HRG (histidine rich glycoprotein) - Rat Genome Database

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Gene: HRG (histidine rich glycoprotein) Homo sapiens
Analyze
Symbol: HRG
Name: histidine rich glycoprotein
RGD ID: 736906
HGNC Page HGNC:5181
Description: Enables several functions, including heme binding activity; heparan sulfate proteoglycan binding activity; and heparin binding activity. Involved in several processes, including negative regulation of lamellipodium assembly; negative regulation of vascular endothelial growth factor signaling pathway; and positive regulation of focal adhesion assembly. Located in cell surface and extracellular region. Implicated in thrombophilia due to HRG deficiency and thrombosis. Biomarker of pancreatic adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp779H1622; histidine-proline-rich glycoprotein; histidine-rich glycoprotein; HPRG; HRGP; THPH11
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: HRGP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383186,666,014 - 186,678,234 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3186,660,216 - 186,678,234 (+)EnsemblGRCh38hg38GRCh38
GRCh373186,383,803 - 186,396,023 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363187,866,492 - 187,878,717 (+)NCBINCBI36Build 36hg18NCBI36
Build 343187,866,499 - 187,878,724NCBI
Celera3184,820,230 - 184,832,456 (+)NCBICelera
Cytogenetic Map3q27.3NCBI
HuRef3183,793,470 - 183,805,692 (+)NCBIHuRef
CHM1_13186,347,752 - 186,359,974 (+)NCBICHM1_1
T2T-CHM13v2.03189,487,766 - 189,499,996 (+)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
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
2-bromohexadecanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cefaloridine  (ISO)
CGP 52608  (EXP)
clofibrate  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
diarsenic trioxide  (EXP)
doxorubicin  (ISO)
endosulfan  (EXP)
fructose  (ISO)
furan  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glycidol  (ISO)
graphite  (ISO)
GW 4064  (ISO)
heparin  (EXP)
irinotecan  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
Mesaconitine  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
olanzapine  (EXP)
ouabain  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
pravastatin  (ISO)
resveratrol  (EXP)
sodium arsenite  (EXP)
tamoxifen  (EXP)
tauroursodeoxycholic acid  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
zaragozic acid A  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Identification of potential prognostic biomarkers in patients with untreated, advanced pancreatic cancer from a phase 3 trial (Cancer and Leukemia Group B 80303). Roberts AS, etal., Cancer. 2012 Jan 15;118(2):571-8. doi: 10.1002/cncr.26270. Epub 2011 Jun 28.
7. HRG Tokushima: molecular and cellular characterization of histidine-rich glycoprotein (HRG) deficiency. Shigekiyo T, etal., Blood. 1998 Jan 1;91(1):128-33.
8. Heregulin, cysteine rich-61 and matrix metalloproteinase 9 expression in human carotid atherosclerotic plaques: relationship with clinical data. Sigala F, etal., Eur J Vasc Endovasc Surg. 2006 Sep;32(3):238-45. doi: 10.1016/j.ejvs.2006.01.026. Epub 2006 Jun 13.
Additional References at PubMed
PMID:678554   PMID:1459097   PMID:1561009   PMID:1678514   PMID:2347592   PMID:2524479   PMID:2566603   PMID:3011081   PMID:3819648   PMID:3958188   PMID:4116337   PMID:6414553  
PMID:6438154   PMID:6740558   PMID:8188234   PMID:8348977   PMID:8478589   PMID:8478593   PMID:9184145   PMID:9276466   PMID:10050040   PMID:10421785   PMID:10514432   PMID:11134179  
PMID:12391183   PMID:12477932   PMID:12764609   PMID:14718574   PMID:14744774   PMID:15138272   PMID:15220341   PMID:15269838   PMID:15489334   PMID:16107330   PMID:16335952   PMID:16344560  
PMID:16436387   PMID:16489009   PMID:17229145   PMID:18797515   PMID:19056867   PMID:19285951   PMID:19674792   PMID:19712047   PMID:19903770   PMID:19913121   PMID:20071662   PMID:20237496  
PMID:20303064   PMID:20561914   PMID:20573803   PMID:20628086   PMID:21215706   PMID:21304106   PMID:21420681   PMID:21665544   PMID:21757718   PMID:21873635   PMID:21988832   PMID:22516433  
PMID:22703881   PMID:22895448   PMID:23376485   PMID:23533145   PMID:23576524   PMID:23672470   PMID:24567057   PMID:24825900   PMID:24981860   PMID:25037231   PMID:25064236   PMID:25243896  
PMID:25353308   PMID:25363753   PMID:26051322   PMID:26336134   PMID:26354857   PMID:26687479   PMID:27068509   PMID:27210772   PMID:27930811   PMID:28344315   PMID:28356499   PMID:28675934  
PMID:29108964   PMID:29536307   PMID:29540166   PMID:29987050   PMID:31093964   PMID:31856190   PMID:31880188   PMID:32235678   PMID:32296183   PMID:32929358   PMID:33452125   PMID:33961781  
PMID:33986340   PMID:34099652   PMID:34494506   PMID:35013218   PMID:35436053   PMID:36142212   PMID:36168628   PMID:37249651   PMID:38068988   PMID:38432918   PMID:38659607   PMID:39001985  


Genomics

Comparative Map Data
HRG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383186,666,014 - 186,678,234 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3186,660,216 - 186,678,234 (+)EnsemblGRCh38hg38GRCh38
GRCh373186,383,803 - 186,396,023 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363187,866,492 - 187,878,717 (+)NCBINCBI36Build 36hg18NCBI36
Build 343187,866,499 - 187,878,724NCBI
Celera3184,820,230 - 184,832,456 (+)NCBICelera
Cytogenetic Map3q27.3NCBI
HuRef3183,793,470 - 183,805,692 (+)NCBIHuRef
CHM1_13186,347,752 - 186,359,974 (+)NCBICHM1_1
T2T-CHM13v2.03189,487,766 - 189,499,996 (+)NCBIT2T-CHM13v2.0
Hrg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391622,769,822 - 22,780,409 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1622,769,822 - 22,780,406 (+)EnsemblGRCm39 Ensembl
GRCm381622,951,072 - 22,961,659 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1622,951,072 - 22,961,656 (+)EnsemblGRCm38mm10GRCm38
MGSCv371622,951,145 - 22,961,732 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361622,866,448 - 22,876,980 (+)NCBIMGSCv36mm8
Celera1623,511,005 - 23,521,593 (+)NCBICelera
Cytogenetic Map16B1NCBI
cM Map1613.79NCBI
Hrg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81191,559,087 - 91,573,982 (-)NCBIGRCr8
mRatBN7.21178,054,488 - 78,069,402 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1178,054,498 - 78,069,389 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1186,804,961 - 86,819,853 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01179,463,216 - 79,478,058 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01178,519,273 - 78,534,165 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01181,621,274 - 81,639,938 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1181,621,283 - 81,639,952 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01184,718,226 - 84,736,651 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41180,248,578 - 80,264,179 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11180,306,169 - 80,321,768 (-)NCBI
Celera1176,927,058 - 76,941,902 (-)NCBICelera
Cytogenetic Map11q23NCBI
Hrg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542021,019,212 - 21,032,976 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542021,020,938 - 21,033,022 (-)NCBIChiLan1.0ChiLan1.0
HRG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22184,541,834 - 184,554,072 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13184,546,549 - 184,558,787 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03183,701,069 - 183,712,365 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13192,168,299 - 192,180,539 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3192,168,299 - 192,180,539 (+)Ensemblpanpan1.1panPan2
HRG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13419,276,487 - 19,286,540 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3419,276,549 - 19,286,537 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3423,361,891 - 23,371,917 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03419,187,471 - 19,197,522 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3419,187,509 - 19,197,783 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13419,219,778 - 19,229,696 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03419,219,621 - 19,229,772 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03419,448,102 - 19,458,128 (+)NCBIUU_Cfam_GSD_1.0
Hrg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602117,193,744 - 117,204,015 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365783,285,986 - 3,295,876 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365783,285,986 - 3,295,876 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HRG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13124,505,312 - 124,516,705 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113124,505,305 - 124,516,387 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213133,895,233 - 133,906,338 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HRG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1152,753,819 - 2,766,946 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl152,753,810 - 2,766,478 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606311,490,597 - 11,503,244 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hrg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473070,070,302 - 70,086,256 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HRG
83 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000412.5(HRG):c.99del (p.Ala34fs) deletion not provided [RCV000518881] Chr3:186666128 [GRCh38]
Chr3:186383917 [GRCh37]
Chr3:3q27.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000412.5(HRG):c.308G>A (p.Gly103Glu) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV000016049] Chr3:186669945 [GRCh38]
Chr3:186387734 [GRCh37]
Chr3:3q27.3		 pathogenic
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 copy number loss See cases [RCV000051609] Chr3:186204253..192214251 [GRCh38]
Chr3:185922042..191932040 [GRCh37]
Chr3:187404736..193414734 [NCBI36]
Chr3:3q27.2-28		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
NM_000412.5(HRG):c.1234C>T (p.Gln412Ter) single nucleotide variant not provided [RCV000895002] Chr3:186677539 [GRCh38]
Chr3:186395328 [GRCh37]
Chr3:187878022 [NCBI36]
Chr3:3q27.3		 benign|not provided
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3 copy number gain See cases [RCV000139009] Chr3:184843627..187461008 [GRCh38]
Chr3:184561415..187178796 [GRCh37]
Chr3:186044109..188661490 [NCBI36]
Chr3:3q27.2-27.3		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28		 likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
Single allele deletion Normal pregnancy [RCV000161328] Chr3:186668987..186693287 [GRCh38]
Chr3:186386776..186411076 [GRCh37]
Chr3:3q27.3		 not provided
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1 copy number loss See cases [RCV000240447] Chr3:186291045..191037240 [GRCh37]
Chr3:3q27.3-28		 pathogenic
C223R single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV000415557] Chr3:3q27.3 pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q27.3(chr3:186386711-186395747)x1 copy number loss See cases [RCV000446938] Chr3:186386711..186395747 [GRCh37]
Chr3:3q27.3		 likely benign
GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1 copy number loss See cases [RCV000448264] Chr3:185419048..186575415 [GRCh37]
Chr3:3q27.2-27.3		 pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)x1 copy number loss See cases [RCV000448937] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
NM_000412.5(HRG):c.271C>T (p.Pro91Ser) single nucleotide variant Familial early-onset deep venous thrombosis [RCV000509067]|Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV000627095] Chr3:186669022 [GRCh38]
Chr3:186386811 [GRCh37]
Chr3:3q27.3		 pathogenic|likely pathogenic
NC_000003.11:g.(?_186256465)_(186980528_?)del deletion 3MC syndrome 1 [RCV000638455] Chr3:186256465..186980528 [GRCh37]
Chr3:3q27.3		 pathogenic|likely pathogenic
NM_000412.5(HRG):c.758A>G (p.Asn253Ser) single nucleotide variant not specified [RCV004296865] Chr3:186677063 [GRCh38]
Chr3:186394852 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.415A>G (p.Lys139Glu) single nucleotide variant not specified [RCV004319072] Chr3:186671646 [GRCh38]
Chr3:186389435 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q27.1-28(chr3:184300169-188285627) copy number loss Short stature [RCV000626533] Chr3:184300169..188285627 [GRCh37]
Chr3:3q27.1-28		 pathogenic
NM_000412.5(HRG):c.572G>A (p.Gly191Glu) single nucleotide variant not specified [RCV004325278] Chr3:186672800 [GRCh38]
Chr3:186390589 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-28(chr3:186018854-189514047)x1 copy number loss not provided [RCV000743033] Chr3:186018854..189514047 [GRCh37]
Chr3:3q27.3-28		 pathogenic
GRCh37/hg19 3q27.3(chr3:186328121-186494422)x3 copy number gain not provided [RCV000743036] Chr3:186328121..186494422 [GRCh37]
Chr3:3q27.3		 benign
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q27.3(chr3:186386586-186420170)x1 copy number loss not provided [RCV000743038] Chr3:186386586..186420170 [GRCh37]
Chr3:3q27.3		 benign
GRCh37/hg19 3q27.3(chr3:186386776-186420170)x1 copy number loss not provided [RCV000743039] Chr3:186386776..186420170 [GRCh37]
Chr3:3q27.3		 benign
GRCh37/hg19 3q27.3(chr3:186387299-186420170)x1 copy number loss not provided [RCV000743040] Chr3:186387299..186420170 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.117T>C (p.Asn39=) single nucleotide variant not provided [RCV000998175] Chr3:186666148 [GRCh38]
Chr3:186383937 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.286C>T (p.Arg96Cys) single nucleotide variant not provided [RCV000998177] Chr3:186669037 [GRCh38]
Chr3:186386826 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.548T>C (p.Val183Ala) single nucleotide variant not provided [RCV000998180] Chr3:186671779 [GRCh38]
Chr3:186389568 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.701C>T (p.Pro234Leu) single nucleotide variant not provided [RCV000948667] Chr3:186675150 [GRCh38]
Chr3:186392939 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.962C>T (p.Pro321Leu) single nucleotide variant not provided [RCV000948670] Chr3:186677267 [GRCh38]
Chr3:186395056 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.1051C>A (p.Pro351Thr) single nucleotide variant HRG-related disorder [RCV003940499]|not provided [RCV000884489] Chr3:186677356 [GRCh38]
Chr3:186395145 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.849T>C (p.Ser283=) single nucleotide variant not provided [RCV000948668] Chr3:186677154 [GRCh38]
Chr3:186394943 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.854ATC[3] (p.His288del) microsatellite not provided [RCV000948669] Chr3:186677159..186677161 [GRCh38]
Chr3:186394948..186394950 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.306C>T (p.Ile102=) single nucleotide variant not provided [RCV000968022] Chr3:186669943 [GRCh38]
Chr3:186387732 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.598G>T (p.Val200Leu) single nucleotide variant HRG-related disorder [RCV003940497]|not provided [RCV000884487] Chr3:186672826 [GRCh38]
Chr3:186390615 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.952C>T (p.Pro318Ser) single nucleotide variant HRG-related disorder [RCV003940498]|not provided [RCV000884488] Chr3:186677257 [GRCh38]
Chr3:186395046 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.393C>A (p.Val131=) single nucleotide variant not provided [RCV000894320] Chr3:186671624 [GRCh38]
Chr3:186389413 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.434T>A (p.Ile145Lys) single nucleotide variant not provided [RCV000998178] Chr3:186671665 [GRCh38]
Chr3:186389454 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1126A>G (p.Thr376Ala) single nucleotide variant not provided [RCV000998184] Chr3:186677431 [GRCh38]
Chr3:186395220 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1306G>A (p.Gly436Arg) single nucleotide variant HRG-related disorder [RCV003973013]|not provided [RCV000998186] Chr3:186677611 [GRCh38]
Chr3:186677611..186677612 [GRCh38]
Chr3:186395400 [GRCh37]
Chr3:186395400..186395401 [GRCh37]
Chr3:3q27.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000412.5(HRG):c.723_724del (p.Cys241_Glu242delinsTer) microsatellite not provided [RCV000998182] Chr3:186675170..186675171 [GRCh38]
Chr3:186392959..186392960 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1155_1214del (p.383_387GHHPH[1]) deletion not provided [RCV000998185] Chr3:186677443..186677502 [GRCh38]
Chr3:186395232..186395291 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1408C>T (p.Leu470=) single nucleotide variant not provided [RCV000998188] Chr3:186677713 [GRCh38]
Chr3:186395502 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1 copy number loss not provided [RCV001005497] Chr3:185879162..187446035 [GRCh37]
Chr3:3q27.2-27.3		 pathogenic
NM_000412.5(HRG):c.702G>A (p.Pro234=) single nucleotide variant not provided [RCV000998181] Chr3:186675151 [GRCh38]
Chr3:186392940 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.767C>T (p.Pro256Leu) single nucleotide variant not provided [RCV000998183] Chr3:186677072 [GRCh38]
Chr3:186394861 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.472G>A (p.Ala158Thr) single nucleotide variant not provided [RCV003234489] Chr3:186671703 [GRCh38]
Chr3:186389492 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.868del (p.His290fs) deletion not provided [RCV001593736] Chr3:186677170 [GRCh38]
Chr3:186394959 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1478A>T (p.Asn493Ile) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV001702216] Chr3:186677783 [GRCh38]
Chr3:186395572 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.1342C>T (p.Arg448Cys) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV001702353] Chr3:186677647 [GRCh38]
Chr3:186395436 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.880G>T (p.Glu294Ter) single nucleotide variant not provided [RCV000887390] Chr3:186677185 [GRCh38]
Chr3:186394974 [GRCh37]
Chr3:3q27.3		 pathogenic|likely benign
NM_000412.5(HRG):c.881A>C (p.Glu294Ala) single nucleotide variant not provided [RCV000887391] Chr3:186677186 [GRCh38]
Chr3:186394975 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.204C>T (p.Tyr68=) single nucleotide variant not provided [RCV000961133] Chr3:186668955 [GRCh38]
Chr3:186386744 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.125G>A (p.Arg42Gln) single nucleotide variant HRG-related disorder [RCV003936268]|Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV002222059]|Thrombus [RCV002280896]|not provided [RCV003389742] Chr3:186666156 [GRCh38]
Chr3:186383945 [GRCh37]
Chr3:3q27.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000412.5(HRG):c.439T>A (p.Phe147Ile) single nucleotide variant not provided [RCV000998179] Chr3:186671670 [GRCh38]
Chr3:186389459 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1379G>A (p.Arg460Gln) single nucleotide variant Abnormal bleeding [RCV001270493] Chr3:186677684 [GRCh38]
Chr3:186395473 [GRCh37]
Chr3:3q27.3		 likely benign|uncertain significance
NM_000412.5(HRG):c.184-11G>T single nucleotide variant not provided [RCV001621716] Chr3:186668924 [GRCh38]
Chr3:186386713 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.1004A>G (p.Asn335Ser) single nucleotide variant not specified [RCV004326866] Chr3:186677309 [GRCh38]
Chr3:186395098 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28		 pathogenic
NM_000412.5(HRG):c.541G>C (p.Glu181Gln) single nucleotide variant not specified [RCV004287653] Chr3:186671772 [GRCh38]
Chr3:186389561 [GRCh37]
Chr3:3q27.3		 uncertain significance
NC_000003.11:g.(?_186256465)_(187009440_?)del deletion 3MC syndrome 1 [RCV001033360] Chr3:186256465..187009440 [GRCh37]
Chr3:3q27.3		 pathogenic
GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1 copy number loss not provided [RCV001259730] Chr3:182877291..186830759 [GRCh37]
Chr3:3q27.1-27.3		 pathogenic
GRCh37/hg19 3q27.1-28(chr3:183556940-188083060) copy number loss Short stature [RCV002280742] Chr3:183556940..188083060 [GRCh37]
Chr3:3q27.1-28		 pathogenic
NM_000412.5(HRG):c.124C>T (p.Arg42Ter) single nucleotide variant Thrombophilia, histidine-rich glycoprotein-related [RCV001336847] Chr3:186666155 [GRCh38]
Chr3:186383944 [GRCh37]
Chr3:3q27.3		 pathogenic
NM_000412.5(HRG):c.610C>T (p.Pro204Ser) single nucleotide variant HRG-related disorder [RCV003976039]|Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV001703327] Chr3:186672838 [GRCh38]
Chr3:186390627 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.745C>T (p.His249Tyr) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV002245334] Chr3:186677050 [GRCh38]
Chr3:186394839 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.736C>A (p.Pro246Thr) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV002245331] Chr3:186675185 [GRCh38]
Chr3:186392974 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3 copy number gain not provided [RCV001795540] Chr3:175119199..187592480 [GRCh37]
Chr3:3q26.31-27.3		 pathogenic
NM_000412.5(HRG):c.733G>A (p.Asp245Asn) single nucleotide variant not provided [RCV001756734] Chr3:186675182 [GRCh38]
Chr3:186392971 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3q27.3(chr3:186149060-186599706) copy number loss not specified [RCV002053397] Chr3:186149060..186599706 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042) copy number loss not specified [RCV002053395] Chr3:183178932..186838042 [GRCh37]
Chr3:3q27.1-27.3		 pathogenic
GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935) copy number loss not specified [RCV002053393] Chr3:182189525..187212935 [GRCh37]
Chr3:3q26.33-27.3		 pathogenic
NM_000412.5(HRG):c.72C>A (p.Cys24Ter) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV002222134] Chr3:186666103 [GRCh38]
Chr3:186383892 [GRCh37]
Chr3:3q27.3		 uncertain significance
NC_000003.11:g.(?_186256485)_(187009420_?)dup duplication 3MC syndrome 1 [RCV003119728]|not provided [RCV003119729] Chr3:186256485..187009420 [GRCh37]
Chr3:3q27.3		 uncertain significance|no classifications from unflagged records
NM_000412.5(HRG):c.946C>T (p.Pro316Ser) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV002245332] Chr3:186677251 [GRCh38]
Chr3:186395040 [GRCh37]
Chr3:3q27.3		 uncertain significance
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1 copy number loss not provided [RCV002474891] Chr3:184170962..188047867 [GRCh37]
Chr3:3q27.1-28		 likely pathogenic
NM_000412.5(HRG):c.62C>T (p.Pro21Leu) single nucleotide variant not specified [RCV004207056] Chr3:186666093 [GRCh38]
Chr3:186383882 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.809G>A (p.Arg270His) single nucleotide variant not specified [RCV004199535] Chr3:186677114 [GRCh38]
Chr3:186394903 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.307G>A (p.Gly103Arg) single nucleotide variant not specified [RCV004136203] Chr3:186669944 [GRCh38]
Chr3:186387733 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.920C>T (p.Ser307Leu) single nucleotide variant not specified [RCV004151502] Chr3:186677225 [GRCh38]
Chr3:186395014 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.1009G>A (p.Ala337Thr) single nucleotide variant not specified [RCV004098004] Chr3:186677314 [GRCh38]
Chr3:186395103 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.550G>A (p.Ala184Thr) single nucleotide variant not specified [RCV004099757] Chr3:186671781 [GRCh38]
Chr3:186389570 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1559C>T (p.Thr520Ile) single nucleotide variant not specified [RCV004109987] Chr3:186677864 [GRCh38]
Chr3:186395653 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.735C>A (p.Asp245Glu) single nucleotide variant not specified [RCV004214694] Chr3:186675184 [GRCh38]
Chr3:186392973 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1289G>C (p.Gly430Ala) single nucleotide variant not specified [RCV004150180] Chr3:186677594 [GRCh38]
Chr3:186395383 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1322G>A (p.Arg441Gln) single nucleotide variant not specified [RCV004083008] Chr3:186677627 [GRCh38]
Chr3:186395416 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.202T>C (p.Tyr68His) single nucleotide variant not specified [RCV004173213] Chr3:186668953 [GRCh38]
Chr3:186386742 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.418G>T (p.Asp140Tyr) single nucleotide variant not specified [RCV004212645] Chr3:186671649 [GRCh38]
Chr3:186389438 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1448C>A (p.Pro483Gln) single nucleotide variant not specified [RCV004266747] Chr3:186677753 [GRCh38]
Chr3:186395542 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.733G>C (p.Asp245His) single nucleotide variant not specified [RCV004257594] Chr3:186675182 [GRCh38]
Chr3:186392971 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.400G>A (p.Ala134Thr) single nucleotide variant not specified [RCV004274074] Chr3:186671631 [GRCh38]
Chr3:186389420 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1498G>T (p.Val500Phe) single nucleotide variant not specified [RCV004287505] Chr3:186677803 [GRCh38]
Chr3:186395592 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1301C>T (p.Pro434Leu) single nucleotide variant not specified [RCV004261276] Chr3:186677606 [GRCh38]
Chr3:186395395 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1393A>G (p.Arg465Gly) single nucleotide variant not specified [RCV004308032] Chr3:186677698 [GRCh38]
Chr3:186395487 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1256C>T (p.Pro419Leu) single nucleotide variant not specified [RCV004342899] Chr3:186677561 [GRCh38]
Chr3:186395350 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.392-3C>T single nucleotide variant not specified [RCV003331714] Chr3:186671620 [GRCh38]
Chr3:186389409 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.669C>G (p.Phe223Leu) single nucleotide variant not specified [RCV004345158] Chr3:186675118 [GRCh38]
Chr3:186392907 [GRCh37]
Chr3:3q27.3		 uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_000412.5(HRG):c.732C>T (p.Phe244=) single nucleotide variant not provided [RCV003434825] Chr3:186675181 [GRCh38]
Chr3:186392970 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.1185_1214del (p.383GHHPH[3]) deletion not provided [RCV003434826] Chr3:186677479..186677508 [GRCh38]
Chr3:186395268..186395297 [GRCh37]
Chr3:3q27.3		 uncertain significance
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
NM_000412.5(HRG):c.236C>G (p.Ser79Trp) single nucleotide variant not provided [RCV003439081] Chr3:186668987 [GRCh38]
Chr3:186386776 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.1325G>A (p.Gly442Asp) single nucleotide variant not specified [RCV003489574] Chr3:186677630 [GRCh38]
Chr3:186395419 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.227C>T (p.Ser76Leu) single nucleotide variant Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV003989015]|not provided [RCV004598310] Chr3:186668978 [GRCh38]
Chr3:186386767 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.863A>T (p.His288Leu) single nucleotide variant HRG-related disorder [RCV003967112] Chr3:186677168 [GRCh38]
Chr3:186394957 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.167C>T (p.Ala56Val) single nucleotide variant not specified [RCV003994930] Chr3:186666198 [GRCh38]
Chr3:186383987 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1368A>G (p.Gly456=) single nucleotide variant HRG-related disorder [RCV003909302] Chr3:186677673 [GRCh38]
Chr3:186395462 [GRCh37]
Chr3:3q27.3		 likely benign
GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3 copy number gain See cases [RCV004442807] Chr3:179313373..197851444 [GRCh37]
Chr3:3q26.33-29		 pathogenic
NM_000412.5(HRG):c.1497A>G (p.Ser499=) single nucleotide variant HRG-related disorder [RCV003937081] Chr3:186677802 [GRCh38]
Chr3:186395591 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.770C>T (p.Pro257Leu) single nucleotide variant HRG-related disorder [RCV003937196] Chr3:186677075 [GRCh38]
Chr3:186394864 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.1173T>C (p.Pro391=) single nucleotide variant HRG-related disorder [RCV003972160] Chr3:186677478 [GRCh38]
Chr3:186395267 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.81T>C (p.Val27=) single nucleotide variant HRG-related disorder [RCV003929723] Chr3:186666112 [GRCh38]
Chr3:186383901 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.822C>G (p.Thr274=) single nucleotide variant HRG-related disorder [RCV003964728] Chr3:186677127 [GRCh38]
Chr3:186394916 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.539T>C (p.Ile180Thr) single nucleotide variant HRG-related disorder [RCV003979634] Chr3:186671770 [GRCh38]
Chr3:186389559 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.125G>T (p.Arg42Leu) single nucleotide variant not provided [RCV003886736] Chr3:186666156 [GRCh38]
Chr3:186383945 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.372del (p.Phe124fs) deletion Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency [RCV003990680] Chr3:186670007 [GRCh38]
Chr3:186387796 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1019A>G (p.His340Arg) single nucleotide variant HRG-related disorder [RCV003976721] Chr3:186677324 [GRCh38]
Chr3:186395113 [GRCh37]
Chr3:3q27.3		 benign
NM_000412.5(HRG):c.1184A>T (p.His395Leu) single nucleotide variant not specified [RCV004402315] Chr3:186677489 [GRCh38]
Chr3:186395278 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1200T>A (p.His400Gln) single nucleotide variant not specified [RCV004402316] Chr3:186677505 [GRCh38]
Chr3:186395294 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1274G>A (p.Gly425Asp) single nucleotide variant not specified [RCV004402317] Chr3:186677579 [GRCh38]
Chr3:186395368 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.1352A>G (p.His451Arg) single nucleotide variant not specified [RCV004402318] Chr3:186677657 [GRCh38]
Chr3:186395446 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1458A>T (p.Lys486Asn) single nucleotide variant not specified [RCV004402319] Chr3:186677763 [GRCh38]
Chr3:186395552 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.419A>T (p.Asp140Val) single nucleotide variant not specified [RCV004402320] Chr3:186671650 [GRCh38]
Chr3:186389439 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.659C>A (p.Ala220Glu) single nucleotide variant not specified [RCV004402322] Chr3:186675108 [GRCh38]
Chr3:186392897 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1191TGGACACCATCCCCA[1] (p.383GHHPH[4]) microsatellite not provided [RCV004546062] Chr3:186677491..186677505 [GRCh38]
Chr3:186395280..186395294 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.48G>A (p.Ser16=) single nucleotide variant not provided [RCV004598650] Chr3:186666079 [GRCh38]
Chr3:186383868 [GRCh37]
Chr3:3q27.3		 likely benign
NM_000412.5(HRG):c.964A>G (p.Met322Val) single nucleotide variant not specified [RCV004633116] Chr3:186677269 [GRCh38]
Chr3:186395058 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.1293C>A (p.His431Gln) single nucleotide variant not specified [RCV004633117] Chr3:186677598 [GRCh38]
Chr3:186395387 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.736C>T (p.Pro246Ser) single nucleotide variant not specified [RCV004633118] Chr3:186675185 [GRCh38]
Chr3:186392974 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.796G>T (p.Gly266Cys) single nucleotide variant not specified [RCV004633119] Chr3:186677101 [GRCh38]
Chr3:186394890 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.178A>G (p.Arg60Gly) single nucleotide variant not specified [RCV004626260] Chr3:186666209 [GRCh38]
Chr3:186383998 [GRCh37]
Chr3:3q27.3		 uncertain significance
NM_000412.5(HRG):c.766C>T (p.Pro256Ser) single nucleotide variant not specified [RCV004626261] Chr3:186677071 [GRCh38]
Chr3:186394860 [GRCh37]
Chr3:3q27.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:476
Count of miRNA genes:390
Interacting mature miRNAs:417
Transcripts:ENST00000232003, ENST00000468154, ENST00000495413
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407113287GWAS762263_Haspartate aminotransferase measurement QTL GWAS762263 (human)1e-08aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)3186672838186672839Human
407185729GWAS834705_Hblood protein measurement QTL GWAS834705 (human)4e-63blood protein measurementblood protein measurement (CMO:0000028)3186675393186675394Human
407193921GWAS842897_Hangiotensin-converting enzyme measurement QTL GWAS842897 (human)3e-31angiotensin-converting enzyme measurementblood angiotensin I converting enzyme activity level (CMO:0000578)3186676096186676097Human
407393356GWAS1042332_Hprotein measurement QTL GWAS1042332 (human)2e-24protein measurement3186677783186677784Human
407204675GWAS853651_Hpersulfide dioxygenase ETHE1, mitochondrial measurement QTL GWAS853651 (human)7e-41persulfide dioxygenase ETHE1, mitochondrial measurement3186672838186672839Human
407414862GWAS1063838_Hpersulfide dioxygenase ETHE1, mitochondrial measurement QTL GWAS1063838 (human)3e-21persulfide dioxygenase ETHE1, mitochondrial measurement3186673278186673279Human
406946635GWAS595611_Hhistidine-rich glycoprotein measurement QTL GWAS595611 (human)3e-48histidine-rich glycoprotein measurement3186675758186675759Human
406946634GWAS595610_Hhistidine-rich glycoprotein measurement QTL GWAS595610 (human)1e-2362histidine-rich glycoprotein measurement3186673485186673486Human
407171400GWAS820376_Hblood protein measurement QTL GWAS820376 (human)7e-45blood protein measurementblood protein measurement (CMO:0000028)3186672838186672839Human
407185739GWAS834715_Hblood protein measurement QTL GWAS834715 (human)3e-50blood protein measurementblood protein measurement (CMO:0000028)3186671770186671771Human
407209034GWAS858010_HUPF0577 protein KIAA1324-like measurement QTL GWAS858010 (human)7e-52UPF0577 protein KIAA1324-like measurement3186677647186677648Human
407185748GWAS834724_HCD27 antigen measurement QTL GWAS834724 (human)6e-16CD27 antigen measurement3186676249186676250Human
407208017GWAS856993_Hhistidine-rich glycoprotein measurement QTL GWAS856993 (human)2e-185histidine-rich glycoprotein measurement3186672838186672839Human
406943060GWAS592036_Hgastrin-releasing peptide measurement QTL GWAS592036 (human)4e-30gastrin-releasing peptide measurement3186675758186675759Human
407194195GWAS843171_Hblood protein measurement QTL GWAS843171 (human)3e-17blood protein measurementblood protein measurement (CMO:0000028)3186675758186675759Human
407022682GWAS671658_Hpartial thromboplastin time QTL GWAS671658 (human)1e-11partial thromboplastin timeactivated partial thromboplastin time (CMO:0000210)3186672838186672839Human
406950490GWAS599466_Hprotocadherin-10 measurement QTL GWAS599466 (human)2e-175protocadherin-10 measurement3186668362186668363Human
406952798GWAS601774_Hnon-histone chromosomal protein HMG-14 measurement QTL GWAS601774 (human)2e-109non-histone chromosomal protein HMG-14 measurement3186676249186676250Human
406954849GWAS603825_Hprotein measurement QTL GWAS603825 (human)1e-14protein measurement3186676249186676250Human
407202660GWAS851636_Htyrosine measurement QTL GWAS851636 (human)5e-14tyrosine measurement3186671980186671981Human
407187559GWAS836535_Hblood protein measurement QTL GWAS836535 (human)2e-85blood protein measurementblood protein measurement (CMO:0000028)3186676249186676250Human
407390826GWAS1039802_Hhistidine-rich glycoprotein measurement QTL GWAS1039802 (human)5e-94histidine-rich glycoprotein measurement3186677324186677325Human
407155298GWAS804274_Hnon-histone chromosomal protein HMG-14 measurement QTL GWAS804274 (human)2e-68non-histone chromosomal protein HMG-14 measurement3186676249186676250Human
406955623GWAS604599_HNTF2-related export protein 1 measurement QTL GWAS604599 (human)4e-188NTF2-related export protein 1 measurement3186676762186676763Human
407417455GWAS1066431_Hblood protein measurement QTL GWAS1066431 (human)1e-107blood protein measurementblood protein measurement (CMO:0000028)3186671021186671022Human
407411298GWAS1060274_Hextracellular sulfatase Sulf-2 measurement QTL GWAS1060274 (human)1e-14extracellular sulfatase Sulf-2 measurement3186675997186675998Human
407180905GWAS829881_Hblood protein measurement QTL GWAS829881 (human)1e-68blood protein measurementblood protein measurement (CMO:0000028)3186675758186675759Human
407178856GWAS827832_Hnon-histone chromosomal protein HMG-14 measurement QTL GWAS827832 (human)4e-98non-histone chromosomal protein HMG-14 measurement3186676249186676250Human
407176821GWAS825797_HCD27 antigen measurement QTL GWAS825797 (human)5e-98CD27 antigen measurement3186675758186675759Human
407390840GWAS1039816_HCD27 antigen measurement QTL GWAS1039816 (human)2e-28CD27 antigen measurement3186677647186677648Human
407176820GWAS825796_HCD27 antigen measurement QTL GWAS825796 (human)2e-144CD27 antigen measurement3186676249186676250Human
407390841GWAS1039817_HCD27 antigen measurement QTL GWAS1039817 (human)2e-45CD27 antigen measurement3186677324186677325Human
407200630GWAS849606_Hdual specificity mitogen-activated protein kinase kinase 4 measurement QTL GWAS849606 (human)9e-15dual specificity mitogen-activated protein kinase kinase 4 measurement3186672838186672839Human
407388795GWAS1037771_Ha disintegrin and metalloproteinase with thrombospondin motifs 13 measurement QTL GWAS1037771 (human)2e-14a disintegrin and metalloproteinase with thrombospondin motifs 13 measurement3186677324186677325Human
407352434GWAS1001410_Hprotocadherin-10 measurement QTL GWAS1001410 (human)1e-475protocadherin-10 measurement3186677647186677648Human
407198835GWAS847811_Hhistidine-rich glycoprotein measurement QTL GWAS847811 (human)3e-25histidine-rich glycoprotein measurement3186670239186670240Human
407154803GWAS803779_Hdual specificity mitogen-activated protein kinase kinase 4 measurement QTL GWAS803779 (human)1e-185dual specificity mitogen-activated protein kinase kinase 4 measurement3186675758186675759Human
407377776GWAS1026752_Ha disintegrin and metalloproteinase with thrombospondin motifs 13 measurement QTL GWAS1026752 (human)2e-51a disintegrin and metalloproteinase with thrombospondin motifs 13 measurement3186677324186677325Human
407359359GWAS1008335_Hlevel of death-associated protein 1 in blood serum QTL GWAS1008335 (human)1e-139level of death-associated protein 1 in blood serum3186677647186677648Human
407190398GWAS839374_Hblood protein measurement QTL GWAS839374 (human)6e-13blood protein measurementblood protein measurement (CMO:0000028)3186671770186671771Human
407346044GWAS995020_Hdual specificity mitogen-activated protein kinase kinase 4 measurement QTL GWAS995020 (human)1e-237dual specificity mitogen-activated protein kinase kinase 4 measurement3186677324186677325Human
407384950GWAS1033926_Hblood protein measurement QTL GWAS1033926 (human)6e-189blood protein measurementblood protein measurement (CMO:0000028)3186677324186677325Human
407393035GWAS1042011_HCD27 antigen measurement QTL GWAS1042011 (human)8e-83CD27 antigen measurement3186677324186677325Human
407410701GWAS1059677_Hprotein DEPP measurement QTL GWAS1059677 (human)4e-167protein DEPP measurement3186675997186675998Human
407394829GWAS1043805_Hsemaphorin-3A measurement QTL GWAS1043805 (human)3e-10semaphorin-3A measurement3186677324186677325Human
407191567GWAS840543_Hblood protein measurement QTL GWAS840543 (human)1e-39blood protein measurementblood protein measurement (CMO:0000028)3186676249186676250Human
407191563GWAS840539_Hblood protein measurement QTL GWAS840539 (human)4e-218blood protein measurementblood protein measurement (CMO:0000028)3186676249186676250Human
407188746GWAS837722_Hblood protein measurement QTL GWAS837722 (human)4e-22blood protein measurementblood protein measurement (CMO:0000028)3186676249186676250Human
407020817GWAS669793_Hpartial thromboplastin time QTL GWAS669793 (human)1e-111partial thromboplastin timeactivated partial thromboplastin time (CMO:0000210)3186672838186672839Human
407153175GWAS802151_Hprotein DEPP measurement QTL GWAS802151 (human)3e-531protein DEPP measurement3186676249186676250Human
407191570GWAS840546_HMAP kinase-activated protein kinase 3 measurement QTL GWAS840546 (human)3e-33MAP kinase-activated protein kinase 3 measurement3186675758186675759Human
407194909GWAS843885_Hpersulfide dioxygenase ETHE1, mitochondrial measurement QTL GWAS843885 (human)2e-22persulfide dioxygenase ETHE1, mitochondrial measurement3186672838186672839Human
407186974GWAS835950_Hprotocadherin-10 measurement QTL GWAS835950 (human)1e-1029protocadherin-10 measurement3186677647186677648Human
407194651GWAS843627_Hsolute carrier family 35 member G2 measurement QTL GWAS843627 (human)2e-74solute carrier family 35 member G2 measurement3186677324186677325Human
407193891GWAS842867_Hblood protein measurement QTL GWAS842867 (human)1e-58blood protein measurementblood protein measurement (CMO:0000028)3186676249186676250Human
407390510GWAS1039486_Hdual specificity mitogen-activated protein kinase kinase 4 measurement QTL GWAS1039486 (human)4e-82dual specificity mitogen-activated protein kinase kinase 4 measurement3186677324186677325Human
407156780GWAS805756_HHLA class II histocompatibility antigen, DP beta 1 chain measurement QTL GWAS805756 (human)4e-12HLA class II histocompatibility antigen, DP beta 1 chain measurement3186673485186673486Human
407257132GWAS906108_Hlevel of latexin in blood serum QTL GWAS906108 (human)2e-32level of latexin in blood serum3186672838186672839Human
407160367GWAS809343_HSUN domain-containing protein 5 measurement QTL GWAS809343 (human)3e-71SUN domain-containing protein 5 measurement3186677611186677612Human
407390499GWAS1039475_Hdual specificity mitogen-activated protein kinase kinase 4 measurement QTL GWAS1039475 (human)8e-78dual specificity mitogen-activated protein kinase kinase 4 measurement3186677647186677648Human
407390501GWAS1039477_Hestrogen receptor measurement QTL GWAS1039477 (human)6e-18estrogen receptor measurement3186677647186677648Human
406943791GWAS592767_Hpersulfide dioxygenase ETHE1, mitochondrial measurement QTL GWAS592767 (human)3e-13persulfide dioxygenase ETHE1, mitochondrial measurement3186671980186671981Human
407393339GWAS1042315_Hdual specificity mitogen-activated protein kinase kinase 4 measurement QTL GWAS1042315 (human)3e-98dual specificity mitogen-activated protein kinase kinase 4 measurement3186677324186677325Human
407418686GWAS1067662_Hblood protein measurement QTL GWAS1067662 (human)6e-19blood protein measurementblood protein measurement (CMO:0000028)3186671021186671022Human
406947638GWAS596614_Hmicrofibrillar-associated protein 2 measurement QTL GWAS596614 (human)4e-28microfibrillar-associated protein 2 measurement3186675997186675998Human
407186489GWAS835465_Hhistidine-rich glycoprotein measurement QTL GWAS835465 (human)6e-268histidine-rich glycoprotein measurement3186672838186672839Human
407183301GWAS832277_Hblood protein measurement QTL GWAS832277 (human)4e-90blood protein measurementblood protein measurement (CMO:0000028)3186673485186673486Human
407201223GWAS850199_HCD27 antigen measurement QTL GWAS850199 (human)2e-19CD27 antigen measurement3186672838186672839Human
407166401GWAS815377_Hblood protein measurement QTL GWAS815377 (human)8e-11blood protein measurementblood protein measurement (CMO:0000028)3186677324186677325Human
407183299GWAS832275_Hblood protein measurement QTL GWAS832275 (human)2e-13blood protein measurementblood protein measurement (CMO:0000028)3186675758186675759Human
407350977GWAS999953_Htransmembrane protein 87B measurement QTL GWAS999953 (human)2e-52transmembrane protein 87B measurement3186677324186677325Human
407185091GWAS834067_HBCL2/adenovirus E1B 19 kDa protein-interacting protein 3 measurement QTL GWAS834067 (human)7e-27BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 measurement3186677647186677648Human
407354071GWAS1003047_Hleucine-rich PPR motif-containing protein, mitochondrial measurement QTL GWAS1003047 (human)2e-165leucine-rich PPR motif-containing protein, mitochondrial measurement3186677324186677325Human
406948307GWAS597283_Hmicrofibrillar-associated protein 2 measurement QTL GWAS597283 (human)4e-70microfibrillar-associated protein 2 measurement3186675758186675759Human
407174102GWAS823078_Hprotein measurement QTL GWAS823078 (human)7e-36protein measurement3186677647186677648Human
407193808GWAS842784_Hblood protein measurement QTL GWAS842784 (human)3e-15blood protein measurementblood protein measurement (CMO:0000028)3186671770186671771Human
407354064GWAS1003040_HUPF0577 protein KIAA1324-like measurement QTL GWAS1003040 (human)3e-76UPF0577 protein KIAA1324-like measurement3186677647186677648Human
407209426GWAS858402_Hnon-histone chromosomal protein HMG-14 measurement QTL GWAS858402 (human)1e-465non-histone chromosomal protein HMG-14 measurement3186677647186677648Human
407180251GWAS829227_Hsemaphorin-3A measurement QTL GWAS829227 (human)7e-14semaphorin-3A measurement3186673485186673486Human
407192039GWAS841015_Hblood protein measurement QTL GWAS841015 (human)7e-60blood protein measurementblood protein measurement (CMO:0000028)3186673485186673486Human
407177697GWAS826673_Hdual specificity mitogen-activated protein kinase kinase 4 measurement QTL GWAS826673 (human)9e-116dual specificity mitogen-activated protein kinase kinase 4 measurement3186676249186676250Human
407181794GWAS830770_Hblood protein measurement QTL GWAS830770 (human)2e-19blood protein measurementblood protein measurement (CMO:0000028)3186675758186675759Human
406952427GWAS601403_Hsodium- and chloride-dependent neutral and basic amino acid transporter B(0+) measurement QTL GWAS601403 (human)2e-56sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) measurement3186672039186672040Human
406992616GWAS641592_Hprotein measurement QTL GWAS641592 (human)9e-415protein measurement3186675997186675998Human
407192040GWAS841016_Hblood protein measurement QTL GWAS841016 (human)1e-272blood protein measurementblood protein measurement (CMO:0000028)3186675758186675759Human
407181802GWAS830778_Hblood protein measurement QTL GWAS830778 (human)3e-20blood protein measurementblood protein measurement (CMO:0000028)3186676249186676250Human
407177974GWAS826950_Hdual specificity mitogen-activated protein kinase kinase 4 measurement QTL GWAS826950 (human)2e-107dual specificity mitogen-activated protein kinase kinase 4 measurement3186675758186675759Human
407415037GWAS1064013_Hleucine-rich PPR motif-containing protein, mitochondrial measurement QTL GWAS1064013 (human)9e-12leucine-rich PPR motif-containing protein, mitochondrial measurement3186668987186668988Human
407215357GWAS864333_Hprotein measurement QTL GWAS864333 (human)4e-2135protein measurement3186677647186677648Human
406992635GWAS641611_Hprotein DEPP measurement QTL GWAS641611 (human)7e-494protein DEPP measurement3186675758186675759Human
407410417GWAS1059393_Hprotocadherin-10 measurement QTL GWAS1059393 (human)2e-290protocadherin-10 measurement3186676432186676433Human
407410418GWAS1059394_Hprotocadherin-10 measurement QTL GWAS1059394 (human)5e-18protocadherin-10 measurement3186672039186672040Human
407023102GWAS672078_Hprotein measurement QTL GWAS672078 (human)2e-3111protein measurement3186675758186675759Human
407023101GWAS672077_Hprotein measurement QTL GWAS672077 (human)1e-179protein measurement3186668362186668363Human
407194501GWAS843477_Hblood protein measurement QTL GWAS843477 (human)3e-288blood protein measurementblood protein measurement (CMO:0000028)3186676249186676250Human
407194500GWAS843476_Hblood protein measurement QTL GWAS843476 (human)5e-136blood protein measurementblood protein measurement (CMO:0000028)3186676249186676250Human
407194502GWAS843478_Hblood protein measurement QTL GWAS843478 (human)2e-32blood protein measurementblood protein measurement (CMO:0000028)3186669658186669659Human
407194499GWAS843475_Hblood protein measurement QTL GWAS843475 (human)5e-246blood protein measurementblood protein measurement (CMO:0000028)3186675758186675759Human
407344256GWAS993232_Hnon-histone chromosomal protein HMG-14 measurement QTL GWAS993232 (human)1e-131non-histone chromosomal protein HMG-14 measurement3186677647186677648Human
407411073GWAS1060049_HNTF2-related export protein 1 measurement QTL GWAS1060049 (human)7e-22NTF2-related export protein 1 measurement3186677783186677784Human
407189134GWAS838110_Hreceptor-interacting serine/threonine-protein kinase 2 measurement QTL GWAS838110 (human)2e-36receptor-interacting serine/threonine-protein kinase 2 measurement3186677647186677648Human
407027342GWAS676318_Hcerebrospinal fluid biomarker measurement QTL GWAS676318 (human)5e-10cerebrospinal fluid biomarker measurementcerebrospinal fluid chemistry measurement (CMO:0001241)3186672838186672839Human
407192733GWAS841709_Hblood protein measurement QTL GWAS841709 (human)2e-258blood protein measurementblood protein measurement (CMO:0000028)3186675758186675759Human
407114398GWAS763374_Htyrosine measurement QTL GWAS763374 (human)1e-12tyrosine measurement3186671980186671981Human
407396266GWAS1045242_Hnon-histone chromosomal protein HMG-14 measurement QTL GWAS1045242 (human)2e-276non-histone chromosomal protein HMG-14 measurement3186677647186677648Human
407190694GWAS839670_Hblood protein measurement QTL GWAS839670 (human)9e-14blood protein measurementblood protein measurement (CMO:0000028)3186675758186675759Human
407155362GWAS804338_HE3 ubiquitin-protein ligase RNF13 measurement QTL GWAS804338 (human)5e-25E3 ubiquitin-protein ligase RNF13 measurement3186673485186673486Human
407182755GWAS831731_Hblood protein measurement QTL GWAS831731 (human)3e-103blood protein measurementblood protein measurement (CMO:0000028)3186676249186676250Human
407417775GWAS1066751_Hblood protein measurement QTL GWAS1066751 (human)1e-100blood protein measurementblood protein measurement (CMO:0000028)3186677783186677784Human
406940328GWAS589304_Hanosmin-1 measurement QTL GWAS589304 (human)7e-203anosmin-1 measurement3186677783186677784Human
407182768GWAS831744_Hblood protein measurement QTL GWAS831744 (human)3e-57blood protein measurementblood protein measurement (CMO:0000028)3186675758186675759Human
407053493GWAS702469_Hprotein measurement QTL GWAS702469 (human)4e-40protein measurement3186669510186669511Human
406970294GWAS619270_Hprotein measurement QTL GWAS619270 (human)6e-19protein measurement3186675758186675759Human
406949053GWAS598029_HE3 ubiquitin-protein ligase RNF13 measurement QTL GWAS598029 (human)9e-21E3 ubiquitin-protein ligase RNF13 measurement3186671980186671981Human
407190713GWAS839689_Hblood protein measurement QTL GWAS839689 (human)1e-16blood protein measurementblood protein measurement (CMO:0000028)3186675758186675759Human
407024319GWAS673295_Hprotein measurement QTL GWAS673295 (human)4e-18protein measurement3186672838186672839Human

Markers in Region
GDB:181212  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,395,676 - 186,395,984UniSTSGRCh37
Build 363187,878,370 - 187,878,678RGDNCBI36
Celera3184,832,109 - 184,832,417RGD
Cytogenetic Map3q27UniSTS
HuRef3183,805,345 - 183,805,653UniSTS
GDB:206583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,392,991 - 186,393,232UniSTSGRCh37
Build 363187,875,685 - 187,875,926RGDNCBI36
Celera3184,829,422 - 184,829,665RGD
Cytogenetic Map3q27UniSTS
HuRef3183,802,663 - 183,802,902UniSTS
SHGC-77619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,395,798 - 186,395,993UniSTSGRCh37
Build 363187,878,492 - 187,878,687RGDNCBI36
Celera3184,832,231 - 184,832,426RGD
Cytogenetic Map3q27UniSTS
HuRef3183,805,467 - 183,805,662UniSTS
TNG Radiation Hybrid Map346981.0UniSTS
GeneMap99-GB4 RH Map3697.1UniSTS
D3S4002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373186,395,677 - 186,396,004UniSTSGRCh37
Build 363187,878,371 - 187,878,698RGDNCBI36
Celera3184,832,110 - 184,832,437RGD
Cytogenetic Map3q27UniSTS
HuRef3183,805,346 - 183,805,673UniSTS
Whitehead-YAC Contig Map3 UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB005803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI800281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA637240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB128993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H97733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z17218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000232003   ⟹   ENSP00000232003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,666,014 - 186,678,234 (+)Ensembl
Ensembl Acc Id: ENST00000468154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,660,216 - 186,666,181 (+)Ensembl
Ensembl Acc Id: ENST00000495413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3186,668,978 - 186,678,231 (+)Ensembl
RefSeq Acc Id: NM_000412   ⟹   NP_000403
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,666,014 - 186,678,234 (+)NCBI
GRCh373186,383,747 - 186,396,023 (+)NCBI
Build 363187,866,492 - 187,878,717 (+)NCBI Archive
HuRef3183,793,419 - 183,805,692 (+)NCBI
CHM1_13186,347,695 - 186,359,980 (+)NCBI
T2T-CHM13v2.03189,487,766 - 189,499,996 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005247415   ⟹   XP_005247472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,666,014 - 186,678,234 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054346411   ⟹   XP_054202386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03189,487,766 - 189,499,996 (+)NCBI
RefSeq Acc Id: NP_000403   ⟸   NM_000412
- Peptide Label: precursor
- UniProtKB: B9EK35 (UniProtKB/Swiss-Prot),   D3DNU7 (UniProtKB/Swiss-Prot),   P04196 (UniProtKB/Swiss-Prot),   B2R8I2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247472   ⟸   XM_005247415
- Peptide Label: isoform X1
- UniProtKB: B2R8I2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000232003   ⟸   ENST00000232003
RefSeq Acc Id: XP_054202386   ⟸   XM_054346411
- Peptide Label: isoform X1
- UniProtKB: B2R8I2 (UniProtKB/TrEMBL)
Protein Domains
Cystatin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04196-F1-model_v2 AlphaFold P04196 1-525 view protein structure

Promoters
RGD ID:6866540
Promoter ID:EPDNEW_H6435
Type:initiation region
Name:HRG_1
Description:histidine rich glycoprotein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383186,665,990 - 186,666,050EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5181 AgrOrtholog
COSMIC HRG COSMIC
Ensembl Genes ENSG00000113905 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000232003 ENTREZGENE
  ENST00000232003.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.450.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000113905 GTEx
HGNC ID HGNC:5181 ENTREZGENE
Human Proteome Map HRG Human Proteome Map
InterPro Cystatin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cystatin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kininogen_Fetuin_HRG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3273 UniProtKB/Swiss-Prot
NCBI Gene 3273 ENTREZGENE
OMIM 142640 OMIM
PANTHER FETUIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HISTIDINE-RICH GLYCOPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cystatin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29455 PharmGKB
SMART SM00043 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Cystatin/monellin UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt B2R8I2 ENTREZGENE, UniProtKB/TrEMBL
  B9EK35 ENTREZGENE
  D3DNU7 ENTREZGENE
  HRG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B9EK35 UniProtKB/Swiss-Prot
  D3DNU7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 HRG  histidine rich glycoprotein  HRG  histidine-rich glycoprotein  Symbol and/or name change 5135510 APPROVED