CORIN (corin, serine peptidase) - Rat Genome Database

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Gene: CORIN (corin, serine peptidase) Homo sapiens
Analyze
Symbol: CORIN
Name: corin, serine peptidase
RGD ID: 1343750
HGNC Page HGNC:19012
Description: Enables serine-type endopeptidase activity. Involved in female pregnancy; peptide hormone processing; and regulation of systemic arterial blood pressure by atrial natriuretic peptide. Located in actin cytoskeleton; nuclear body; and plasma membrane. Implicated in familial hypertrophic cardiomyopathy; hypertension; and pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATC2; atrial natriuretic peptide-converting enzyme; atrial natriuteric peptide-converting enzyme; CMH30; corin, serine protease; CRN; heart specific serine proteinase; heart-specific serine proteinase ATC2; Lrp4; MGC119742; PEE5; pro-ANP-convertase; pro-ANP-converting enzyme; TMPRSS10; transmembrane protease serine 10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38447,594,001 - 47,838,067 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl447,593,999 - 47,838,106 (-)EnsemblGRCh38hg38GRCh38
GRCh37447,596,018 - 47,840,084 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36447,290,775 - 47,534,816 (-)NCBINCBI36Build 36hg18NCBI36
Build 34447,436,945 - 47,680,987NCBI
Celera448,045,262 - 48,288,937 (-)NCBICelera
Cytogenetic Map4p12NCBI
HuRef446,915,569 - 47,159,628 (-)NCBIHuRef
CHM1_1447,594,966 - 47,839,077 (-)NCBICHM1_1
T2T-CHM13v2.0447,561,341 - 47,805,399 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cypermethrin  (ISO)
daunorubicin  (EXP)
decabromodiphenyl ether  (EXP)
diarsenic trioxide  (EXP)
dichloroacetic acid  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
fulvestrant  (EXP)
furan  (ISO)
isoprenaline  (ISO)
mercaptopurine  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
mitoxantrone  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
parathion  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP)
purine-6-thiol  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (ISO)
testosterone undecanoate  (EXP)
Tetrachlorobisphenol A  (EXP)
titanium dioxide  (ISO)
triadimefon  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)

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. Corin gene minor allele defined by 2 missense mutations is common in blacks and associated with high blood pressure and hypertension. Dries DL, etal., Circulation. 2005 Oct 18;112(16):2403-10. Epub 2005 Oct 10.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Rat corin gene: molecular cloning and reduced expression in experimental heart failure. Langenickel TH, etal., Am J Physiol Heart Circ Physiol. 2004 Oct;287(4):H1516-21. Epub 2004 May 20.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Upregulation of corin gene expression in hypertrophic cardiomyocytes and failing myocardium. Tran KL, etal., Am J Physiol Heart Circ Physiol. 2004 Oct;287(4):H1625-31. Epub 2004 Jun 10.
9. The serine protease corin in cardiovascular biology and disease. Wu Q Front Biosci. 2007 May 1;12:4179-90.
Additional References at PubMed
PMID:10329693   PMID:10880574   PMID:11082206   PMID:11884416   PMID:12154094   PMID:12477932   PMID:14559895   PMID:15192093   PMID:15489334   PMID:17296875   PMID:17660514   PMID:17890485  
PMID:18669922   PMID:19326473   PMID:19460752   PMID:19913121   PMID:19919978   PMID:20489134   PMID:20613715   PMID:20628086   PMID:20670840   PMID:20802129   PMID:21216831   PMID:21288900  
PMID:21518754   PMID:21763278   PMID:21873635   PMID:22093942   PMID:22437503   PMID:22987923   PMID:23327554   PMID:23372161   PMID:23434834   PMID:24015598   PMID:24100222   PMID:24828501  
PMID:25451932   PMID:25474356   PMID:25488193   PMID:25516437   PMID:25649697   PMID:25663063   PMID:25981578   PMID:26022632   PMID:26048191   PMID:26086065   PMID:26259032   PMID:26344336  
PMID:26488448   PMID:26577631   PMID:27343265   PMID:27871468   PMID:27898523   PMID:28005267   PMID:28714548   PMID:28861913   PMID:28985241   PMID:29180304   PMID:29370493   PMID:29391274  
PMID:29523263   PMID:30195494   PMID:30352487   PMID:30580684   PMID:30765878   PMID:31856714   PMID:32296183   PMID:32719113   PMID:32828311   PMID:33125488   PMID:34369881   PMID:34592835  
PMID:34846782   PMID:35199942   PMID:35861835   PMID:37913506   PMID:38417305   PMID:38657259   PMID:38925326   PMID:38942727  


Genomics

Comparative Map Data
CORIN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38447,594,001 - 47,838,067 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl447,593,999 - 47,838,106 (-)EnsemblGRCh38hg38GRCh38
GRCh37447,596,018 - 47,840,084 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36447,290,775 - 47,534,816 (-)NCBINCBI36Build 36hg18NCBI36
Build 34447,436,945 - 47,680,987NCBI
Celera448,045,262 - 48,288,937 (-)NCBICelera
Cytogenetic Map4p12NCBI
HuRef446,915,569 - 47,159,628 (-)NCBIHuRef
CHM1_1447,594,966 - 47,839,077 (-)NCBICHM1_1
T2T-CHM13v2.0447,561,341 - 47,805,399 (-)NCBIT2T-CHM13v2.0
Corin
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39572,457,291 - 72,661,884 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl572,457,368 - 72,661,816 (-)EnsemblGRCm39 Ensembl
GRCm38572,299,948 - 72,504,540 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl572,300,025 - 72,504,473 (-)EnsemblGRCm38mm10GRCm38
MGSCv37572,691,264 - 72,895,779 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36572,579,161 - 72,783,343 (-)NCBIMGSCv36mm8
Celera569,553,363 - 69,759,090 (-)NCBICelera
Cytogenetic Map5C3.2NCBI
cM Map538.44NCBI
Corin
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81436,034,613 - 36,264,671 (+)NCBIGRCr8
mRatBN7.21435,680,601 - 35,910,703 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1435,681,304 - 35,909,503 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1436,046,467 - 36,253,208 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01437,351,221 - 37,557,958 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01435,839,588 - 36,046,301 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01438,247,379 - 38,474,931 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1438,247,791 - 38,473,648 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01438,103,553 - 38,135,786 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01438,058,862 - 38,064,976 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01438,163,662 - 38,284,564 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41438,109,932 - 38,339,631 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11438,113,281 - 38,342,022 (+)NCBI
Celera1434,932,916 - 35,141,793 (+)NCBICelera
Cytogenetic Map14p11NCBI
Corin
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955443722,201 - 969,014 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955443721,655 - 970,600 (+)NCBIChiLan1.0ChiLan1.0
CORIN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2380,022,875 - 80,265,634 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1480,284,385 - 80,529,361 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0474,311,036 - 74,555,742 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1485,043,182 - 85,286,573 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl485,043,182 - 85,286,573 (+)Ensemblpanpan1.1panPan2
CORIN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11343,501,287 - 43,737,522 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1343,502,665 - 43,737,813 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1343,450,870 - 43,689,393 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01344,105,939 - 44,336,477 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1344,106,274 - 44,336,490 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11343,785,410 - 44,014,315 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01343,450,913 - 43,546,489 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01344,200,216 - 44,429,325 (-)NCBIUU_Cfam_GSD_1.0
Corin
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528532,298,699 - 32,556,998 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648213,743,433 - 13,999,348 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648213,782,571 - 13,999,561 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CORIN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl837,530,815 - 37,809,761 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1837,530,812 - 37,811,226 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2839,515,890 - 39,787,648 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CORIN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1272,407,451 - 2,662,855 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl272,408,219 - 2,662,279 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604748,427,060 - 48,704,165 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Corin
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476119,089,424 - 19,404,952 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476119,089,111 - 19,404,148 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CORIN
137 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006587.4(CORIN):c.949A>G (p.Lys317Glu) single nucleotide variant Preeclampsia/eclampsia 5 [RCV000023403] Chr4:47683803 [GRCh38]
Chr4:47685820 [GRCh37]
Chr4:4p12
pathogenic
NM_006587.4(CORIN):c.1414A>G (p.Ser472Gly) single nucleotide variant Preeclampsia/eclampsia 5 [RCV000023404] Chr4:47665207 [GRCh38]
Chr4:47667224 [GRCh37]
Chr4:4p12
pathogenic
NM_006587.4(CORIN):c.1615C>T (p.Arg539Cys) single nucleotide variant Variant of unknown significance [RCV000034349]|not provided [RCV000487766] Chr4:47661831 [GRCh38]
Chr4:47663848 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.3(CORIN):c.800-1704C>A single nucleotide variant Lung cancer [RCV000094857] Chr4:47694787 [GRCh38]
Chr4:47696804 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.3(CORIN):c.800-1954G>T single nucleotide variant Lung cancer [RCV000094858] Chr4:47695037 [GRCh38]
Chr4:47697054 [GRCh37]
Chr4:4p12
uncertain significance
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 copy number gain See cases [RCV000050683] Chr4:44356201..62245882 [GRCh38]
Chr4:44358218..63111600 [GRCh37]
Chr4:44052975..62794195 [NCBI36]
Chr4:4p13-q13.1
pathogenic
GRCh38/hg38 4p13-11(chr4:44577678-49081273)x3 copy number gain See cases [RCV000051770] Chr4:44577678..49081273 [GRCh38]
Chr4:44579695..49083290 [GRCh37]
Chr4:44274452..48778047 [NCBI36]
Chr4:4p13-11
pathogenic
NM_006587.3(CORIN):c.1861C>T (p.Leu621Phe) single nucleotide variant Malignant melanoma [RCV000066440] Chr4:47645177 [GRCh38]
Chr4:47647194 [GRCh37]
Chr4:47341951 [NCBI36]
Chr4:4p12
not provided
NM_006587.3(CORIN):c.525C>T (p.Phe175=) single nucleotide variant Malignant melanoma [RCV000066441] Chr4:47763471 [GRCh38]
Chr4:47765488 [GRCh37]
Chr4:47460245 [NCBI36]
Chr4:4p12
not provided
NM_020453.3(ATP10D):c.4169C>T (p.Ser1390Phe) single nucleotide variant Malignant melanoma [RCV000066439] Chr4:47591269 [GRCh38]
Chr4:47593286 [GRCh37]
Chr4:47288043 [NCBI36]
Chr4:4p12
not provided
NM_006587.4(CORIN):c.1400C>G (p.Pro467Arg) single nucleotide variant Malignant tumor of prostate [RCV000149184] Chr4:47665221 [GRCh38]
Chr4:47667238 [GRCh37]
Chr4:4p12
uncertain significance
GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3 copy number gain See cases [RCV000134946] Chr4:40496476..49579850 [GRCh38]
Chr4:40498493..49581867 [GRCh37]
Chr4:40193250..49276624 [NCBI36]
Chr4:4p14-11
pathogenic
GRCh38/hg38 4p12-11(chr4:47383124-48851860)x3 copy number gain See cases [RCV000138576] Chr4:47383124..48851860 [GRCh38]
Chr4:47385141..48853877 [GRCh37]
Chr4:47079898..48548634 [NCBI36]
Chr4:4p12-11
uncertain significance
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 copy number gain See cases [RCV000240190] Chr4:38532827..49064044 [GRCh37]
Chr4:4p14-11
pathogenic
NM_006587.4(CORIN):c.1081G>A (p.Val361Met) single nucleotide variant Inborn genetic diseases [RCV004027139]|not provided [RCV000757132] Chr4:47680192 [GRCh38]
Chr4:47682209 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1061G>A (p.Arg354His) single nucleotide variant not provided [RCV000757133] Chr4:47680212 [GRCh38]
Chr4:47682229 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_006587.4(CORIN):c.835A>G (p.Ser279Gly) single nucleotide variant Inborn genetic diseases [RCV003245404] Chr4:47693048 [GRCh38]
Chr4:47695065 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.8dup (p.Ser4fs) duplication Preeclampsia/eclampsia 5 [RCV000490467]|not provided [RCV000890767] Chr4:47837941..47837942 [GRCh38]
Chr4:47839958..47839959 [GRCh37]
Chr4:4p12
benign|uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p12(chr4:47488430-47906770)x3 copy number gain See cases [RCV000448158] Chr4:47488430..47906770 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_006587.4(CORIN):c.1624T>A (p.Ser542Thr) single nucleotide variant not provided [RCV000506762] Chr4:47661822 [GRCh38]
Chr4:47663839 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
NM_006587.4(CORIN):c.1147G>T (p.Gly383Cys) single nucleotide variant Inborn genetic diseases [RCV003242489] Chr4:47678040 [GRCh38]
Chr4:47680057 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1098C>A (p.His366Gln) single nucleotide variant Inborn genetic diseases [RCV003286994] Chr4:47680175 [GRCh38]
Chr4:47682192 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2096C>T (p.Ser699Phe) single nucleotide variant Inborn genetic diseases [RCV003290070] Chr4:47642022 [GRCh38]
Chr4:47644039 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p12(chr4:47720495-47828850)x1 copy number loss not provided [RCV000682398] Chr4:47720495..47828850 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p12(chr4:47828849-48182073)x1 copy number loss not provided [RCV000682399] Chr4:47828849..48182073 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p12(chr4:47672301-47676489)x1 copy number loss not provided [RCV000743563] Chr4:47672301..47676489 [GRCh37]
Chr4:4p12
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_006587.4(CORIN):c.2218T>C (p.Leu740=) single nucleotide variant not provided [RCV001532020] Chr4:47626502 [GRCh38]
Chr4:47628519 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.1033A>G (p.Thr345Ala) single nucleotide variant not provided [RCV000755983] Chr4:47680240 [GRCh38]
Chr4:47682257 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2375G>A (p.Arg792His) single nucleotide variant not provided [RCV000948678] Chr4:47623736 [GRCh38]
Chr4:47625753 [GRCh37]
Chr4:4p12
benign
NM_006587.4(CORIN):c.28G>A (p.Glu10Lys) single nucleotide variant CORIN-related disorder [RCV003935893]|not provided [RCV000958534] Chr4:47837922 [GRCh38]
Chr4:47839939 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.618-3dup duplication not provided [RCV000950119] Chr4:47744585..47744586 [GRCh38]
Chr4:47746602..47746603 [GRCh37]
Chr4:4p12
benign
NM_006587.4(CORIN):c.2289C>T (p.Thr763=) single nucleotide variant not provided [RCV000966330] Chr4:47626431 [GRCh38]
Chr4:47628448 [GRCh37]
Chr4:4p12
benign
NM_006587.4(CORIN):c.1573C>T (p.His525Tyr) single nucleotide variant not provided [RCV000880429] Chr4:47665048 [GRCh38]
Chr4:47667065 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.617+7C>T single nucleotide variant not provided [RCV000966913] Chr4:47763372 [GRCh38]
Chr4:47765389 [GRCh37]
Chr4:4p12
benign
NM_006587.4(CORIN):c.1703A>C (p.Gln568Pro) single nucleotide variant not provided [RCV000966911] Chr4:47661743 [GRCh38]
Chr4:47663760 [GRCh37]
Chr4:4p12
benign
NM_006587.4(CORIN):c.2805C>A (p.Gly935=) single nucleotide variant not provided [RCV000966910] Chr4:47603404 [GRCh38]
Chr4:47605421 [GRCh37]
Chr4:4p12
benign
NM_006587.4(CORIN):c.2598A>T (p.Pro866=) single nucleotide variant not provided [RCV000970108] Chr4:47603611 [GRCh38]
Chr4:47605628 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.1188G>A (p.Thr396=) single nucleotide variant not provided [RCV000959583] Chr4:47677999 [GRCh38]
Chr4:47680016 [GRCh37]
Chr4:4p12
benign|likely benign
NM_006587.4(CORIN):c.1664C>T (p.Thr555Ile) single nucleotide variant not provided [RCV000966912] Chr4:47661782 [GRCh38]
Chr4:47663799 [GRCh37]
Chr4:4p12
benign
NM_006587.4(CORIN):c.1001T>G (p.Leu334Trp) single nucleotide variant not provided [RCV000907980] Chr4:47683751 [GRCh38]
Chr4:47685768 [GRCh37]
Chr4:4p12
benign
NM_006587.4(CORIN):c.2199-7G>A single nucleotide variant not provided [RCV000893015] Chr4:47626528 [GRCh38]
Chr4:47628545 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.1203T>C (p.Gly401=) single nucleotide variant not provided [RCV000889467] Chr4:47677984 [GRCh38]
Chr4:47680001 [GRCh37]
Chr4:4p12
benign
NM_006587.4(CORIN):c.1133-10T>C single nucleotide variant not provided [RCV000889468] Chr4:47678064 [GRCh38]
Chr4:47680081 [GRCh37]
Chr4:4p12
benign
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3 copy number gain Autism [RCV000993707] Chr4:45868775..48273513 [GRCh37]
Chr4:4p12-11
likely pathogenic
GRCh37/hg19 4p12(chr4:47618736-47895086)x3 copy number gain not provided [RCV001005539] Chr4:47618736..47895086 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_006587.4(CORIN):c.2047A>T (p.Ser683Cys) single nucleotide variant Preeclampsia/eclampsia 5 [RCV001001686]|not provided [RCV004711500] Chr4:47643167 [GRCh38]
Chr4:47645184 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.1156G>T (p.Glu386Ter) single nucleotide variant Preeclampsia/eclampsia 5 [RCV001329588] Chr4:47678031 [GRCh38]
Chr4:47680048 [GRCh37]
Chr4:4p12
pathogenic
NM_006587.4(CORIN):c.529T>C (p.Tyr177His) single nucleotide variant Inborn genetic diseases [RCV004610838] Chr4:47763467 [GRCh38]
Chr4:47765484 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2417G>A (p.Arg806Gln) single nucleotide variant Inborn genetic diseases [RCV004610831] Chr4:47623694 [GRCh38]
Chr4:47625711 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2246G>A (p.Arg749Gln) single nucleotide variant Inborn genetic diseases [RCV004610832] Chr4:47626474 [GRCh38]
Chr4:47628491 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.2967dup (p.Val990fs) duplication Preeclampsia/eclampsia 5 [RCV001334569] Chr4:47595882..47595883 [GRCh38]
Chr4:47597899..47597900 [GRCh37]
Chr4:4p12
pathogenic
NM_006587.4(CORIN):c.2068+64G>A single nucleotide variant Preeclampsia/eclampsia 5 [RCV001329589] Chr4:47643082 [GRCh38]
Chr4:47645099 [GRCh37]
Chr4:4p12
pathogenic
GRCh37/hg19 4p12(chr4:47488430-47906770) copy number gain not specified [RCV002053417] Chr4:47488430..47906770 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2068+102C>T single nucleotide variant CORIN-related disorder [RCV003973371]|not provided [RCV002263343] Chr4:47643044 [GRCh38]
Chr4:47645061 [GRCh37]
Chr4:4p12
benign
NM_006587.4(CORIN):c.1853A>G (p.Glu618Gly) single nucleotide variant Inborn genetic diseases [RCV003299830] Chr4:47645185 [GRCh38]
Chr4:47647202 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1051G>T (p.Gly351Trp) single nucleotide variant Inborn genetic diseases [RCV003262181] Chr4:47680222 [GRCh38]
Chr4:47682239 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.729T>G (p.Phe243Leu) single nucleotide variant Inborn genetic diseases [RCV002772263] Chr4:47744472 [GRCh38]
Chr4:47746489 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2581A>T (p.Asn861Tyr) single nucleotide variant Inborn genetic diseases [RCV002817387] Chr4:47603628 [GRCh38]
Chr4:47605645 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.815G>A (p.Gly272Asp) single nucleotide variant Inborn genetic diseases [RCV002739013] Chr4:47693068 [GRCh38]
Chr4:47695085 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.116C>T (p.Ala39Val) single nucleotide variant Inborn genetic diseases [RCV002739146] Chr4:47806995 [GRCh38]
Chr4:47809012 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1795T>C (p.Cys599Arg) single nucleotide variant Inborn genetic diseases [RCV002694746] Chr4:47653601 [GRCh38]
Chr4:47655618 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2989C>T (p.Arg997Trp) single nucleotide variant Inborn genetic diseases [RCV002758672] Chr4:47595861 [GRCh38]
Chr4:47597878 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.133C>T (p.Arg45Trp) single nucleotide variant Inborn genetic diseases [RCV002951214] Chr4:47806978 [GRCh38]
Chr4:47808995 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.53C>G (p.Ser18Cys) single nucleotide variant Inborn genetic diseases [RCV002980780] Chr4:47837897 [GRCh38]
Chr4:47839914 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1091G>A (p.Gly364Asp) single nucleotide variant Inborn genetic diseases [RCV002799926] Chr4:47680182 [GRCh38]
Chr4:47682199 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2095T>A (p.Ser699Thr) single nucleotide variant Inborn genetic diseases [RCV002910461] Chr4:47642023 [GRCh38]
Chr4:47644040 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.122C>G (p.Ala41Gly) single nucleotide variant Inborn genetic diseases [RCV002951372] Chr4:47806989 [GRCh38]
Chr4:47809006 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2617C>T (p.Arg873Cys) single nucleotide variant Inborn genetic diseases [RCV002738972] Chr4:47603592 [GRCh38]
Chr4:47605609 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.538C>T (p.Arg180Cys) single nucleotide variant Inborn genetic diseases [RCV002931588] Chr4:47763458 [GRCh38]
Chr4:47765475 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2255C>G (p.Thr752Arg) single nucleotide variant Inborn genetic diseases [RCV002919757] Chr4:47626465 [GRCh38]
Chr4:47628482 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.551A>T (p.Tyr184Phe) single nucleotide variant Inborn genetic diseases [RCV002873429] Chr4:47763445 [GRCh38]
Chr4:47765462 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2918A>G (p.Tyr973Cys) single nucleotide variant Inborn genetic diseases [RCV002664591] Chr4:47600242 [GRCh38]
Chr4:47602259 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1722T>G (p.Asp574Glu) single nucleotide variant Inborn genetic diseases [RCV002875336] Chr4:47661724 [GRCh38]
Chr4:47663741 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.169G>A (p.Ala57Thr) single nucleotide variant Inborn genetic diseases [RCV002742323] Chr4:47806942 [GRCh38]
Chr4:47808959 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1207G>A (p.Glu403Lys) single nucleotide variant Inborn genetic diseases [RCV003006863] Chr4:47677980 [GRCh38]
Chr4:47679997 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.145C>G (p.Leu49Val) single nucleotide variant Inborn genetic diseases [RCV003006725] Chr4:47806966 [GRCh38]
Chr4:47808983 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1069G>T (p.Ala357Ser) single nucleotide variant Inborn genetic diseases [RCV002708769] Chr4:47680204 [GRCh38]
Chr4:47682221 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.610G>A (p.Asp204Asn) single nucleotide variant Inborn genetic diseases [RCV002875509] Chr4:47763386 [GRCh38]
Chr4:47765403 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.782A>G (p.Gln261Arg) single nucleotide variant Inborn genetic diseases [RCV002835404] Chr4:47744419 [GRCh38]
Chr4:47746436 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2558T>G (p.Val853Gly) single nucleotide variant Inborn genetic diseases [RCV002879297] Chr4:47603651 [GRCh38]
Chr4:47605668 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1390A>G (p.Met464Val) single nucleotide variant Inborn genetic diseases [RCV002719274] Chr4:47665231 [GRCh38]
Chr4:47667248 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2846T>C (p.Ile949Thr) single nucleotide variant Inborn genetic diseases [RCV002831220] Chr4:47600314 [GRCh38]
Chr4:47602331 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2947G>A (p.Gly983Ser) single nucleotide variant Inborn genetic diseases [RCV002920873] Chr4:47595903 [GRCh38]
Chr4:47597920 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1769G>T (p.Gly590Val) single nucleotide variant Inborn genetic diseases [RCV002921099] Chr4:47653627 [GRCh38]
Chr4:47655644 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.472C>T (p.Pro158Ser) single nucleotide variant Inborn genetic diseases [RCV002965276] Chr4:47763524 [GRCh38]
Chr4:47765541 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1412C>A (p.Thr471Lys) single nucleotide variant Inborn genetic diseases [RCV002879418] Chr4:47665209 [GRCh38]
Chr4:47667226 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1099G>A (p.Asp367Asn) single nucleotide variant Inborn genetic diseases [RCV002679523] Chr4:47680174 [GRCh38]
Chr4:47682191 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2489G>C (p.Cys830Ser) single nucleotide variant Inborn genetic diseases [RCV003256119] Chr4:47623622 [GRCh38]
Chr4:47625639 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.464C>T (p.Thr155Met) single nucleotide variant Inborn genetic diseases [RCV003191101] Chr4:47763532 [GRCh38]
Chr4:47765549 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2119G>T (p.Ala707Ser) single nucleotide variant Inborn genetic diseases [RCV003210628] Chr4:47641999 [GRCh38]
Chr4:47644016 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.2278C>T (p.Leu760Phe) single nucleotide variant Inborn genetic diseases [RCV003196047] Chr4:47626442 [GRCh38]
Chr4:47628459 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.475C>T (p.Leu159Phe) single nucleotide variant Inborn genetic diseases [RCV003217744] Chr4:47763521 [GRCh38]
Chr4:47765538 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.35G>A (p.Arg12His) single nucleotide variant Inborn genetic diseases [RCV003220647] Chr4:47837915 [GRCh38]
Chr4:47839932 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.410G>T (p.Ser137Ile) single nucleotide variant Inborn genetic diseases [RCV003259799] Chr4:47763586 [GRCh38]
Chr4:47765603 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2186A>C (p.Gln729Pro) single nucleotide variant Inborn genetic diseases [RCV003302289] Chr4:47641932 [GRCh38]
Chr4:47643949 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1763G>A (p.Arg588His) single nucleotide variant Inborn genetic diseases [RCV003174521] Chr4:47653633 [GRCh38]
Chr4:47655650 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1876T>A (p.Ser626Thr) single nucleotide variant Inborn genetic diseases [RCV003221106] Chr4:47645162 [GRCh38]
Chr4:47647179 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2536G>A (p.Glu846Lys) single nucleotide variant Inborn genetic diseases [RCV003218840] Chr4:47623575 [GRCh38]
Chr4:47625592 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.428C>A (p.Thr143Asn) single nucleotide variant Inborn genetic diseases [RCV003264677] Chr4:47763568 [GRCh38]
Chr4:47765585 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2966T>A (p.Leu989His) single nucleotide variant Inborn genetic diseases [RCV003338295] Chr4:47595884 [GRCh38]
Chr4:47597901 [GRCh37]
Chr4:4p12
uncertain significance
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11
pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12
pathogenic
NM_006587.4(CORIN):c.2480T>C (p.Ile827Thr) single nucleotide variant Inborn genetic diseases [RCV003344222] Chr4:47623631 [GRCh38]
Chr4:47625648 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2578A>T (p.Ile860Phe) single nucleotide variant Inborn genetic diseases [RCV003343181] Chr4:47603631 [GRCh38]
Chr4:47605648 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2557G>A (p.Val853Ile) single nucleotide variant Inborn genetic diseases [RCV003377234] Chr4:47603652 [GRCh38]
Chr4:47605669 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2927G>A (p.Gly976Asp) single nucleotide variant Inborn genetic diseases [RCV003349978] Chr4:47600233 [GRCh38]
Chr4:47602250 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2956G>T (p.Gly986Cys) single nucleotide variant Inborn genetic diseases [RCV003370075] Chr4:47595894 [GRCh38]
Chr4:47597911 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p12(chr4:47375627-47618689)x3 copy number gain not provided [RCV003484176] Chr4:47375627..47618689 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.684dup (p.Met229fs) duplication Atrial fibrillation [RCV003388932]|Cardiomyopathy, familial hypertrophic, 30, atrial [RCV003882741] Chr4:47744516..47744517 [GRCh38]
Chr4:47746533..47746534 [GRCh37]
Chr4:4p12
pathogenic
NM_006587.4(CORIN):c.304A>G (p.Ile102Val) single nucleotide variant not provided [RCV003435013] Chr4:47786830 [GRCh38]
Chr4:47788847 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.379C>T (p.Leu127Phe) single nucleotide variant CORIN-related disorder [RCV003976555] Chr4:47786755 [GRCh38]
Chr4:47788772 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.1154T>G (p.Val385Gly) single nucleotide variant Inborn genetic diseases [RCV004372138] Chr4:47678033 [GRCh38]
Chr4:47680050 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.3055G>A (p.Val1019Ile) single nucleotide variant Inborn genetic diseases [RCV004372154] Chr4:47595795 [GRCh38]
Chr4:47597812 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.3118C>G (p.Leu1040Val) single nucleotide variant Inborn genetic diseases [RCV004372156] Chr4:47595732 [GRCh38]
Chr4:47597749 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.368C>T (p.Thr123Met) single nucleotide variant Inborn genetic diseases [RCV004372160] Chr4:47786766 [GRCh38]
Chr4:47788783 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1334C>T (p.Pro445Leu) single nucleotide variant Inborn genetic diseases [RCV004372140] Chr4:47674416 [GRCh38]
Chr4:47676433 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.154A>G (p.Ile52Val) single nucleotide variant Inborn genetic diseases [RCV004372141] Chr4:47806957 [GRCh38]
Chr4:47808974 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2288C>T (p.Thr763Ile) single nucleotide variant Inborn genetic diseases [RCV004372146] Chr4:47626432 [GRCh38]
Chr4:47628449 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2300A>G (p.Glu767Gly) single nucleotide variant Inborn genetic diseases [RCV004372147] Chr4:47626420 [GRCh38]
Chr4:47628437 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2420C>T (p.Thr807Met) single nucleotide variant Inborn genetic diseases [RCV004372149] Chr4:47623691 [GRCh38]
Chr4:47625708 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2761G>A (p.Glu921Lys) single nucleotide variant Inborn genetic diseases [RCV004372151] Chr4:47603448 [GRCh38]
Chr4:47605465 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2842C>T (p.Arg948Cys) single nucleotide variant Inborn genetic diseases [RCV004372152] Chr4:47600318 [GRCh38]
Chr4:47602335 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2843G>A (p.Arg948His) single nucleotide variant Inborn genetic diseases [RCV004372153] Chr4:47600317 [GRCh38]
Chr4:47602334 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.3068T>G (p.Val1023Gly) single nucleotide variant Inborn genetic diseases [RCV004372155] Chr4:47595782 [GRCh38]
Chr4:47597799 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.317G>A (p.Ser106Asn) single nucleotide variant Inborn genetic diseases [RCV004372159] Chr4:47786817 [GRCh38]
Chr4:47788834 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2345C>A (p.Ser782Tyr) single nucleotide variant Inborn genetic diseases [RCV004372148] Chr4:47623919 [GRCh38]
Chr4:47625936 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.315G>C (p.Gln105His) single nucleotide variant Inborn genetic diseases [RCV004372158] Chr4:47786819 [GRCh38]
Chr4:47788836 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.749G>A (p.Ser250Asn) single nucleotide variant Inborn genetic diseases [RCV004372162] Chr4:47744452 [GRCh38]
Chr4:47746469 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.79G>T (p.Asp27Tyr) single nucleotide variant Inborn genetic diseases [RCV004372163] Chr4:47807032 [GRCh38]
Chr4:47809049 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.850C>T (p.Pro284Ser) single nucleotide variant Inborn genetic diseases [RCV004372164] Chr4:47693033 [GRCh38]
Chr4:47695050 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1777G>A (p.Val593Ile) single nucleotide variant Inborn genetic diseases [RCV004372142] Chr4:47653619 [GRCh38]
Chr4:47655636 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1810G>A (p.Asp604Asn) single nucleotide variant Inborn genetic diseases [RCV004372143] Chr4:47653586 [GRCh38]
Chr4:47655603 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2233G>A (p.Glu745Lys) single nucleotide variant Inborn genetic diseases [RCV004372144] Chr4:47626487 [GRCh38]
Chr4:47628504 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2657G>A (p.Arg886Gln) single nucleotide variant Inborn genetic diseases [RCV004372150] Chr4:47603552 [GRCh38]
Chr4:47605569 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.314A>G (p.Gln105Arg) single nucleotide variant Inborn genetic diseases [RCV004372157] Chr4:47786820 [GRCh38]
Chr4:47788837 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.704C>T (p.Pro235Leu) single nucleotide variant Inborn genetic diseases [RCV004372161] Chr4:47744497 [GRCh38]
Chr4:47746514 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2282A>G (p.Asn761Ser) single nucleotide variant Inborn genetic diseases [RCV004372145] Chr4:47626438 [GRCh38]
Chr4:47628455 [GRCh37]
Chr4:4p12
uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_006587.4(CORIN):c.2365+3G>A single nucleotide variant CORIN-related disorder [RCV003909322] Chr4:47623896 [GRCh38]
Chr4:47625913 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.618-4_618-3dup duplication CORIN-related disorder [RCV003904040] Chr4:47744585..47744586 [GRCh38]
Chr4:47746602..47746603 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.738A>G (p.Gln246=) single nucleotide variant CORIN-related disorder [RCV003934010] Chr4:47744463 [GRCh38]
Chr4:47746480 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.2813-4del deletion CORIN-related disorder [RCV003923825] Chr4:47600351 [GRCh38]
Chr4:47602368 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.2068+182C>T single nucleotide variant CORIN-related disorder [RCV003971752] Chr4:47642964 [GRCh38]
Chr4:47644981 [GRCh37]
Chr4:4p12
likely benign
NM_006587.4(CORIN):c.1315G>A (p.Gly439Ser) single nucleotide variant Inborn genetic diseases [RCV004372139] Chr4:47674435 [GRCh38]
Chr4:47676452 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2245C>T (p.Arg749Trp) single nucleotide variant Inborn genetic diseases [RCV004610826] Chr4:47626475 [GRCh38]
Chr4:47628492 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1264C>G (p.Gln422Glu) single nucleotide variant Inborn genetic diseases [RCV004610827] Chr4:47674486 [GRCh38]
Chr4:47676503 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.1157A>T (p.Glu386Val) single nucleotide variant Inborn genetic diseases [RCV004610830] Chr4:47678030 [GRCh38]
Chr4:47680047 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.602T>G (p.Ile201Ser) single nucleotide variant Inborn genetic diseases [RCV004610837] Chr4:47763394 [GRCh38]
Chr4:47765411 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2902A>G (p.Met968Val) single nucleotide variant Inborn genetic diseases [RCV004610833] Chr4:47600258 [GRCh38]
Chr4:47602275 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.857A>G (p.Lys286Arg) single nucleotide variant Inborn genetic diseases [RCV004610834] Chr4:47693026 [GRCh38]
Chr4:47695043 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.2390G>A (p.Arg797Gln) single nucleotide variant Inborn genetic diseases [RCV004610828] Chr4:47623721 [GRCh38]
Chr4:47625738 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.3107T>A (p.Ile1036Asn) single nucleotide variant Inborn genetic diseases [RCV004610835] Chr4:47595743 [GRCh38]
Chr4:47597760 [GRCh37]
Chr4:4p12
uncertain significance
NM_006587.4(CORIN):c.606T>A (p.Asp202Glu) single nucleotide variant Inborn genetic diseases [RCV004610836] Chr4:47763390 [GRCh38]
Chr4:47765407 [GRCh37]
Chr4:4p12
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1999
Count of miRNA genes:961
Interacting mature miRNAs:1169
Transcripts:ENST00000273857, ENST00000502252, ENST00000502726, ENST00000503821, ENST00000504584, ENST00000505754, ENST00000505909, ENST00000508498, ENST00000510974, ENST00000515827
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407083463GWAS732439_Hglycosyl ceramide (d18:1/20:0, d16:1/22:0) measurement QTL GWAS732439 (human)1e-25glycosyl ceramide (d18:1/20:0, d16:1/22:0) measurement44762225147622252Human
407325772GWAS974748_Hceramide measurement QTL GWAS974748 (human)1e-10ceramide measurement44781000947810010Human
407092431GWAS741407_Hglycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement QTL GWAS741407 (human)8e-31glycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement44763684647636847Human
407325771GWAS974747_Hceramide measurement QTL GWAS974747 (human)2e-10ceramide measurement44780014547800146Human
407326036GWAS975012_Hceramide measurement QTL GWAS975012 (human)4e-10ceramide measurement44780014547800146Human
407326035GWAS975011_Hceramide measurement QTL GWAS975011 (human)5e-09ceramide measurement44768227147682272Human
407326034GWAS975010_Hceramide measurement QTL GWAS975010 (human)5e-15ceramide measurement44763936247639363Human
407317202GWAS966178_Hceramide measurement QTL GWAS966178 (human)3e-08ceramide measurement44765651747656518Human
407330129GWAS979105_Hceramide measurement QTL GWAS979105 (human)6e-28ceramide measurement44763684647636847Human
407326033GWAS975009_Hceramide measurement QTL GWAS975009 (human)4e-33ceramide measurement44763684647636847Human
407223123GWAS872099_Hopioid dependence QTL GWAS872099 (human)0.000004opioid dependence44770677147706772Human
407326032GWAS975008_Hceramide measurement QTL GWAS975008 (human)3e-09ceramide measurement44762016847620169Human
407095387GWAS744363_Hglycosyl-N-behenoyl-sphingadienine (d18:2/22:0) measurement QTL GWAS744363 (human)2e-24glycosyl-N-behenoyl-sphingadienine (d18:2/22:0) measurement44762320547623206Human
407326047GWAS975023_Hceramide measurement QTL GWAS975023 (human)1e-14ceramide measurement44763866647638667Human
407326046GWAS975022_Hceramide measurement QTL GWAS975022 (human)1e-28ceramide measurement44763684647636847Human
407078882GWAS727858_Hgut microbiome measurement QTL GWAS727858 (human)0.0000009gut microbiome measurement44779380647793807Human
407316326GWAS965302_Hceramide measurement QTL GWAS965302 (human)4e-08ceramide measurement44781619147816192Human
407316325GWAS965301_Hceramide measurement QTL GWAS965301 (human)3e-23ceramide measurement44763684647636847Human
407312749GWAS961725_Hceramide measurement QTL GWAS961725 (human)2e-25ceramide measurement44763684647636847Human
407328247GWAS977223_Hceramide measurement QTL GWAS977223 (human)6e-10ceramide measurement44780014547800146Human
407328246GWAS977222_Hceramide measurement QTL GWAS977222 (human)4e-10ceramide measurement44763866647638667Human
407316341GWAS965317_Hceramide measurement QTL GWAS965317 (human)2e-13ceramide measurement44763684647636847Human
407328245GWAS977221_Hceramide measurement QTL GWAS977221 (human)1e-22ceramide measurement44763779747637798Human
407316338GWAS965314_Hceramide measurement QTL GWAS965314 (human)3e-23ceramide measurement44765651747656518Human
407312753GWAS961729_Hceramide measurement QTL GWAS961729 (human)2e-09ceramide measurement44763866647638667Human
407312752GWAS961728_Hceramide measurement QTL GWAS961728 (human)1e-22ceramide measurement44763684647636847Human
407325839GWAS974815_Hceramide measurement QTL GWAS974815 (human)5e-13ceramide measurement44768707347687074Human
407117838GWAS766814_Hduodenal ulcer QTL GWAS766814 (human)6e-09duodenal ulcer44763278547632786Human
407325847GWAS974823_Hceramide measurement QTL GWAS974823 (human)2e-11ceramide measurement44766273147662732Human
407317268GWAS966244_Hceramide measurement QTL GWAS966244 (human)2e-17ceramide measurement44763684647636847Human
407326227GWAS975203_Hceramide measurement QTL GWAS975203 (human)1e-12ceramide measurement44768227147682272Human
406940309GWAS589285_Hgut microbiome measurement QTL GWAS589285 (human)5e-08gut microbiome measurement44776669847766699Human
407325586GWAS974562_Hceramide measurement QTL GWAS974562 (human)2e-08ceramide measurement44768227147682272Human
407325585GWAS974561_Hceramide measurement QTL GWAS974561 (human)8e-26ceramide measurement44763684647636847Human
407325584GWAS974560_Hceramide measurement QTL GWAS974560 (human)5e-08ceramide measurement44762016847620169Human
407325840GWAS974816_Hceramide measurement QTL GWAS974816 (human)3e-12ceramide measurement44780014547800146Human
407325855GWAS974831_Hceramide measurement QTL GWAS974831 (human)2e-24ceramide measurement44763684647636847Human
407319448GWAS968424_Hceramide measurement QTL GWAS968424 (human)1e-12ceramide measurement44762016847620169Human
407325857GWAS974833_Hceramide measurement QTL GWAS974833 (human)7e-09ceramide measurement44781619147816192Human
407325856GWAS974832_Hceramide measurement QTL GWAS974832 (human)2e-10ceramide measurement44779935447799355Human
407328428GWAS977404_Hceramide measurement QTL GWAS977404 (human)8e-09ceramide measurement44780014547800146Human
407328427GWAS977403_Hceramide measurement QTL GWAS977403 (human)3e-09ceramide measurement44775194347751944Human
407328426GWAS977402_Hceramide measurement QTL GWAS977402 (human)4e-27ceramide measurement44763684647636847Human
407328425GWAS977401_Hceramide measurement QTL GWAS977401 (human)2e-08ceramide measurement44762016847620169Human
407317033GWAS966009_Hceramide measurement QTL GWAS966009 (human)2e-10ceramide measurement44763779747637798Human
407312831GWAS961807_Hceramide measurement QTL GWAS961807 (human)8e-13ceramide measurement44780014547800146Human
407312830GWAS961806_Hceramide measurement QTL GWAS961806 (human)3e-11ceramide measurement44768227147682272Human
407312829GWAS961805_Hceramide measurement QTL GWAS961805 (human)5e-38ceramide measurement44763684647636847Human
407312828GWAS961804_Hceramide measurement QTL GWAS961804 (human)9e-10ceramide measurement44762016847620169Human
407316538GWAS965514_Hceramide measurement QTL GWAS965514 (human)1e-08ceramide measurement44762016847620169Human

Markers in Region
SHGC-58819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,596,083 - 47,596,198UniSTSGRCh37
Build 36447,290,840 - 47,290,955RGDNCBI36
Celera448,045,327 - 48,045,442RGD
Cytogenetic Map4p13-p12UniSTS
HuRef446,915,637 - 46,915,752UniSTS
TNG Radiation Hybrid Map426546.0UniSTS
SHGC-78843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,817,911 - 47,818,222UniSTSGRCh37
Build 36447,512,668 - 47,512,979RGDNCBI36
Celera448,266,790 - 48,267,101RGD
Cytogenetic Map4p13-p12UniSTS
HuRef447,137,416 - 47,137,727UniSTS
TNG Radiation Hybrid Map426611.0UniSTS
SHGC-79109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,810,658 - 47,810,952UniSTSGRCh37
Build 36447,505,415 - 47,505,709RGDNCBI36
Celera448,259,537 - 48,259,831RGD
Cytogenetic Map4p13-p12UniSTS
HuRef447,130,163 - 47,130,457UniSTS
TNG Radiation Hybrid Map426603.0UniSTS
SHGC-79160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,670,949 - 47,671,271UniSTSGRCh37
Build 36447,365,706 - 47,366,028RGDNCBI36
Celera448,120,194 - 48,120,516RGD
Cytogenetic Map4p13-p12UniSTS
HuRef446,990,480 - 46,990,802UniSTS
TNG Radiation Hybrid Map426556.0UniSTS
RH120903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,802,659 - 47,802,957UniSTSGRCh37
Build 36447,497,416 - 47,497,714RGDNCBI36
Celera448,251,538 - 48,251,836RGD
Cytogenetic Map4p13-p12UniSTS
HuRef447,122,164 - 47,122,462UniSTS
TNG Radiation Hybrid Map426603.0UniSTS
D4S2706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37447,603,179 - 47,603,320UniSTSGRCh37
Build 36447,297,936 - 47,298,077RGDNCBI36
Celera448,052,423 - 48,052,564RGD
Cytogenetic Map4p13-p12UniSTS
HuRef446,922,744 - 46,922,885UniSTS
TNG Radiation Hybrid Map426546.0UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
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Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2371 2749 2240 4801 1653 2216 6 556 1680 396 2147 6850 6189 30 3684 816 1681 1556 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF133845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF521006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI338960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI378383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI872582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU326305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000273857   ⟹   ENSP00000273857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,594,001 - 47,838,067 (-)Ensembl
Ensembl Acc Id: ENST00000502252   ⟹   ENSP00000424212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,595,660 - 47,838,072 (-)Ensembl
Ensembl Acc Id: ENST00000502726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,679,531 - 47,838,106 (-)Ensembl
Ensembl Acc Id: ENST00000503821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,661,488 - 47,838,067 (-)Ensembl
Ensembl Acc Id: ENST00000504584   ⟹   ENSP00000423216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,642,843 - 47,838,106 (-)Ensembl
Ensembl Acc Id: ENST00000505754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,642,841 - 47,661,860 (-)Ensembl
Ensembl Acc Id: ENST00000505909   ⟹   ENSP00000425401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,595,721 - 47,837,949 (-)Ensembl
Ensembl Acc Id: ENST00000508498   ⟹   ENSP00000425597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,595,482 - 47,790,260 (-)Ensembl
Ensembl Acc Id: ENST00000510974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,786,724 - 47,837,507 (-)Ensembl
Ensembl Acc Id: ENST00000515827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,623,584 - 47,632,452 (-)Ensembl
Ensembl Acc Id: ENST00000610355   ⟹   ENSP00000484087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl447,593,999 - 47,838,106 (-)Ensembl
RefSeq Acc Id: NM_001278585   ⟹   NP_001265514
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38447,594,001 - 47,838,067 (-)NCBI
HuRef446,915,569 - 47,159,628 (-)NCBI
CHM1_1447,594,966 - 47,839,077 (-)NCBI
T2T-CHM13v2.0447,561,341 - 47,805,399 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278586   ⟹   NP_001265515
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38447,642,835 - 47,838,067 (-)NCBI
GRCh37447,596,015 - 47,840,395 (-)NCBI
HuRef446,915,569 - 47,159,628 (-)NCBI
CHM1_1447,643,813 - 47,839,077 (-)NCBI
T2T-CHM13v2.0447,610,192 - 47,805,399 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006587   ⟹   NP_006578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38447,594,001 - 47,838,067 (-)NCBI
GRCh37447,596,015 - 47,840,395 (-)NCBI
Build 36447,290,775 - 47,534,816 (-)NCBI Archive
HuRef446,915,569 - 47,159,628 (-)NCBI
CHM1_1447,594,966 - 47,839,077 (-)NCBI
T2T-CHM13v2.0447,561,341 - 47,805,399 (-)NCBI
Sequence:
RefSeq Acc Id: NP_006578   ⟸   NM_006587
- Peptide Label: isoform 1
- UniProtKB: Q4W5G6 (UniProtKB/Swiss-Prot),   Q4W5E5 (UniProtKB/Swiss-Prot),   Q2TBD2 (UniProtKB/Swiss-Prot),   B0ZBE3 (UniProtKB/Swiss-Prot),   Q9UHY2 (UniProtKB/Swiss-Prot),   Q9Y5Q5 (UniProtKB/Swiss-Prot),   J3KR90 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265514   ⟸   NM_001278585
- Peptide Label: isoform 2
- UniProtKB: A0A087X1D5 (UniProtKB/TrEMBL),   J3KR88 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265515   ⟸   NM_001278586
- Peptide Label: isoform 3
- UniProtKB: B4E2W9 (UniProtKB/TrEMBL),   J3KR83 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000424212   ⟸   ENST00000502252
Ensembl Acc Id: ENSP00000423216   ⟸   ENST00000504584
Ensembl Acc Id: ENSP00000425401   ⟸   ENST00000505909
Ensembl Acc Id: ENSP00000484087   ⟸   ENST00000610355
Ensembl Acc Id: ENSP00000425597   ⟸   ENST00000508498
Ensembl Acc Id: ENSP00000273857   ⟸   ENST00000273857
Protein Domains
FZ   LDL-receptor class A   Peptidase S1   SRCR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5Q5-F1-model_v2 AlphaFold Q9Y5Q5 1-1042 view protein structure

Promoters
RGD ID:6802159
Promoter ID:HG_KWN:48169
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000216906,   UC003GXN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36447,534,181 - 47,534,681 (-)MPROMDB
RGD ID:6867354
Promoter ID:EPDNEW_H6842
Type:initiation region
Name:CORIN_1
Description:corin, serine peptidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38447,838,066 - 47,838,126EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19012 AgrOrtholog
COSMIC CORIN COSMIC
Ensembl Genes ENSG00000145244 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000273857 ENTREZGENE
  ENST00000273857.9 UniProtKB/Swiss-Prot
  ENST00000502252.5 UniProtKB/TrEMBL
  ENST00000504584 ENTREZGENE
  ENST00000504584.1 UniProtKB/TrEMBL
  ENST00000505909.5 UniProtKB/TrEMBL
  ENST00000508498.5 UniProtKB/TrEMBL
  ENST00000610355 ENTREZGENE
  ENST00000610355.4 UniProtKB/TrEMBL
Gene3D-CATH 1.10.2000.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145244 GTEx
HGNC ID HGNC:19012 ENTREZGENE
Human Proteome Map CORIN Human Proteome Map
InterPro Corin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Corin_CRD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Corin_CRD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR UniProtKB/TrEMBL
  LDLR_class-A_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10699 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10699 ENTREZGENE
OMIM 605236 OMIM
PANTHER ACROSIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATRIAL NATRIURETIC PEPTIDE-CONVERTING ENZYME UniProtKB/TrEMBL
  ATRIAL NATRIURETIC PEPTIDE-CONVERTING ENZYME ISOFORM X1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LOW-DENSITY LIPOPROTEIN RECEPTOR-RELATED UniProtKB/TrEMBL
Pfam Ldl_recept_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF01392 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134972424 PharmGKB
PIRSF Corin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS LDLRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LDLRA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50038 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR_1 UniProtKB/Swiss-Prot
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FRI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00202 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56487 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X1D5 ENTREZGENE, UniProtKB/TrEMBL
  B0ZBE3 ENTREZGENE
  B4E1Y7_HUMAN UniProtKB/TrEMBL
  B4E2W9 ENTREZGENE, UniProtKB/TrEMBL
  CORIN_HUMAN UniProtKB/Swiss-Prot
  E7EQE7_HUMAN UniProtKB/TrEMBL
  J3KR83 ENTREZGENE, UniProtKB/TrEMBL
  J3KR88 ENTREZGENE, UniProtKB/TrEMBL
  J3KR90 ENTREZGENE, UniProtKB/TrEMBL
  Q2TBD2 ENTREZGENE
  Q4W5E5 ENTREZGENE
  Q4W5G6 ENTREZGENE
  Q9UHY2 ENTREZGENE
  Q9Y5Q5 ENTREZGENE
UniProt Secondary B0ZBE3 UniProtKB/Swiss-Prot
  Q2TBD2 UniProtKB/Swiss-Prot
  Q4W5E5 UniProtKB/Swiss-Prot
  Q4W5G6 UniProtKB/Swiss-Prot
  Q9UHY2 UniProtKB/Swiss-Prot