single nucleotide variant PCSK1-related condition [RCV003958487]|not provided [RCV002085126] Chr5:96423433 [GRCh38]
Chr5:95759137 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1722+7G>A single nucleotide variant not provided [RCV002089967] Chr5:96397329 [GRCh38]
Chr5:95733033 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1197-16G>A single nucleotide variant not provided [RCV002074706] Chr5:96400202 [GRCh38]
Chr5:95735906 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1686C>T (p.Asn562=) single nucleotide variant not provided [RCV002148003] Chr5:96397372 [GRCh38]
Chr5:95733076 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1013G>T (p.Gly338Val) single nucleotide variant not provided [RCV002224477] Chr5:96410856 [GRCh38]
Chr5:95746560 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.397-19C>T single nucleotide variant not provided [RCV002198533] Chr5:96423478 [GRCh38]
Chr5:95759182 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.396+9C>G single nucleotide variant not provided [RCV002103085] Chr5:96425811 [GRCh38]
Chr5:95761515 [GRCh37]
Chr5:5q15		 likely benign
NC_000005.9:g.(?_95728705)_(95765041_?)del deletion not provided [RCV003111228] Chr5:95728705..95765041 [GRCh37]
Chr5:5q15		 pathogenic
NC_000005.9:g.(?_95743907)_(95768746_?)dup duplication not provided [RCV003111229] Chr5:95743907..95768746 [GRCh37]
Chr5:5q15		 uncertain significance
NC_000005.9:g.(?_94800311)_(96107383_?)del deletion not provided [RCV003116754] Chr5:94800311..96107383 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.927C>G (p.Asn309Lys) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV002291322] Chr5:96410942 [GRCh38]
Chr5:95746646 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.1095+1G>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV002306253] Chr5:96410773 [GRCh38]
Chr5:95746477 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.1095+1G>A single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV002306254]|not provided [RCV003326626] Chr5:96410773 [GRCh38]
Chr5:95746477 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_000439.5(PCSK1):c.1350_1353del (p.Val450_Asp451insTer) deletion Obesity due to prohormone convertase I deficiency [RCV002306255] Chr5:96400030..96400033 [GRCh38]
Chr5:95735734..95735737 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.910G>A (p.Val304Ile) single nucleotide variant PCSK1-related condition [RCV003418645]|not provided [RCV002904737] Chr5:96410959 [GRCh38]
Chr5:95746663 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.620+10T>C single nucleotide variant not provided [RCV002734820] Chr5:96421870 [GRCh38]
Chr5:95757574 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.285+1G>A single nucleotide variant not provided [RCV002696258] Chr5:96429212 [GRCh38]
Chr5:95764916 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.80C>T (p.Ala27Val) single nucleotide variant PCSK1-related condition [RCV003963428]|not provided [RCV002927610] Chr5:96432963 [GRCh38]
Chr5:95768667 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1433C>A (p.Ala478Asp) single nucleotide variant not provided [RCV002619743] Chr5:96399034 [GRCh38]
Chr5:95734738 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1196+19C>G single nucleotide variant not provided [RCV002795812] Chr5:96408204 [GRCh38]
Chr5:95743908 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.1405G>T (p.Val469Leu) single nucleotide variant Inborn genetic diseases [RCV002911146] Chr5:96399978 [GRCh38]
Chr5:95735682 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1268A>G (p.Asn423Ser) single nucleotide variant Inborn genetic diseases [RCV002869669] Chr5:96400115 [GRCh38]
Chr5:95735819 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.414G>A (p.Thr138=) single nucleotide variant not provided [RCV002622424] Chr5:96423442 [GRCh38]
Chr5:95759146 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.2236G>A (p.Val746Met) single nucleotide variant not provided [RCV003007311] Chr5:96393027 [GRCh38]
Chr5:95728731 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.772C>A (p.Pro258Thr) single nucleotide variant PCSK1-related condition [RCV003953969]|not provided [RCV002640738] Chr5:96412428 [GRCh38]
Chr5:95748132 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.2179G>A (p.Val727Ile) single nucleotide variant Inborn genetic diseases [RCV002712247] Chr5:96393084 [GRCh38]
Chr5:95728788 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1221G>A (p.Met407Ile) single nucleotide variant Inborn genetic diseases [RCV002743518] Chr5:96400162 [GRCh38]
Chr5:95735866 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1063T>C (p.Tyr355His) single nucleotide variant Inborn genetic diseases [RCV002803685]|PCSK1-related condition [RCV003900893] Chr5:96410806 [GRCh38]
Chr5:95746510 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.490A>G (p.Thr164Ala) single nucleotide variant not provided [RCV002640739] Chr5:96423366 [GRCh38]
Chr5:95759070 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.37T>C (p.Phe13Leu) single nucleotide variant not provided [RCV002853294] Chr5:96433006 [GRCh38]
Chr5:95768710 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.625G>A (p.Gly209Arg) single nucleotide variant not provided [RCV002664371] Chr5:96416117 [GRCh38]
Chr5:95751821 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.710-9G>A single nucleotide variant not provided [RCV002791033] Chr5:96412499 [GRCh38]
Chr5:95748203 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1029C>G (p.Tyr343Ter) single nucleotide variant not provided [RCV002640737] Chr5:96410840 [GRCh38]
Chr5:95746544 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.1457T>C (p.Ile486Thr) single nucleotide variant not provided [RCV003047461] Chr5:96399010 [GRCh38]
Chr5:95734714 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1350G>C (p.Val450=) single nucleotide variant not provided [RCV003049399] Chr5:96400033 [GRCh38]
Chr5:95735737 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1926G>A (p.Val642=) single nucleotide variant not provided [RCV003049235] Chr5:96393337 [GRCh38]
Chr5:95729041 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1746A>G (p.Gly582=) single nucleotide variant not provided [RCV002598486] Chr5:96395002 [GRCh38]
Chr5:95730706 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.180+15T>G single nucleotide variant not provided [RCV002601362] Chr5:96432848 [GRCh38]
Chr5:95768552 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1597A>G (p.Thr533Ala) single nucleotide variant Inborn genetic diseases [RCV002855779] Chr5:96397461 [GRCh38]
Chr5:95733165 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.710-8T>G single nucleotide variant not provided [RCV002806182] Chr5:96412498 [GRCh38]
Chr5:95748202 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.882+13A>G single nucleotide variant not provided [RCV002966901] Chr5:96412305 [GRCh38]
Chr5:95748009 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.180+2T>A single nucleotide variant not provided [RCV002943832] Chr5:96432861 [GRCh38]
Chr5:95768565 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.710-18_710-15del deletion not provided [RCV002583964] Chr5:96412505..96412508 [GRCh38]
Chr5:95748209..95748212 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.710-13T>C single nucleotide variant not provided [RCV002654390] Chr5:96412503 [GRCh38]
Chr5:95748207 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.675C>T (p.Cys225=) single nucleotide variant not provided [RCV002586948] Chr5:96416067 [GRCh38]
Chr5:95751771 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.638C>T (p.Ala213Val) single nucleotide variant Body mass index quantitative trait locus 12 [RCV003228614] Chr5:96416104 [GRCh38]
Chr5:95751808 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1430+7A>G single nucleotide variant Body mass index quantitative trait locus 12 [RCV003228638] Chr5:96399946 [GRCh38]
Chr5:95735650 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.818del (p.Asp273fs) deletion Obesity due to prohormone convertase I deficiency [RCV003227576] Chr5:96412382 [GRCh38]
Chr5:95748086 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.578A>G (p.Asp193Gly) single nucleotide variant PCSK1-related condition [RCV003412107]|not provided [RCV003778197] Chr5:96421922 [GRCh38]
Chr5:95757626 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.180+771del deletion PCSK1-related condition [RCV003412486] Chr5:96432092 [GRCh38]
Chr5:95767796 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.365A>G (p.Asn122Ser) single nucleotide variant PCSK1-related condition [RCV003414398] Chr5:96425851 [GRCh38]
Chr5:95761555 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.236C>G (p.Ser79Cys) single nucleotide variant PCSK1-related condition [RCV003414556] Chr5:96429262 [GRCh38]
Chr5:95764966 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1287T>A (p.Asn429Lys) single nucleotide variant not provided [RCV003443969] Chr5:96400096 [GRCh38]
Chr5:95735800 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.467T>C (p.Ile156Thr) single nucleotide variant PCSK1-related condition [RCV003392758] Chr5:96423389 [GRCh38]
Chr5:95759093 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.492C>T (p.Thr164=) single nucleotide variant not provided [RCV003740307] Chr5:96423364 [GRCh38]
Chr5:95759068 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.780C>T (p.His260=) single nucleotide variant PCSK1-related condition [RCV003956524]|not provided [RCV003728946] Chr5:96412420 [GRCh38]
Chr5:95748124 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1095+8G>T single nucleotide variant not provided [RCV003730594] Chr5:96410766 [GRCh38]
Chr5:95746470 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1974G>A (p.Leu658=) single nucleotide variant not provided [RCV003684706] Chr5:96393289 [GRCh38]
Chr5:95728993 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.366T>C (p.Asn122=) single nucleotide variant not provided [RCV003671399] Chr5:96425850 [GRCh38]
Chr5:95761554 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1956G>T (p.Gly652=) single nucleotide variant not provided [RCV003677081] Chr5:96393307 [GRCh38]
Chr5:95729011 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.544-20A>G single nucleotide variant not provided [RCV003701433] Chr5:96421976 [GRCh38]
Chr5:95757680 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q15(chr5:95019029-95937906)x1 copy number loss not provided [RCV003485472] Chr5:95019029..95937906 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.292T>C (p.Trp98Arg) single nucleotide variant PCSK1-related condition [RCV003405981] Chr5:96425924 [GRCh38]
Chr5:95761628 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1666G>A (p.Val556Ile) single nucleotide variant PCSK1-related condition [RCV003421075] Chr5:96397392 [GRCh38]
Chr5:95733096 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.226C>T (p.Pro76Ser) single nucleotide variant PCSK1-related condition [RCV003393083] Chr5:96429272 [GRCh38]
Chr5:95764976 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.745A>G (p.Ile249Val) single nucleotide variant PCSK1-related condition [RCV003392757] Chr5:96412455 [GRCh38]
Chr5:95748159 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.539A>G (p.Asn180Ser) single nucleotide variant PCSK1-related condition [RCV003408696] Chr5:96423317 [GRCh38]
Chr5:95759021 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1102G>A (p.Ala368Thr) single nucleotide variant PCSK1-related condition [RCV003399512] Chr5:96408317 [GRCh38]
Chr5:95744021 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1691T>C (p.Ile564Thr) single nucleotide variant PCSK1-related condition [RCV003418895] Chr5:96397367 [GRCh38]
Chr5:95733071 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1109T>C (p.Leu370Pro) single nucleotide variant not provided [RCV003428560] Chr5:96408310 [GRCh38]
Chr5:95744014 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.760A>G (p.Ile254Val) single nucleotide variant PCSK1-related condition [RCV003427830] Chr5:96412440 [GRCh38]
Chr5:95748144 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1935C>A (p.Ser645Arg) single nucleotide variant PCSK1-related condition [RCV003392930] Chr5:96393328 [GRCh38]
Chr5:95729032 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.413C>T (p.Thr138Met) single nucleotide variant PCSK1-related condition [RCV003427866]|not provided [RCV003883992] Chr5:96423443 [GRCh38]
Chr5:95759147 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_000439.5(PCSK1):c.1024del (p.Trp342fs) deletion Body mass index quantitative trait locus 12 [RCV003441152] Chr5:96410845 [GRCh38]
Chr5:95746549 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.1589-15G>C single nucleotide variant not provided [RCV003552795] Chr5:96397484 [GRCh38]
Chr5:95733188 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.543+1G>A single nucleotide variant not provided [RCV003577444] Chr5:96423312 [GRCh38]
Chr5:95759016 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.1588+8A>T single nucleotide variant not provided [RCV003554249] Chr5:96398871 [GRCh38]
Chr5:95734575 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1589-9G>A single nucleotide variant not provided [RCV003828639] Chr5:96397478 [GRCh38]
Chr5:95733182 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.700A>G (p.Lys234Glu) single nucleotide variant not provided [RCV000087170] Chr5:96416042 [GRCh38]
Chr5:95751746 [GRCh37]
Chr5:5q15		 uncertain significance
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 copy number loss See cases [RCV000135748] Chr5:85966055..101335711 [GRCh38]
Chr5:85261873..100671415 [GRCh37]
Chr5:85297629..100699314 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 copy number loss See cases [RCV000139656] Chr5:84603580..111435081 [GRCh38]
Chr5:83899398..110770779 [GRCh37]
Chr5:83935154..110798678 [NCBI36]
Chr5:5q14.3-22.1		 pathogenic
NM_000439.5(PCSK1):c.*1443C>T single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000279298]|Obesity due to prohormone convertase I deficiency [RCV000336741] Chr5:96391558 [GRCh38]
Chr5:95727262 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.709+11G>A single nucleotide variant Monogenic Non-Syndromic Obesity [RCV000395731]|Obesity due to prohormone convertase I deficiency [RCV000338489]|not provided [RCV003766040] Chr5:96416022 [GRCh38]
Chr5:95751726 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_000439.5(PCSK1):c.1405G>A (p.Val469Ile) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001152561]|not provided [RCV000498556] Chr5:96399978 [GRCh38]
Chr5:95735682 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.323G>C (p.Ser108Thr) single nucleotide variant Inborn genetic diseases [RCV003295057] Chr5:96425893 [GRCh38]
Chr5:95761597 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_000439.5(PCSK1):c.1071C>T (p.Ser357=) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153843]|not provided [RCV000883931] Chr5:96410798 [GRCh38]
Chr5:95746502 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_000439.5(PCSK1):c.1518T>C (p.His506=) single nucleotide variant not provided [RCV000924135] Chr5:96398949 [GRCh38]
Chr5:95734653 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1124C>G (p.Thr375Arg) single nucleotide variant Inborn genetic diseases [RCV003272795] Chr5:96408295 [GRCh38]
Chr5:95743999 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*2611A>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001157849] Chr5:96390390 [GRCh38]
Chr5:95726094 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.180+864G>A single nucleotide variant not provided [RCV001636368] Chr5:96431999 [GRCh38]
Chr5:95767703 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.882+56_882+58del microsatellite not provided [RCV001655391] Chr5:96412260..96412262 [GRCh38]
Chr5:95747964..95747966 [GRCh37]
Chr5:5q15		 benign
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 copy number gain See cases [RCV001007415] Chr5:87792844..109221844 [GRCh37]
Chr5:5q14.3-21.3		 likely pathogenic
NM_000439.5(PCSK1):c.*245G>T single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001153738] Chr5:96392756 [GRCh38]
Chr5:95728460 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*1372C>G single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001156256] Chr5:96391629 [GRCh38]
Chr5:95727333 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.*438C>A single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV001152464] Chr5:96392563 [GRCh38]
Chr5:95728267 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.544-38del deletion not provided [RCV001647952] Chr5:96421994 [GRCh38]
Chr5:95757698 [GRCh37]
Chr5:5q15		 benign
NM_000439.5(PCSK1):c.2129C>G (p.Pro710Arg) single nucleotide variant not specified [RCV001819596] Chr5:96393134 [GRCh38]
Chr5:95728838 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.397-18G>A single nucleotide variant not provided [RCV002148789] Chr5:96423477 [GRCh38]
Chr5:95759181 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.280G>A (p.Asp94Asn) single nucleotide variant not provided [RCV002275437] Chr5:96429218 [GRCh38]
Chr5:95764922 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.595C>T (p.Arg199Ter) single nucleotide variant Obesity due to prohormone convertase I deficiency [RCV002291323] Chr5:96421905 [GRCh38]
Chr5:95757609 [GRCh37]
Chr5:5q15		 pathogenic
NM_000439.5(PCSK1):c.1381G>A (p.Val461Met) single nucleotide variant Body mass index quantitative trait locus 12 [RCV002468439]|PCSK1-related condition [RCV003943411] Chr5:96400002 [GRCh38]
Chr5:95735706 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1951G>A (p.Val651Ile) single nucleotide variant Inborn genetic diseases [RCV002869511] Chr5:96393312 [GRCh38]
Chr5:95729016 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1723-12C>T single nucleotide variant not provided [RCV002574391] Chr5:96395037 [GRCh38]
Chr5:95730741 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.868T>C (p.Tyr290His) single nucleotide variant not provided [RCV002598211] Chr5:96412332 [GRCh38]
Chr5:95748036 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1712T>A (p.Ile571Asn) single nucleotide variant Inborn genetic diseases [RCV003195675] Chr5:96397346 [GRCh38]
Chr5:95733050 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1124C>T (p.Thr375Met) single nucleotide variant Inborn genetic diseases [RCV003351364] Chr5:96408295 [GRCh38]
Chr5:95743999 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.233G>A (p.Arg78Lys) single nucleotide variant PCSK1-related condition [RCV003412255] Chr5:96429265 [GRCh38]
Chr5:95764969 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.150C>G (p.Ala50=) single nucleotide variant not provided [RCV003882607] Chr5:96432893 [GRCh38]
Chr5:95768597 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1723-9A>G single nucleotide variant PCSK1-related condition [RCV003919287]|not provided [RCV003556904] Chr5:96395034 [GRCh38]
Chr5:95730738 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.2034C>T (p.Asn678=) single nucleotide variant not provided [RCV003560345] Chr5:96393229 [GRCh38]
Chr5:95728933 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.834G>A (p.Glu278=) single nucleotide variant not provided [RCV003849742] Chr5:96412366 [GRCh38]
Chr5:95748070 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.620+11A>G single nucleotide variant not provided [RCV003858089] Chr5:96421869 [GRCh38]
Chr5:95757573 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.181-9C>T single nucleotide variant not provided [RCV003869363] Chr5:96429326 [GRCh38]
Chr5:95765030 [GRCh37]
Chr5:5q15		 likely benign
GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1 copy number loss not specified [RCV003986577] Chr5:93828571..123711334 [GRCh37]
Chr5:5q15-23.2		 pathogenic
NM_000439.5(PCSK1):c.1059C>G (p.Thr353=) single nucleotide variant not provided [RCV003863800] Chr5:96410810 [GRCh38]
Chr5:95746514 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1380C>T (p.Ser460=) single nucleotide variant PCSK1-related condition [RCV003904367] Chr5:96400003 [GRCh38]
Chr5:95735707 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1431-9T>C single nucleotide variant PCSK1-related condition [RCV003931738] Chr5:96399045 [GRCh38]
Chr5:95734749 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.28T>G (p.Cys10Gly) single nucleotide variant PCSK1-related condition [RCV003939769] Chr5:96433015 [GRCh38]
Chr5:95768719 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1083C>T (p.Thr361=) single nucleotide variant PCSK1-related condition [RCV003956838] Chr5:96410786 [GRCh38]
Chr5:95746490 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1096-9G>A single nucleotide variant PCSK1-related condition [RCV003959539] Chr5:96408332 [GRCh38]
Chr5:95744036 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1196+8C>A single nucleotide variant PCSK1-related condition [RCV003964783] Chr5:96408215 [GRCh38]
Chr5:95743919 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1176C>T (p.Phe392=) single nucleotide variant PCSK1-related condition [RCV003976981] Chr5:96408243 [GRCh38]
Chr5:95743947 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.921G>A (p.Ser307=) single nucleotide variant PCSK1-related condition [RCV003901517] Chr5:96410948 [GRCh38]
Chr5:95746652 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.380A>T (p.Asn127Ile) single nucleotide variant PCSK1-related condition [RCV003901650] Chr5:96425836 [GRCh38]
Chr5:95761540 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1621C>T (p.Arg541Trp) single nucleotide variant PCSK1-related condition [RCV003924272] Chr5:96397437 [GRCh38]
Chr5:95733141 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1501A>C (p.Ile501Leu) single nucleotide variant PCSK1-related condition [RCV003934437] Chr5:96398966 [GRCh38]
Chr5:95734670 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.2076G>C (p.Lys692Asn) single nucleotide variant PCSK1-related condition [RCV003934456] Chr5:96393187 [GRCh38]
Chr5:95728891 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.613G>A (p.Glu205Lys) single nucleotide variant PCSK1-related condition [RCV003939390] Chr5:96421887 [GRCh38]
Chr5:95757591 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1776C>T (p.His592=) single nucleotide variant PCSK1-related condition [RCV003949246] Chr5:96394972 [GRCh38]
Chr5:95730676 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.281A>G (p.Asp94Gly) single nucleotide variant PCSK1-related condition [RCV003959250] Chr5:96429217 [GRCh38]
Chr5:95764921 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1461T>C (p.Ile487=) single nucleotide variant PCSK1-related condition [RCV003974493] Chr5:96399006 [GRCh38]
Chr5:95734710 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1746A>C (p.Gly582=) single nucleotide variant PCSK1-related condition [RCV003894125] Chr5:96395002 [GRCh38]
Chr5:95730706 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1061C>G (p.Ser354Cys) single nucleotide variant PCSK1-related condition [RCV003901504] Chr5:96410808 [GRCh38]
Chr5:95746512 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.819T>C (p.Asp273=) single nucleotide variant PCSK1-related condition [RCV003901797] Chr5:96412381 [GRCh38]
Chr5:95748085 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.129G>C (p.Pro43=) single nucleotide variant PCSK1-related condition [RCV003909775] Chr5:96432914 [GRCh38]
Chr5:95768618 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1131G>A (p.Thr377=) single nucleotide variant PCSK1-related condition [RCV003912005] Chr5:96408288 [GRCh38]
Chr5:95743992 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1014C>T (p.Gly338=) single nucleotide variant PCSK1-related condition [RCV003961442] Chr5:96410855 [GRCh38]
Chr5:95746559 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1783T>G (p.Ser595Ala) single nucleotide variant PCSK1-related condition [RCV003962094] Chr5:96394965 [GRCh38]
Chr5:95730669 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.2162A>G (p.Tyr721Cys) single nucleotide variant PCSK1-related condition [RCV003974024] Chr5:96393101 [GRCh38]
Chr5:95728805 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.125G>A (p.Gly42Asp) single nucleotide variant PCSK1-related condition [RCV003939801] Chr5:96432918 [GRCh38]
Chr5:95768622 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_000439.5(PCSK1):c.1950C>T (p.Ser650=) single nucleotide variant PCSK1-related condition [RCV003944708] Chr5:96393313 [GRCh38]
Chr5:95729017 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.374T>A (p.Met125Lys) single nucleotide variant PCSK1-related condition [RCV003949364] Chr5:96425842 [GRCh38]
Chr5:95761546 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.354A>G (p.Leu118=) single nucleotide variant PCSK1-related condition [RCV003951371] Chr5:96425862 [GRCh38]
Chr5:95761566 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.795T>C (p.Ser265=) single nucleotide variant PCSK1-related condition [RCV003898925] Chr5:96412405 [GRCh38]
Chr5:95748109 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1824G>T (p.Thr608=) single nucleotide variant PCSK1-related condition [RCV003979171] Chr5:96394924 [GRCh38]
Chr5:95730628 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.2214C>T (p.Asp738=) single nucleotide variant PCSK1-related condition [RCV003894766] Chr5:96393049 [GRCh38]
Chr5:95728753 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.282T>C (p.Asp94=) single nucleotide variant PCSK1-related condition [RCV003896353] Chr5:96429216 [GRCh38]
Chr5:95764920 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1401T>C (p.Cys467=) single nucleotide variant PCSK1-related condition [RCV003896415] Chr5:96399982 [GRCh38]
Chr5:95735686 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.498G>A (p.Leu166=) single nucleotide variant PCSK1-related condition [RCV003899303] Chr5:96423358 [GRCh38]
Chr5:95759062 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.754A>G (p.Ser252Gly) single nucleotide variant PCSK1-related condition [RCV003901867] Chr5:96412446 [GRCh38]
Chr5:95748150 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1168G>A (p.Gly390Ser) single nucleotide variant PCSK1-related condition [RCV003901767] Chr5:96408251 [GRCh38]
Chr5:95743955 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.180+742A>G single nucleotide variant PCSK1-related condition [RCV003904132] Chr5:96432121 [GRCh38]
Chr5:95767825 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.1807C>T (p.Gln603Ter) single nucleotide variant PCSK1-related condition [RCV003914750] Chr5:96394941 [GRCh38]
Chr5:95730645 [GRCh37]
Chr5:5q15		 uncertain significance
NM_000439.5(PCSK1):c.2076G>A (p.Lys692=) single nucleotide variant PCSK1-related condition [RCV003978953] Chr5:96393187 [GRCh38]
Chr5:95728891 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.1125G>A (p.Thr375=) single nucleotide variant not provided [RCV003880593] Chr5:96408294 [GRCh38]
Chr5:95743998 [GRCh37]
Chr5:5q15		 likely benign
NM_000439.5(PCSK1):c.844C>T (p.Arg282Trp) single nucleotide variant PCSK1-related condition [RCV003982495] Chr5:96412356 [GRCh38]
Chr5:95748060 [GRCh37]
Chr5:5q15		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1295
Count of miRNA genes:798
Interacting mature miRNAs:917
Transcripts:ENST00000311106, ENST00000508626, ENST00000509190, ENST00000513085
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH81073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37595,726,186 - 95,726,392UniSTSGRCh37
Build 36595,751,942 - 95,752,148RGDNCBI36
Celera591,608,206 - 91,608,412RGD
Cytogenetic Map5q15-q21UniSTS
HuRef590,916,184 - 90,916,390UniSTS
GeneMap99-GB4 RH Map5415.74UniSTS
RH92225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37595,769,226 - 95,769,368UniSTSGRCh37
Build 36595,794,982 - 95,795,124RGDNCBI36
Celera591,651,249 - 91,651,391RGD
Cytogenetic Map5q15-q21UniSTS
HuRef590,959,200 - 90,959,342UniSTS
GeneMap99-GB4 RH Map5419.82UniSTS
RH103693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37595,757,786 - 95,757,926UniSTSGRCh37
Build 36595,783,542 - 95,783,682RGDNCBI36
Celera591,639,809 - 91,639,949RGD
Cytogenetic Map5q15-q21UniSTS
HuRef590,947,785 - 90,947,925UniSTS
GeneMap99-GB4 RH Map5419.82UniSTS
G59132  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37595,767,052 - 95,767,352UniSTSGRCh37
Build 36595,792,808 - 95,793,108RGDNCBI36
Celera591,649,075 - 91,649,375RGD
Cytogenetic Map5q15-q21UniSTS
HuRef590,957,026 - 90,957,326UniSTS
TNG Radiation Hybrid Map544055.0UniSTS
G59296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37595,739,886 - 95,740,162UniSTSGRCh37
Build 36595,765,642 - 95,765,918RGDNCBI36
Celera591,621,907 - 91,622,183RGD
Cytogenetic Map5q15-q21UniSTS
HuRef590,929,885 - 90,930,161UniSTS
TNG Radiation Hybrid Map544038.0UniSTS
SHGC-112327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37595,739,847 - 95,740,124UniSTSGRCh37
Build 36595,765,603 - 95,765,880RGDNCBI36
Celera591,621,868 - 91,622,145RGD
Cytogenetic Map5q15-q21UniSTS
HuRef590,929,846 - 90,930,123UniSTS
TNG Radiation Hybrid Map544023.0UniSTS
PCSK1_1012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37595,727,673 - 95,728,507UniSTSGRCh37
Build 36595,753,429 - 95,754,263RGDNCBI36
Celera591,609,693 - 91,610,528RGD
HuRef590,917,671 - 90,918,505UniSTS
STS-X64810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37595,728,464 - 95,728,690UniSTSGRCh37
Build 36595,754,220 - 95,754,446RGDNCBI36
Celera591,610,485 - 91,610,711RGD
Cytogenetic Map5q15-q21UniSTS
HuRef590,918,462 - 90,918,688UniSTS
GeneMap99-GB4 RH Map5415.1UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1 1 2
Medium 28 165 310 14 2 1 196 15 821 3 15 139 13 57 132
Low 1187 1205 612 137 226 12 2155 408 2006 88 456 704 132 1 695 1330
Below cutoff 1135 1277 687 371 1069 348 1928 1671 882 248 907 688 28 451 1278 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D73407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA192592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M90753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U24128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X64810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311106   ⟹   ENSP00000308024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,390,333 - 96,433,248 (-)Ensembl
RefSeq Acc Id: ENST00000508626   ⟹   ENSP00000421600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,392,927 - 96,432,160 (-)Ensembl
RefSeq Acc Id: ENST00000509190   ⟹   ENSP00000427294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,423,383 - 96,434,143 (-)Ensembl
RefSeq Acc Id: ENST00000513085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl596,392,925 - 96,412,985 (-)Ensembl
RefSeq Acc Id: NM_000439   ⟹   NP_000430
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,390,333 - 96,433,248 (-)NCBI
GRCh37595,726,040 - 95,768,985 (-)ENTREZGENE
Build 36595,751,875 - 95,794,708 (-)NCBI Archive
HuRef590,916,038 - 90,958,959 (-)ENTREZGENE
CHM1_1595,158,671 - 95,201,600 (-)NCBI
T2T-CHM13v2.0596,891,318 - 96,934,221 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001177875   ⟹   NP_001171346
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,390,333 - 96,432,160 (-)NCBI
GRCh37595,726,040 - 95,768,985 (-)ENTREZGENE
HuRef590,916,038 - 90,958,959 (-)ENTREZGENE
CHM1_1595,158,671 - 95,200,478 (-)NCBI
T2T-CHM13v2.0596,891,318 - 96,933,133 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000430   ⟸   NM_000439
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P78478 (UniProtKB/Swiss-Prot),   E9PHA1 (UniProtKB/Swiss-Prot),   B7Z8T7 (UniProtKB/Swiss-Prot),   Q92532 (UniProtKB/Swiss-Prot),   P29120 (UniProtKB/Swiss-Prot),   A1L3V6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171346   ⟸   NM_001177875
- Peptide Label: isoform 2
- UniProtKB: Q59H85 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000421600   ⟸   ENST00000508626
RefSeq Acc Id: ENSP00000427294   ⟸   ENST00000509190
RefSeq Acc Id: ENSP00000308024   ⟸   ENST00000311106
Protein Domains
P/Homo B   Peptidase S8   Peptidase S8 pro-domain

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29120-F1-model_v2 AlphaFold P29120 1-753 view protein structure

Promoters
RGD ID:6870136
Promoter ID:EPDNEW_H8233
Type:initiation region
Name:PCSK1_2
Description:proprotein convertase subtilisin/kexin type 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8234  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,412,982 - 96,413,042EPDNEW
RGD ID:6870138
Promoter ID:EPDNEW_H8234
Type:initiation region
Name:PCSK1_1
Description:proprotein convertase subtilisin/kexin type 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8233  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38596,433,248 - 96,433,308EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8743 AgrOrtholog
COSMIC PCSK1 COSMIC
Ensembl Genes ENSG00000175426 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000311106 ENTREZGENE
  ENST00000311106.8 UniProtKB/Swiss-Prot
  ENST00000508626 ENTREZGENE
  ENST00000508626.5 UniProtKB/Swiss-Prot
  ENST00000509190.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.850 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.3320 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175426 GTEx
HGNC ID HGNC:8743 ENTREZGENE
Human Proteome Map PCSK1 Human Proteome Map
InterPro Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kexin/furin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8/S53_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8/S53_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8_Asp-AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8_His-AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8_Ser-AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8_subtilisin-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proho_convert UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S8_pro-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S8_pro-domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5122 UniProtKB/Swiss-Prot
NCBI Gene 5122 ENTREZGENE
OMIM 162150 OMIM
PANTHER NEUROENDOCRINE CONVERTASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROPROTEIN CONVERTASE SUBTILISIN/KEXIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam P_proprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Proho_convert UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S8_pro-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33089 PharmGKB
PRINTS SUBTILISIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE P_HOMO_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUBTILASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUBTILASE_ASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUBTILASE_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUBTILASE_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Protease propeptides/inhibitors UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52743 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1L3V6 ENTREZGENE, UniProtKB/TrEMBL
  B7Z8T7 ENTREZGENE
  D6RJA3_HUMAN UniProtKB/TrEMBL
  E9PHA1 ENTREZGENE
  NEC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P78478 ENTREZGENE
  Q59H85 ENTREZGENE, UniProtKB/TrEMBL
  Q92532 ENTREZGENE
UniProt Secondary B7Z8T7 UniProtKB/Swiss-Prot
  E9PHA1 UniProtKB/Swiss-Prot
  P78478 UniProtKB/Swiss-Prot
  Q92532 UniProtKB/Swiss-Prot