APOA5 (apolipoprotein A5) - Rat Genome Database

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Gene: APOA5 (apolipoprotein A5) Homo sapiens
Analyze
Symbol: APOA5
Name: apolipoprotein A5
RGD ID: 736192
HGNC Page HGNC:17288
Description: Enables several functions, including heparin binding activity; lipase binding activity; and lipoprotein lipase activator activity. Involved in several processes, including cholesterol homeostasis; positive regulation of lipid metabolic process; and positive regulation of very-low-density lipoprotein particle remodeling. Located in extracellular space. Part of chylomicron; high-density lipoprotein particle; and very-low-density lipoprotein particle. Implicated in cerebral infarction; coronary artery disease; familial hyperlipidemia (multiple); and type 2 diabetes mellitus. Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: apo-AV; APOA-V; APOAV; apolipoprotein A-V; apolipoprotein A-V precursor variant 3; FLJ97995; MGC126836; MGC126838; RAP3; regeneration-associated protein 3
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
GRCh3811116,789,367 - 116,792,420 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11116,789,367 - 116,792,420 (-)EnsemblGRCh38hg38GRCh38
GRCh3711116,660,083 - 116,663,136 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,165,296 - 116,167,794 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411116,165,296 - 116,167,794NCBI
Celera11113,815,476 - 113,818,526 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11112,592,079 - 112,595,129 (-)NCBIHuRef
CHM1_111116,544,726 - 116,547,776 (-)NCBICHM1_1
T2T-CHM13v2.011116,803,991 - 116,807,044 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-hexachlorocyclohexane  (ISO)
beta-naphthoflavone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
C60 fullerene  (ISO)
CGP 52608  (EXP)
clofibrate  (ISO)
clozapine  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dicrotophos  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
farnesol  (EXP)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
graphite  (ISO)
GW 4064  (EXP)
GW 7647  (EXP)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
indometacin  (ISO)
inulin  (ISO)
isoniazide  (ISO)
L-methionine  (ISO)
menadione  (EXP)
metformin  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
oleic acid  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorobutanesulfonic acid  (ISO)
perfluoroheptanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorohexanoic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
potassium dichromate  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
rotenone  (ISO)
silibinin  (ISO)
sodium arsenite  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Association of APOA5 -1131T>C and S19W gene polymorphisms with both mild hypertriglyceridemia and hyperchylomicronemia in type 2 diabetic patients. Charriere S, etal., Clin Chim Acta. 2008 Aug;394(1-2):99-103. Epub 2008 Apr 27.
3. SINGLE NUCLEOTIDE POLYMORPHISMS THAT INFLUENCE LIPID METABOLISM: Interaction with Dietary Factors. Corella D and Ordovas JM, Annu Rev Nutr. 2005;25:341-90.
4. The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides. Dallongeville J, etal., BMC Med Genet. 2008 Sep 12;9:84.
5. T-1131-->C polymorphism within the apolipoprotein AV gene in hypertriglyceridemic individuals. Horinek A, etal., Atherosclerosis. 2003 Apr;167(2):369-70.
6. Apolipoprotein A5 and hypertriglyceridemia in Prague hypertriglyceridemic rats. Kadlecova M, etal., Physiol Res. 2006;55(4):373-9. Epub 2005 Oct 17.
7. APOA5 gene polymorphism modulates levels of triglyceride, HDL cholesterol and FERHDL but is not a risk factor for coronary artery disease. Lee KW, etal., Atherosclerosis. 2004 Sep;176(1):165-72.
8. Polymorphism of apolipoprotein A5 is a risk factor for cerebral infarction in type 2 diabetes. Li X, etal., J Huazhong Univ Sci Technolog Med Sci. 2008 Dec;28(6):653-6. Epub 2008 Dec 24.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Pennacchio LA, etal., Science 2001 Oct 5;294(5540):169-73.
11. Thyroid hormone regulates the hypotriglyceridemic gene APOA5. Prieur X, etal., J Biol Chem. 2005 Jul 29;280(30):27533-43. Epub 2005 Jun 7.
12. Postprandial increase of plasma apoAV concentrations in Type 2 diabetic patients. Pruneta-Deloche V, etal., Atherosclerosis. 2005 Aug;181(2):403-5. Epub 2005 Feb 17.
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. Polymorphism in the promoter region of the apolipoprotein A5 gene is associated with an increased susceptibility for coronary artery disease. Szalai C, etal., Atherosclerosis. 2004 Mar;173(1):109-14.
17. Apolipoprotein A-V: a novel apolipoprotein associated with an early phase of liver regeneration. van der Vliet HN, etal., J Biol Chem 2001 Nov 30;276(48):44512-20.
18. Four pairs of gene-gene interactions associated with increased risk for type 2 diabetes (CDKN2BAS-KCNJ11), obesity (SLC2A9-IGF2BP2, FTO-APOA5), and hypertension (MC4R-IGF2BP2) in Chinese women. Wang MH, etal., Meta Gene. 2014 May 21;2:384-91. doi: 10.1016/j.mgene.2014.04.010. eCollection 2014 Dec.
19. Apolipoprotein AIV gene variant S347 is associated with increased risk of coronary heart disease and lower plasma apolipoprotein AIV levels. Wong WM, etal., Circ Res. 2003 May 16;92(9):969-75. Epub 2003 Apr 3.
20. Association of APOA5 c.553G>T polymorphism with type 2 diabetes mellitus in a Chinese population. Zhai G, etal., Clin Chem Lab Med. 2006;44(11):1313-6.
21. [Association of apolipoprotein A5 gene -1131T/C polymorphism with lipid metabolism and insulin resistance in patients with type II diabetes mellitus] Zhai GH, etal., Yi Chuan. 2007 May;29(5):541-6.
Additional References at PubMed
PMID:12417270   PMID:12417524   PMID:12417525   PMID:12436249   PMID:12477932   PMID:12615678   PMID:12637506   PMID:12671030   PMID:12697303   PMID:12709436   PMID:12747596   PMID:12752569  
PMID:12810715   PMID:12899628   PMID:12915450   PMID:12920097   PMID:12937897   PMID:12951359   PMID:12975309   PMID:14613578   PMID:14729863   PMID:14732475   PMID:14959997   PMID:14984471  
PMID:15046561   PMID:15108119   PMID:15117734   PMID:15131258   PMID:15135251   PMID:15151505   PMID:15157276   PMID:15178420   PMID:15300628   PMID:15317819   PMID:15342688   PMID:15369751  
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PMID:19121291   PMID:19141870   PMID:19148283   PMID:19150068   PMID:19159622   PMID:19185284   PMID:19185864   PMID:19187029   PMID:19207029   PMID:19253837   PMID:19336370   PMID:19336475  
PMID:19343127   PMID:19344899   PMID:19362162   PMID:19403283   PMID:19410254   PMID:19447388   PMID:19530961   PMID:19534808   PMID:19567162   PMID:19578796   PMID:19592705   PMID:19629056  
PMID:19656773   PMID:19665689   PMID:19692219   PMID:19701693   PMID:19732897   PMID:19765959   PMID:19825998   PMID:19828688   PMID:19847674   PMID:19878569   PMID:19910639   PMID:19913121  
PMID:19915960   PMID:19932084   PMID:19948975   PMID:20031591   PMID:20047745   PMID:20054229   PMID:20059973   PMID:20134407   PMID:20137539   PMID:20139978   PMID:20160193   PMID:20170397  
PMID:20303129   PMID:20304614   PMID:20331378   PMID:20392444   PMID:20395964   PMID:20400780   PMID:20413122   PMID:20429872   PMID:20430392   PMID:20442857   PMID:20452521   PMID:20469899  
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PMID:37768328   PMID:38117614   PMID:38331899  


Genomics

Comparative Map Data
APOA5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811116,789,367 - 116,792,420 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11116,789,367 - 116,792,420 (-)EnsemblGRCh38hg38GRCh38
GRCh3711116,660,083 - 116,663,136 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611116,165,296 - 116,167,794 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411116,165,296 - 116,167,794NCBI
Celera11113,815,476 - 113,818,526 (-)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11112,592,079 - 112,595,129 (-)NCBIHuRef
CHM1_111116,544,726 - 116,547,776 (-)NCBICHM1_1
T2T-CHM13v2.011116,803,991 - 116,807,044 (-)NCBIT2T-CHM13v2.0
Apoa5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39946,179,906 - 46,183,219 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl946,179,931 - 46,183,217 (+)EnsemblGRCm39 Ensembl
GRCm38946,268,608 - 46,271,921 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl946,268,633 - 46,271,919 (+)EnsemblGRCm38mm10GRCm38
MGSCv37946,076,691 - 46,080,002 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36946,019,603 - 46,022,914 (+)NCBIMGSCv36mm8
Celera943,557,616 - 43,560,927 (+)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map925.37NCBI
Apoa5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8855,446,329 - 55,460,509 (+)NCBIGRCr8
mRatBN7.2846,561,180 - 46,563,818 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl846,561,229 - 46,563,816 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx852,062,457 - 52,065,145 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0850,341,227 - 50,343,915 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0848,205,503 - 48,208,191 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0850,559,079 - 50,561,720 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl850,559,126 - 50,561,736 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0849,185,041 - 49,187,682 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4849,253,538 - 49,255,777 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1849,265,341 - 49,267,579 (+)NCBI
Celera846,142,946 - 46,145,584 (+)NCBICelera
Cytogenetic Map8q22NCBI
Apoa5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541218,129,603 - 18,131,115 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541218,128,861 - 18,131,752 (-)NCBIChiLan1.0ChiLan1.0
APOA5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29117,490,147 - 117,492,677 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111118,595,361 - 118,597,891 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011111,625,403 - 111,627,932 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111115,559,231 - 115,562,286 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11115,559,231 - 115,562,286 (-)Ensemblpanpan1.1panPan2
APOA5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1516,774,117 - 16,777,535 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl516,774,501 - 16,777,768 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha516,826,641 - 16,829,696 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0516,721,181 - 16,724,236 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl516,721,199 - 16,723,685 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1516,858,043 - 16,861,098 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0516,760,620 - 16,763,675 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0516,803,753 - 16,806,810 (+)NCBIUU_Cfam_GSD_1.0
Apoa5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494799,147,591 - 99,149,935 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365422,069,683 - 2,071,353 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365422,069,683 - 2,071,344 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APOA5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl944,178,606 - 44,180,885 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1944,177,834 - 44,180,880 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2949,251,674 - 49,254,883 (-)NCBISscrofa10.2Sscrofa10.2susScr3
APOA5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11108,154,880 - 108,158,998 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1108,155,641 - 108,157,375 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604317,891,675 - 17,894,161 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Apoa5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478412,213,744 - 12,216,026 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478412,213,205 - 12,216,039 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in APOA5
195 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001371904.1(APOA5):c.553G>T (p.Gly185Cys) single nucleotide variant Cardiovascular phenotype [RCV002345230]|Hypertriglyceridemia 1 [RCV001262207]|not provided [RCV001650829]|not specified [RCV004525843] Chr11:116790676 [GRCh38]
Chr11:116661392 [GRCh37]
Chr11:11q23.3		 risk factor|benign|likely benign|uncertain significance
NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp) single nucleotide variant Cardiovascular phenotype [RCV002345231]|Familial type 5 hyperlipoproteinemia [RCV002504745]|Hypertriglyceridemia 1 [RCV000004653]|not provided [RCV002054414]|not specified [RCV003323351] Chr11:116791691 [GRCh38]
Chr11:116662407 [GRCh37]
Chr11:11q23.3		 risk factor|benign|likely benign
NM_001371904.1(APOA5):c.415C>T (p.Gln139Ter) single nucleotide variant Familial type 5 hyperlipoproteinemia [RCV000004654] Chr11:116790814 [GRCh38]
Chr11:116661530 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3 copy number gain See cases [RCV000053640] Chr11:116436425..118046231 [GRCh38]
Chr11:116307142..117916946 [GRCh37]
Chr11:115812352..117422156 [NCBI36]
Chr11:11q23.3		 pathogenic
NM_052968.4(APOA5):c.-644C>T single nucleotide variant atorvastatin response - Efficacy [RCV000660843]|lovastatin response - Efficacy [RCV000660844]|simvastatin response - Efficacy [RCV000660845] Chr11:116792991 [GRCh38]
Chr11:116663707 [GRCh37]
Chr11:11q23.3		 drug response
NM_001371904.1(APOA5):c.*158C>T single nucleotide variant Hypertriglyceridemia 1 [RCV000114996]|not provided [RCV001647125] Chr11:116789970 [GRCh38]
Chr11:116660686 [GRCh37]
Chr11:11q23.3		 risk factor|benign
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3 copy number gain See cases [RCV000137585] Chr11:115647670..117581883 [GRCh38]
Chr11:115518388..117452598 [GRCh37]
Chr11:115023598..116957808 [NCBI36]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001371904.1(APOA5):c.962A>T (p.His321Leu) single nucleotide variant Cardiovascular phenotype [RCV002377220]|not provided [RCV000585917] Chr11:116790267 [GRCh38]
Chr11:116660983 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001371904.1(APOA5):c.696C>G (p.Ser232=) single nucleotide variant Cardiovascular phenotype [RCV002367994]|not provided [RCV000586373] Chr11:116790533 [GRCh38]
Chr11:116661249 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001371904.1(APOA5):c.764A>G (p.Glu255Gly) single nucleotide variant not provided [RCV000588059] Chr11:116790465 [GRCh38]
Chr11:116661181 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.975C>T (p.Ala325=) single nucleotide variant Cardiovascular phenotype [RCV002377221]|not provided [RCV000588180] Chr11:116790254 [GRCh38]
Chr11:116660970 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.457G>A (p.Val153Met) single nucleotide variant Cardiovascular phenotype [RCV002341508]|not provided [RCV000589031] Chr11:116790772 [GRCh38]
Chr11:116661488 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.132C>A (p.Ile44=) single nucleotide variant Cardiovascular phenotype [RCV002384289]|not provided [RCV000587343] Chr11:116791615 [GRCh38]
Chr11:116662331 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) single nucleotide variant Cardiovascular phenotype [RCV002448828]|not provided [RCV000589779] Chr11:116790285 [GRCh38]
Chr11:116661001 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001371904.1(APOA5):c.111C>A (p.Asp37Glu) single nucleotide variant Cardiovascular phenotype [RCV002438530]|not provided [RCV000586242] Chr11:116791636 [GRCh38]
Chr11:116662352 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001371904.1(APOA5):c.118A>G (p.Arg40Gly) single nucleotide variant Cardiovascular phenotype [RCV002339064]|not provided [RCV000439005] Chr11:116791629 [GRCh38]
Chr11:116662345 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter) single nucleotide variant Cardiovascular phenotype [RCV002436266]|Familial type 5 hyperlipoproteinemia [RCV002289560]|Hypertriglyceridemia 1 [RCV000768551]|Hypertriglyceridemia [RCV001249015]|not provided [RCV000428946] Chr11:116790940 [GRCh38]
Chr11:116661656 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001371904.1(APOA5):c.937C>T (p.Gln313Ter) single nucleotide variant not provided [RCV000478434] Chr11:116790292 [GRCh38]
Chr11:116661008 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001371904.1(APOA5):c.586G>A (p.Glu196Lys) single nucleotide variant Cardiovascular phenotype [RCV003278339] Chr11:116790643 [GRCh38]
Chr11:116661359 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.624G>A (p.Glu208=) single nucleotide variant Cardiovascular phenotype [RCV003278340] Chr11:116790605 [GRCh38]
Chr11:116661321 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.641C>T (p.Ala214Val) single nucleotide variant Cardiovascular phenotype [RCV003278342] Chr11:116790588 [GRCh38]
Chr11:116661304 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.521A>G (p.Gln174Arg) single nucleotide variant Cardiovascular phenotype [RCV003278343]|not provided [RCV003549053] Chr11:116790708 [GRCh38]
Chr11:116661424 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.535C>T (p.Arg179Cys) single nucleotide variant Cardiovascular phenotype [RCV004308629] Chr11:116790694 [GRCh38]
Chr11:116661410 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.932A>G (p.Gln311Arg) single nucleotide variant Cardiovascular phenotype [RCV003311084] Chr11:116790297 [GRCh38]
Chr11:116661013 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001371904.1(APOA5):c.*286AG[3] microsatellite not provided [RCV001611713] Chr11:116789838..116789839 [GRCh38]
Chr11:116660554..116660555 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.168G>A (p.Leu56=) single nucleotide variant APOA5-related disorder [RCV003966173]|Cardiovascular phenotype [RCV002414258]|not provided [RCV001547586] Chr11:116791061 [GRCh38]
Chr11:116661777 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.50-28G>A single nucleotide variant not provided [RCV001566261] Chr11:116791725 [GRCh38]
Chr11:116662441 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.*172C>T single nucleotide variant not provided [RCV001574293] Chr11:116789956 [GRCh38]
Chr11:116660672 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.945G>A (p.Ala315=) single nucleotide variant Cardiovascular phenotype [RCV004028484]|not provided [RCV000898403] Chr11:116790284 [GRCh38]
Chr11:116661000 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.165C>G (p.Thr55=) single nucleotide variant Cardiovascular phenotype [RCV002400116]|not provided [RCV000960273]|not specified [RCV003323767] Chr11:116791064 [GRCh38]
Chr11:116661780 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001371904.1(APOA5):c.50-9dup duplication not provided [RCV000908649] Chr11:116791705..116791706 [GRCh38]
Chr11:116662421..116662422 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.916G>A (p.Glu306Lys) single nucleotide variant Cardiovascular phenotype [RCV003311083] Chr11:116790313 [GRCh38]
Chr11:116661029 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1 copy number loss not provided [RCV000848741] Chr11:104101411..116680918 [GRCh37]
Chr11:11q22.3-23.3		 pathogenic
NM_001371904.1(APOA5):c.292GAG[1] (p.Glu99del) microsatellite not provided [RCV000845420] Chr11:116790932..116790934 [GRCh38]
Chr11:116661648..116661650 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) single nucleotide variant Cardiovascular phenotype [RCV002424992]|Familial type 5 hyperlipoproteinemia [RCV002246434]|Familial type 5 hyperlipoproteinemia [RCV002501921]|Hypertriglyceridemia 1 [RCV003147637]|not provided [RCV001570903] Chr11:116790406 [GRCh38]
Chr11:116661122 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001371904.1(APOA5):c.49+55G>T single nucleotide variant not provided [RCV001658519] Chr11:116791757 [GRCh38]
Chr11:116662473 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.887T>G (p.Ile296Arg) single nucleotide variant not provided [RCV001559811] Chr11:116790342 [GRCh38]
Chr11:116661058 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.648C>T (p.His216=) single nucleotide variant Cardiovascular phenotype [RCV002359170]|not provided [RCV001555584] Chr11:116790581 [GRCh38]
Chr11:116661297 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3(chr11:116660464-116711974)x1 copy number loss not provided [RCV002472758] Chr11:116660464..116711974 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.162-43A>G single nucleotide variant not provided [RCV001723230] Chr11:116791110 [GRCh38]
Chr11:116661826 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.*31C>T single nucleotide variant not provided [RCV001717563] Chr11:116790097 [GRCh38]
Chr11:116660813 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.-3G>A single nucleotide variant not specified [RCV001699893] Chr11:116791863 [GRCh38]
Chr11:116662579 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.162-251del deletion not provided [RCV001652879] Chr11:116791318 [GRCh38]
Chr11:116662034 [GRCh37]
Chr11:11q23.3		 benign
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs) microsatellite Cardiovascular phenotype [RCV003166584]|Familial type 5 hyperlipoproteinemia [RCV002246249]|Hypertriglyceridemia 1 [RCV001836651]|not provided [RCV001256823] Chr11:116790236..116790239 [GRCh38]
Chr11:116660952..116660955 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001371904.1(APOA5):c.494G>C (p.Gly165Ala) single nucleotide variant Hyperlipoproteinemia, type I [RCV001256824] Chr11:116790735 [GRCh38]
Chr11:116661451 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.139C>T (p.Gln47Ter) single nucleotide variant Familial type 5 hyperlipoproteinemia [RCV001335313] Chr11:116791608 [GRCh38]
Chr11:116662324 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001371904.1(APOA5):c.579_592del (p.Tyr194fs) deletion Familial type 5 hyperlipoproteinemia [RCV001290185] Chr11:116790637..116790650 [GRCh38]
Chr11:116661353..116661366 [GRCh37]
Chr11:11q23.3		 pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_001371904.1(APOA5):c.761G>T (p.Arg254Leu) single nucleotide variant not provided [RCV001358564] Chr11:116790468 [GRCh38]
Chr11:116661184 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.434A>G (p.Gln145Arg) single nucleotide variant not provided [RCV001726630]|not specified [RCV001699735] Chr11:116790795 [GRCh38]
Chr11:116661511 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_001371904.1(APOA5):c.551C>G (p.Thr184Ser) single nucleotide variant not provided [RCV001756706]|not specified [RCV002246473] Chr11:116790678 [GRCh38]
Chr11:116661394 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.1028G>A (p.Arg343His) single nucleotide variant not specified [RCV002246967] Chr11:116790201 [GRCh38]
Chr11:116660917 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.212T>C (p.Leu71Pro) single nucleotide variant not specified [RCV002246970] Chr11:116791017 [GRCh38]
Chr11:116661733 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.749T>C (p.Leu250Pro) single nucleotide variant not provided [RCV001768553] Chr11:116790480 [GRCh38]
Chr11:116661196 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.763G>A (p.Glu255Lys) single nucleotide variant not provided [RCV001756704] Chr11:116790466 [GRCh38]
Chr11:116661182 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.161+5G>C single nucleotide variant not provided [RCV001869793]|not specified [RCV001817909] Chr11:116791581 [GRCh38]
Chr11:116662297 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.153C>T (p.Arg51=) single nucleotide variant not provided [RCV001929555] Chr11:116791594 [GRCh38]
Chr11:116662310 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
NM_001371904.1(APOA5):c.659G>T (p.Ser220Ile) single nucleotide variant not provided [RCV001916779] Chr11:116790570 [GRCh38]
Chr11:116661286 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_001371904.1(APOA5):c.905C>T (p.Ala302Val) single nucleotide variant Cardiovascular phenotype [RCV004043124]|not provided [RCV001978965] Chr11:116790324 [GRCh38]
Chr11:116661040 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.111del (p.Asp37fs) deletion Cardiovascular phenotype [RCV004041853]|not provided [RCV001936287] Chr11:116791636 [GRCh38]
Chr11:116662352 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_001371904.1(APOA5):c.407T>C (p.Leu136Pro) single nucleotide variant not provided [RCV002223371] Chr11:116790822 [GRCh38]
Chr11:116661538 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.770T>C (p.Leu257Pro) single nucleotide variant not provided [RCV002223519] Chr11:116790459 [GRCh38]
Chr11:116661175 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.847C>T (p.Gln283Ter) single nucleotide variant not provided [RCV002224715] Chr11:116790382 [GRCh38]
Chr11:116661098 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001371904.1(APOA5):c.888del (p.Ile296fs) deletion Cardiovascular phenotype [RCV002443271]|not provided [RCV002224724] Chr11:116790341 [GRCh38]
Chr11:116661057 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter) single nucleotide variant Cardiovascular phenotype [RCV002373051]|not provided [RCV002224765] Chr11:116790316 [GRCh38]
Chr11:116661032 [GRCh37]
Chr11:11q23.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001371904.1(APOA5):c.429C>T (p.Arg143=) single nucleotide variant Cardiovascular phenotype [RCV002331692]|not provided [RCV002188166] Chr11:116790800 [GRCh38]
Chr11:116661516 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.607G>T (p.Gly203Trp) single nucleotide variant not specified [RCV002246969] Chr11:116790622 [GRCh38]
Chr11:116661338 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.427del (p.Arg143fs) deletion Cardiovascular phenotype [RCV002331847]|Familial type 5 hyperlipoproteinemia [RCV002290850]|not provided [RCV002224739] Chr11:116790802 [GRCh38]
Chr11:116661518 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001371904.1(APOA5):c.70C>A (p.Arg24=) single nucleotide variant APOA5-related disorder [RCV003958785]|Cardiovascular phenotype [RCV002363617]|not provided [RCV002149427] Chr11:116791677 [GRCh38]
Chr11:116662393 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.834C>G (p.Ser278=) single nucleotide variant Cardiovascular phenotype [RCV002441264]|not provided [RCV002170387] Chr11:116790395 [GRCh38]
Chr11:116661111 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.49+10C>T single nucleotide variant not provided [RCV002150099] Chr11:116791802 [GRCh38]
Chr11:116662518 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.618G>T (p.Val206=) single nucleotide variant not provided [RCV002160093] Chr11:116790611 [GRCh38]
Chr11:116661327 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.865C>T (p.Arg289Cys) single nucleotide variant not specified [RCV002246968] Chr11:116790364 [GRCh38]
Chr11:116661080 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.940C>T (p.Leu314=) single nucleotide variant APOA5-related disorder [RCV003923750]|not provided [RCV002121846]|not specified [RCV003323996] Chr11:116790289 [GRCh38]
Chr11:116661005 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.161+19G>A single nucleotide variant not provided [RCV002143290] Chr11:116791567 [GRCh38]
Chr11:116662283 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_116660844)_(117870356_?)del deletion Nephronophthisis 15 [RCV003119459]|not provided [RCV003109683] Chr11:116660844..117870356 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance|no classifications from unflagged records
NM_001371904.1(APOA5):c.578C>T (p.Pro193Leu) single nucleotide variant Cardiovascular phenotype [RCV004244596]|not provided [RCV003115152] Chr11:116790651 [GRCh38]
Chr11:116661367 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.1039C>A (p.Leu347Met) single nucleotide variant not specified [RCV002246966] Chr11:116790190 [GRCh38]
Chr11:116660906 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.480C>A (p.Ala160=) single nucleotide variant Cardiovascular phenotype [RCV003278338] Chr11:116790749 [GRCh38]
Chr11:116661465 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.615C>A (p.His205Gln) single nucleotide variant Cardiovascular phenotype [RCV003278341] Chr11:116790614 [GRCh38]
Chr11:116661330 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.875C>T (p.Thr292Ile) single nucleotide variant not provided [RCV002274653]|not specified [RCV004526194] Chr11:116790354 [GRCh38]
Chr11:116661070 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001371904.1(APOA5):c.663C>T (p.Pro221=) single nucleotide variant Cardiovascular phenotype [RCV002366783] Chr11:116790566 [GRCh38]
Chr11:116661282 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_001371904.1(APOA5):c.740A>G (p.Gln247Arg) single nucleotide variant Cardiovascular phenotype [RCV002384913] Chr11:116790489 [GRCh38]
Chr11:116661205 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.121G>A (p.Val41Met) single nucleotide variant Cardiovascular phenotype [RCV002368837] Chr11:116791626 [GRCh38]
Chr11:116662342 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.272G>A (p.Gly91Asp) single nucleotide variant Cardiovascular phenotype [RCV002453232] Chr11:116790957 [GRCh38]
Chr11:116661673 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.666G>T (p.Ala222=) single nucleotide variant Cardiovascular phenotype [RCV002366956]|not provided [RCV003776293] Chr11:116790563 [GRCh38]
Chr11:116661279 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.815C>T (p.Pro272Leu) single nucleotide variant Cardiovascular phenotype [RCV002421416] Chr11:116790414 [GRCh38]
Chr11:116661130 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.554G>A (p.Gly185Asp) single nucleotide variant Cardiovascular phenotype [RCV002351925] Chr11:116790675 [GRCh38]
Chr11:116661391 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.627G>T (p.Leu209=) single nucleotide variant Cardiovascular phenotype [RCV002368688] Chr11:116790602 [GRCh38]
Chr11:116661318 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.286C>T (p.Leu96=) single nucleotide variant Cardiovascular phenotype [RCV002437662] Chr11:116790943 [GRCh38]
Chr11:116661659 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.636T>C (p.Ser212=) single nucleotide variant Cardiovascular phenotype [RCV002369087]|not provided [RCV003098222] Chr11:116790593 [GRCh38]
Chr11:116661309 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.571T>A (p.Phe191Ile) single nucleotide variant Cardiovascular phenotype [RCV002347682] Chr11:116790658 [GRCh38]
Chr11:116661374 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.791C>A (p.Thr264Asn) single nucleotide variant Cardiovascular phenotype [RCV002416716] Chr11:116790438 [GRCh38]
Chr11:116661154 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg) single nucleotide variant Familial type 5 hyperlipoproteinemia [RCV002468470] Chr11:116790148 [GRCh38]
Chr11:116660864 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.693C>G (p.Leu231=) single nucleotide variant Cardiovascular phenotype [RCV002378134] Chr11:116790536 [GRCh38]
Chr11:116661252 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.1044G>A (p.Trp348Ter) single nucleotide variant Cardiovascular phenotype [RCV002392581]|not provided [RCV003096916] Chr11:116790185 [GRCh38]
Chr11:116660901 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.615C>G (p.His205Gln) single nucleotide variant Cardiovascular phenotype [RCV002353633] Chr11:116790614 [GRCh38]
Chr11:116661330 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.249T>C (p.Pro83=) single nucleotide variant Cardiovascular phenotype [RCV002431062] Chr11:116790980 [GRCh38]
Chr11:116661696 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.696C>A (p.Ser232=) single nucleotide variant Cardiovascular phenotype [RCV002362505] Chr11:116790533 [GRCh38]
Chr11:116661249 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.595G>A (p.Val199Met) single nucleotide variant Cardiovascular phenotype [RCV002356034] Chr11:116790634 [GRCh38]
Chr11:116661350 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.57G>C (p.Ser19=) single nucleotide variant Cardiovascular phenotype [RCV002359871] Chr11:116791690 [GRCh38]
Chr11:116662406 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.872A>T (p.Asp291Val) single nucleotide variant Cardiovascular phenotype [RCV002373493] Chr11:116790357 [GRCh38]
Chr11:116661073 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.874A>C (p.Thr292Pro) single nucleotide variant Cardiovascular phenotype [RCV002373538] Chr11:116790355 [GRCh38]
Chr11:116661071 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.333G>A (p.Met111Ile) single nucleotide variant Cardiovascular phenotype [RCV002326576] Chr11:116790896 [GRCh38]
Chr11:116661612 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.757C>T (p.Leu253=) single nucleotide variant Cardiovascular phenotype [RCV002394108] Chr11:116790472 [GRCh38]
Chr11:116661188 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.464G>A (p.Gly155Glu) single nucleotide variant Cardiovascular phenotype [RCV002330449] Chr11:116790765 [GRCh38]
Chr11:116661481 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.750G>A (p.Leu250=) single nucleotide variant Cardiovascular phenotype [RCV002393760] Chr11:116790479 [GRCh38]
Chr11:116661195 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.707C>A (p.Thr236Lys) single nucleotide variant Cardiovascular phenotype [RCV002365126] Chr11:116790522 [GRCh38]
Chr11:116661238 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.879C>T (p.Tyr293=) single nucleotide variant Cardiovascular phenotype [RCV002449779] Chr11:116790350 [GRCh38]
Chr11:116661066 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.317G>A (p.Arg106His) single nucleotide variant Cardiovascular phenotype [RCV002322726] Chr11:116790912 [GRCh38]
Chr11:116661628 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.342G>A (p.Ala114=) single nucleotide variant Cardiovascular phenotype [RCV002457020]|not provided [RCV003102375] Chr11:116790887 [GRCh38]
Chr11:116661603 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.820C>A (p.Pro274Thr) single nucleotide variant Cardiovascular phenotype [RCV002427960] Chr11:116790409 [GRCh38]
Chr11:116661125 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.611G>A (p.Arg204His) single nucleotide variant Cardiovascular phenotype [RCV002360273] Chr11:116790618 [GRCh38]
Chr11:116661334 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.1035T>C (p.Asp345=) single nucleotide variant Cardiovascular phenotype [RCV002392087] Chr11:116790194 [GRCh38]
Chr11:116660910 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.949C>G (p.Pro317Ala) single nucleotide variant Cardiovascular phenotype [RCV002374098]|not provided [RCV003103588]|not specified [RCV003331358] Chr11:116790280 [GRCh38]
Chr11:116660996 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.466G>T (p.Glu156Ter) single nucleotide variant Cardiovascular phenotype [RCV002335151] Chr11:116790763 [GRCh38]
Chr11:116661479 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001371904.1(APOA5):c.85G>A (p.Asp29Asn) single nucleotide variant Cardiovascular phenotype [RCV002447987]|not provided [RCV003103518] Chr11:116791662 [GRCh38]
Chr11:116662378 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.901C>G (p.Arg301Gly) single nucleotide variant Cardiovascular phenotype [RCV002376418] Chr11:116790328 [GRCh38]
Chr11:116661044 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.161+3G>A single nucleotide variant APOA5-related disorder [RCV003896172]|Cardiovascular phenotype [RCV002394823]|not provided [RCV003774411] Chr11:116791583 [GRCh38]
Chr11:116662299 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001371904.1(APOA5):c.196A>G (p.Asn66Asp) single nucleotide variant Cardiovascular phenotype [RCV002423451] Chr11:116791033 [GRCh38]
Chr11:116661749 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.313G>T (p.Ala105Ser) single nucleotide variant not provided [RCV002300723] Chr11:116790916 [GRCh38]
Chr11:116661632 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.494dup (p.Val166fs) duplication Cardiovascular phenotype [RCV002342720]|not provided [RCV003120927] Chr11:116790734..116790735 [GRCh38]
Chr11:116661450..116661451 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_001371904.1(APOA5):c.660C>T (p.Ser220=) single nucleotide variant Cardiovascular phenotype [RCV002375858] Chr11:116790569 [GRCh38]
Chr11:116661285 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.569T>C (p.Leu190Pro) single nucleotide variant Cardiovascular phenotype [RCV002347537] Chr11:116790660 [GRCh38]
Chr11:116661376 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.459G>C (p.Val153=) single nucleotide variant Cardiovascular phenotype [RCV002342342] Chr11:116790770 [GRCh38]
Chr11:116661486 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.606C>T (p.Ile202=) single nucleotide variant Cardiovascular phenotype [RCV002358364]|not provided [RCV003098121] Chr11:116790623 [GRCh38]
Chr11:116661339 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.758T>C (p.Leu253Pro) single nucleotide variant Cardiovascular phenotype [RCV002394156] Chr11:116790471 [GRCh38]
Chr11:116661187 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.696C>T (p.Ser232=) single nucleotide variant Cardiovascular phenotype [RCV002362515] Chr11:116790533 [GRCh38]
Chr11:116661249 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.294G>C (p.Glu98Asp) single nucleotide variant Cardiovascular phenotype [RCV002441857] Chr11:116790935 [GRCh38]
Chr11:116661651 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.281G>A (p.Arg94Gln) single nucleotide variant Cardiovascular phenotype [RCV002441804] Chr11:116790948 [GRCh38]
Chr11:116661664 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.56C>T (p.Ser19Leu) single nucleotide variant Cardiovascular phenotype [RCV002347556]|not provided [RCV003103218] Chr11:116791691 [GRCh38]
Chr11:116662407 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.267G>A (p.Pro89=) single nucleotide variant Cardiovascular phenotype [RCV002428895] Chr11:116790962 [GRCh38]
Chr11:116661678 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.141G>T (p.Gln47His) single nucleotide variant Cardiovascular phenotype [RCV002391795]|not provided [RCV003095130] Chr11:116791606 [GRCh38]
Chr11:116662322 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.597G>A (p.Val199=) single nucleotide variant Cardiovascular phenotype [RCV002356133]|not provided [RCV003098085] Chr11:116790632 [GRCh38]
Chr11:116661348 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.1024G>A (p.Ala342Thr) single nucleotide variant Cardiovascular phenotype [RCV002380580] Chr11:116790205 [GRCh38]
Chr11:116660921 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.168G>C (p.Leu56=) single nucleotide variant Cardiovascular phenotype [RCV002414625]|not provided [RCV003738250] Chr11:116791061 [GRCh38]
Chr11:116661777 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.465G>A (p.Gly155=) single nucleotide variant Cardiovascular phenotype [RCV002330484] Chr11:116790764 [GRCh38]
Chr11:116661480 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.154G>T (p.Glu52Ter) single nucleotide variant Cardiovascular phenotype [RCV002403354] Chr11:116791593 [GRCh38]
Chr11:116662309 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001371904.1(APOA5):c.775A>T (p.Arg259Ter) single nucleotide variant Cardiovascular phenotype [RCV002409701] Chr11:116790454 [GRCh38]
Chr11:116661170 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001371904.1(APOA5):c.765A>G (p.Glu255=) single nucleotide variant Cardiovascular phenotype [RCV002396418] Chr11:116790464 [GRCh38]
Chr11:116661180 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.162-5T>A single nucleotide variant not provided [RCV002858172] Chr11:116791072 [GRCh38]
Chr11:116661788 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.280C>T (p.Arg94Trp) single nucleotide variant not provided [RCV002508642] Chr11:116790949 [GRCh38]
Chr11:116661665 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.386T>C (p.Leu129Pro) single nucleotide variant Cardiovascular phenotype [RCV004064874]|not provided [RCV002818996] Chr11:116790843 [GRCh38]
Chr11:116661559 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.648C>A (p.His216Gln) single nucleotide variant not provided [RCV002640006] Chr11:116790581 [GRCh38]
Chr11:116661297 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.471C>T (p.Asp157=) single nucleotide variant not provided [RCV002740005] Chr11:116790758 [GRCh38]
Chr11:116661474 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.162-8T>G single nucleotide variant not provided [RCV002979111]|not specified [RCV003331409] Chr11:116791075 [GRCh38]
Chr11:116661791 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001371904.1(APOA5):c.119G>T (p.Arg40Met) single nucleotide variant Cardiovascular phenotype [RCV004066254]|not provided [RCV002909711]|not specified [RCV003324054] Chr11:116791628 [GRCh38]
Chr11:116662344 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001371904.1(APOA5):c.295G>A (p.Glu99Lys) single nucleotide variant Cardiovascular phenotype [RCV004065116]|not provided [RCV002979212] Chr11:116790934 [GRCh38]
Chr11:116661650 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.815C>A (p.Pro272Gln) single nucleotide variant not provided [RCV003037431] Chr11:116790414 [GRCh38]
Chr11:116661130 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.703C>T (p.Leu235Phe) single nucleotide variant Cardiovascular phenotype [RCV004109970] Chr11:116790526 [GRCh38]
Chr11:116661242 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.565G>A (p.Glu189Lys) single nucleotide variant Cardiovascular phenotype [RCV004178785] Chr11:116790664 [GRCh38]
Chr11:116661380 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.644C>T (p.Pro215Leu) single nucleotide variant Familial type 5 hyperlipoproteinemia [RCV003228112]|not provided [RCV003058353] Chr11:116790585 [GRCh38]
Chr11:116661301 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001371904.1(APOA5):c.327dup (p.Tyr110fs) duplication not provided [RCV003058354] Chr11:116790901..116790902 [GRCh38]
Chr11:116661617..116661618 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.152G>C (p.Arg51Pro) single nucleotide variant Cardiovascular phenotype [RCV004128185] Chr11:116791595 [GRCh38]
Chr11:116662311 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.973G>A (p.Ala325Thr) single nucleotide variant not provided [RCV002626069] Chr11:116790256 [GRCh38]
Chr11:116660972 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.49+5G>A single nucleotide variant not provided [RCV002711495] Chr11:116791807 [GRCh38]
Chr11:116662523 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.556C>A (p.Arg186Ser) single nucleotide variant not provided [RCV003042933] Chr11:116790673 [GRCh38]
Chr11:116661389 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.979G>C (p.Glu327Gln) single nucleotide variant not provided [RCV002650315] Chr11:116790250 [GRCh38]
Chr11:116660966 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.733C>T (p.Arg245Cys) single nucleotide variant not provided [RCV003062457] Chr11:116790496 [GRCh38]
Chr11:116661212 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.518T>C (p.Leu173Pro) single nucleotide variant not provided [RCV003062458] Chr11:116790711 [GRCh38]
Chr11:116661427 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.77G>C (p.Gly26Ala) single nucleotide variant Cardiovascular phenotype [RCV004142515] Chr11:116791670 [GRCh38]
Chr11:116662386 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.730G>T (p.Ala244Ser) single nucleotide variant Cardiovascular phenotype [RCV004069032]|not provided [RCV002632296] Chr11:116790499 [GRCh38]
Chr11:116661215 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.161+14G>C single nucleotide variant not provided [RCV002604556] Chr11:116791572 [GRCh38]
Chr11:116662288 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.548A>T (p.His183Leu) single nucleotide variant Cardiovascular phenotype [RCV003177591] Chr11:116790681 [GRCh38]
Chr11:116661397 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.210C>T (p.Phe70=) single nucleotide variant Cardiovascular phenotype [RCV003177593]|not provided [RCV003779567] Chr11:116791019 [GRCh38]
Chr11:116661735 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.122T>C (p.Val41Ala) single nucleotide variant Cardiovascular phenotype [RCV003177594] Chr11:116791625 [GRCh38]
Chr11:116662341 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.902G>A (p.Arg301His) single nucleotide variant Cardiovascular phenotype [RCV003177595] Chr11:116790327 [GRCh38]
Chr11:116661043 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.919A>G (p.Thr307Ala) single nucleotide variant Cardiovascular phenotype [RCV003177596] Chr11:116790310 [GRCh38]
Chr11:116661026 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.333G>T (p.Met111Ile) single nucleotide variant Cardiovascular phenotype [RCV003177592] Chr11:116790896 [GRCh38]
Chr11:116661612 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.795del (p.Thr266fs) deletion not provided [RCV003227297] Chr11:116790434 [GRCh38]
Chr11:116661150 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.117_120del (p.Arg40fs) deletion Familial type 5 hyperlipoproteinemia [RCV003134709] Chr11:116791627..116791630 [GRCh38]
Chr11:116662343..116662346 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001371904.1(APOA5):c.332T>A (p.Met111Lys) single nucleotide variant Cardiovascular phenotype [RCV003177589] Chr11:116790897 [GRCh38]
Chr11:116661613 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.495C>A (p.Gly165=) single nucleotide variant Cardiovascular phenotype [RCV003177590] Chr11:116790734 [GRCh38]
Chr11:116661450 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.625C>T (p.Leu209=) single nucleotide variant Cardiovascular phenotype [RCV004334077]|not specified [RCV003324253] Chr11:116790604 [GRCh38]
Chr11:116661320 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.1025C>T (p.Ala342Val) single nucleotide variant not provided [RCV003318855] Chr11:116790204 [GRCh38]
Chr11:116660920 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.454C>T (p.Arg152Cys) single nucleotide variant Cardiovascular phenotype [RCV003339158] Chr11:116790775 [GRCh38]
Chr11:116661491 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.1002C>A (p.Gly334=) single nucleotide variant Cardiovascular phenotype [RCV003339159] Chr11:116790227 [GRCh38]
Chr11:116660943 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.42dup (p.Leu15fs) duplication Cardiovascular phenotype [RCV003339156] Chr11:116791818..116791819 [GRCh38]
Chr11:116662534..116662535 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001371904.1(APOA5):c.889G>A (p.Ala297Thr) single nucleotide variant Cardiovascular phenotype [RCV003342000] Chr11:116790340 [GRCh38]
Chr11:116661056 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.*17G>A single nucleotide variant not specified [RCV003331951] Chr11:116790111 [GRCh38]
Chr11:116660827 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.-11C>G single nucleotide variant not specified [RCV003332044] Chr11:116791871 [GRCh38]
Chr11:116662587 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.274A>G (p.Met92Val) single nucleotide variant not specified [RCV003332047] Chr11:116790955 [GRCh38]
Chr11:116661671 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.802G>A (p.Glu268Lys) single nucleotide variant Cardiovascular phenotype [RCV003387083] Chr11:116790427 [GRCh38]
Chr11:116661143 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.694T>C (p.Ser232Pro) single nucleotide variant Cardiovascular phenotype [RCV004359420] Chr11:116790535 [GRCh38]
Chr11:116661251 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.500A>T (p.Asp167Val) single nucleotide variant Cardiovascular phenotype [RCV004351610] Chr11:116790729 [GRCh38]
Chr11:116661445 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:115182164-116759502)x3 copy number gain not provided [RCV003484852] Chr11:115182164..116759502 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.8G>A (p.Ser3Asn) single nucleotide variant not provided [RCV003482034] Chr11:116791853 [GRCh38]
Chr11:116662569 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:116575812-116684028)x1 copy number loss not provided [RCV003483141] Chr11:116575812..116684028 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_001371904.1(APOA5):c.16_39del (p.Ala6_Ala13del) deletion Familial type 5 hyperlipoproteinemia [RCV003388271] Chr11:116791822..116791845 [GRCh38]
Chr11:116662538..116662561 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001371904.1(APOA5):c.428G>A (p.Arg143His) single nucleotide variant APOA5-related disorder [RCV003422462]|Cardiovascular phenotype [RCV004364455] Chr11:116790801 [GRCh38]
Chr11:116661517 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.1066C>T (p.His356Tyr) single nucleotide variant Cardiovascular phenotype [RCV004371833]|not provided [RCV003696141] Chr11:116790163 [GRCh38]
Chr11:116660879 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.256C>G (p.Pro86Ala) single nucleotide variant not provided [RCV003577401] Chr11:116790973 [GRCh38]
Chr11:116661689 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.777A>T (p.Arg259Ser) single nucleotide variant not provided [RCV003574382] Chr11:116790452 [GRCh38]
Chr11:116661168 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.593T>C (p.Leu198Pro) single nucleotide variant not provided [RCV003550076] Chr11:116790636 [GRCh38]
Chr11:116661352 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.509_514del (p.Trp170_Ala171del) deletion not provided [RCV003549306] Chr11:116790715..116790720 [GRCh38]
Chr11:116661431..116661436 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.894C>T (p.Ala298=) single nucleotide variant not provided [RCV003671960] Chr11:116790335 [GRCh38]
Chr11:116661051 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.610C>T (p.Arg204Cys) single nucleotide variant not provided [RCV003839383] Chr11:116790619 [GRCh38]
Chr11:116661335 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.1095C>T (p.Asp365=) single nucleotide variant not provided [RCV003698486] Chr11:116790134 [GRCh38]
Chr11:116660850 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.161+15dup duplication not provided [RCV003668265] Chr11:116791570..116791571 [GRCh38]
Chr11:116662286..116662287 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.563A>G (p.Lys188Arg) single nucleotide variant not provided [RCV003857916] Chr11:116790666 [GRCh38]
Chr11:116661382 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.225G>A (p.Arg75=) single nucleotide variant not provided [RCV003708886] Chr11:116791004 [GRCh38]
Chr11:116661720 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.49+5G>T single nucleotide variant not provided [RCV003552428] Chr11:116791807 [GRCh38]
Chr11:116662523 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.576C>T (p.His192=) single nucleotide variant not provided [RCV003567063] Chr11:116790653 [GRCh38]
Chr11:116661369 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.954A>C (p.Pro318=) single nucleotide variant not provided [RCV003820133] Chr11:116790275 [GRCh38]
Chr11:116660991 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.622G>A (p.Glu208Lys) single nucleotide variant not provided [RCV003872548] Chr11:116790607 [GRCh38]
Chr11:116661323 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.1028G>C (p.Arg343Pro) single nucleotide variant not provided [RCV003721174] Chr11:116790201 [GRCh38]
Chr11:116660917 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.360G>C (p.Trp120Cys) single nucleotide variant not provided [RCV003854289] Chr11:116790869 [GRCh38]
Chr11:116661585 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.698G>A (p.Arg233Gln) single nucleotide variant not provided [RCV003820446] Chr11:116790531 [GRCh38]
Chr11:116661247 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.848A>G (p.Gln283Arg) single nucleotide variant not provided [RCV003819479] Chr11:116790381 [GRCh38]
Chr11:116661097 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.43C>T (p.Leu15Phe) single nucleotide variant not provided [RCV003680521] Chr11:116791818 [GRCh38]
Chr11:116662534 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.281G>C (p.Arg94Pro) single nucleotide variant Cardiovascular phenotype [RCV004417728] Chr11:116790948 [GRCh38]
Chr11:116661664 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.607G>A (p.Gly203Arg) single nucleotide variant Cardiovascular phenotype [RCV004417729] Chr11:116790622 [GRCh38]
Chr11:116661338 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.819C>T (p.Asp273=) single nucleotide variant APOA5-related disorder [RCV003924087] Chr11:116790410 [GRCh38]
Chr11:116661126 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.996C>G (p.Asp332Glu) single nucleotide variant Cardiovascular phenotype [RCV004417730] Chr11:116790233 [GRCh38]
Chr11:116660949 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.968C>T (p.Ala323Val) single nucleotide variant Cardiovascular phenotype [RCV004522520] Chr11:116790261 [GRCh38]
Chr11:116660977 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.240C>T (p.Ser80=) single nucleotide variant Cardiovascular phenotype [RCV004522506] Chr11:116790989 [GRCh38]
Chr11:116661705 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.578C>A (p.Pro193Gln) single nucleotide variant Cardiovascular phenotype [RCV004522510] Chr11:116790651 [GRCh38]
Chr11:116661367 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.628C>T (p.His210Tyr) single nucleotide variant Cardiovascular phenotype [RCV004522514] Chr11:116790601 [GRCh38]
Chr11:116661317 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.748C>A (p.Leu250Met) single nucleotide variant Cardiovascular phenotype [RCV004522516] Chr11:116790481 [GRCh38]
Chr11:116661197 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.277C>A (p.Arg93=) single nucleotide variant Cardiovascular phenotype [RCV004522507] Chr11:116790952 [GRCh38]
Chr11:116661668 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.427C>A (p.Arg143Ser) single nucleotide variant Cardiovascular phenotype [RCV004522508] Chr11:116790802 [GRCh38]
Chr11:116661518 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.53T>C (p.Phe18Ser) single nucleotide variant Cardiovascular phenotype [RCV004522509] Chr11:116791694 [GRCh38]
Chr11:116662410 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.607G>C (p.Gly203Arg) single nucleotide variant Cardiovascular phenotype [RCV004522511] Chr11:116790622 [GRCh38]
Chr11:116661338 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.613C>T (p.His205Tyr) single nucleotide variant Cardiovascular phenotype [RCV004522512] Chr11:116790616 [GRCh38]
Chr11:116661332 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.616G>A (p.Val206Met) single nucleotide variant Cardiovascular phenotype [RCV004522513] Chr11:116790613 [GRCh38]
Chr11:116661329 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.714G>A (p.Lys238=) single nucleotide variant Cardiovascular phenotype [RCV004522515] Chr11:116790515 [GRCh38]
Chr11:116661231 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001371904.1(APOA5):c.760C>T (p.Arg254Cys) single nucleotide variant Cardiovascular phenotype [RCV004522517] Chr11:116790469 [GRCh38]
Chr11:116661185 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.793G>A (p.Gly265Arg) single nucleotide variant Cardiovascular phenotype [RCV004522518] Chr11:116790436 [GRCh38]
Chr11:116661152 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.799G>A (p.Glu267Lys) single nucleotide variant Cardiovascular phenotype [RCV004522519] Chr11:116790430 [GRCh38]
Chr11:116661146 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.681C>A (p.Cys227Ter) single nucleotide variant Hypertriglyceridemia 1 [RCV003991073] Chr11:116790548 [GRCh38]
Chr11:116661264 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001371904.1(APOA5):c.334_399dup (p.Thr133_Met134insAlaGluAlaHisGluLeuValGlyTrpAsnLeuGluGlyLeuArgGlnGlnLeuLysProTyrThr) duplication Familial type 5 hyperlipoproteinemia [RCV004566409] Chr11:116790829..116790830 [GRCh38]
Chr11:116661545..116661546 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116662282)_(116708103_?)dup duplication not provided [RCV004580294] Chr11:116662282..116708103 [GRCh37] uncertain significance
NC_000011.9:g.(?_116660844)_(116707147_?)dup duplication not provided [RCV004580295] Chr11:116660844..116707147 [GRCh37] uncertain significance
NC_000011.9:g.(?_116660844)_(116662576_?)del deletion not provided [RCV004580374] Chr11:116660844..116662576 [GRCh37] uncertain significance
NM_001371904.1(APOA5):c.*12C>T single nucleotide variant not specified [RCV003331952] Chr11:116790116 [GRCh38]
Chr11:116660832 [GRCh37]
Chr11:11q23.3		 benign
NM_001371904.1(APOA5):c.578_601del (p.Pro193_Gly201delinsArg) deletion Cardiovascular phenotype [RCV003339157] Chr11:116790628..116790651 [GRCh38]
Chr11:116661344..116661367 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001371904.1(APOA5):c.105C>T (p.Ser35=) single nucleotide variant Cardiovascular phenotype [RCV003342001] Chr11:116791642 [GRCh38]
Chr11:116662358 [GRCh37]
Chr11:11q23.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1161
Count of miRNA genes:542
Interacting mature miRNAs:601
Transcripts:ENST00000227665, ENST00000433069, ENST00000542499
Prediction methods: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
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human

Markers in Region
ECD02845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,662,174 - 116,662,989UniSTSGRCh37
Build 3611116,167,384 - 116,168,199RGDNCBI36
Celera11113,817,564 - 113,818,379RGD
Cytogenetic Map11q23UniSTS
HuRef11112,594,167 - 112,594,982UniSTS
ECD03275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,663,046 - 116,663,846UniSTSGRCh37
Build 3611116,168,256 - 116,169,056RGDNCBI36
Celera11113,818,436 - 113,819,236RGD
Cytogenetic Map11q23UniSTS
HuRef11112,595,039 - 112,595,839UniSTS
ECD03778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,660,426 - 116,661,210UniSTSGRCh37
Build 3611116,165,636 - 116,166,420RGDNCBI36
Celera11113,815,816 - 113,816,600RGD
Cytogenetic Map11q23UniSTS
HuRef11112,592,419 - 112,593,203UniSTS
ECD03802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,659,611 - 116,660,394UniSTSGRCh37
Build 3611116,164,821 - 116,165,604RGDNCBI36
Celera11113,815,001 - 113,815,784RGD
Cytogenetic Map11q23UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11112,591,604 - 112,592,387UniSTS
ECD06759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,661,415 - 116,662,115UniSTSGRCh37
Build 3611116,166,625 - 116,167,325RGDNCBI36
Celera11113,816,805 - 113,817,505RGD
Cytogenetic Map11q23UniSTS
HuRef11112,593,408 - 112,594,108UniSTS
REN73090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,664,775 - 116,665,044UniSTSGRCh37
Build 3611116,169,985 - 116,170,254RGDNCBI36
Celera11113,820,165 - 113,820,434RGD
Cytogenetic Map11q23UniSTS
HuRef11112,596,768 - 112,597,037UniSTS
REN73091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,664,566 - 116,664,790UniSTSGRCh37
Build 3611116,169,776 - 116,170,000RGDNCBI36
Celera11113,819,956 - 113,820,180RGD
Cytogenetic Map11q23UniSTS
HuRef11112,596,559 - 112,596,783UniSTS
REN73092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,664,281 - 116,664,541UniSTSGRCh37
Build 3611116,169,491 - 116,169,751RGDNCBI36
Celera11113,819,671 - 113,819,931RGD
Cytogenetic Map11q23UniSTS
HuRef11112,596,274 - 112,596,534UniSTS
REN73093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,664,055 - 116,664,293UniSTSGRCh37
Build 3611116,169,265 - 116,169,503RGDNCBI36
Celera11113,819,445 - 113,819,683RGD
Cytogenetic Map11q23UniSTS
HuRef11112,596,048 - 112,596,286UniSTS
REN73094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,663,780 - 116,664,024UniSTSGRCh37
Build 3611116,168,990 - 116,169,234RGDNCBI36
Celera11113,819,170 - 113,819,414RGD
Cytogenetic Map11q23UniSTS
HuRef11112,595,773 - 112,596,017UniSTS
REN73095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,663,562 - 116,663,796UniSTSGRCh37
Build 3611116,168,772 - 116,169,006RGDNCBI36
Celera11113,818,952 - 113,819,186RGD
Cytogenetic Map11q23UniSTS
HuRef11112,595,555 - 112,595,789UniSTS
REN73096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,663,304 - 116,663,547UniSTSGRCh37
Build 3611116,168,514 - 116,168,757RGDNCBI36
Celera11113,818,694 - 113,818,937RGD
Cytogenetic Map11q23UniSTS
HuRef11112,595,297 - 112,595,540UniSTS
REN73097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,663,049 - 116,663,315UniSTSGRCh37
Build 3611116,168,259 - 116,168,525RGDNCBI36
Celera11113,818,439 - 113,818,705RGD
Cytogenetic Map11q23UniSTS
HuRef11112,595,042 - 112,595,308UniSTS
REN73098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,662,828 - 116,663,065UniSTSGRCh37
Build 3611116,168,038 - 116,168,275RGDNCBI36
Celera11113,818,218 - 113,818,455RGD
Cytogenetic Map11q23UniSTS
HuRef11112,594,821 - 112,595,058UniSTS
REN73099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,662,580 - 116,662,824UniSTSGRCh37
Build 3611116,167,790 - 116,168,034RGDNCBI36
Celera11113,817,970 - 113,818,214RGD
Cytogenetic Map11q23UniSTS
HuRef11112,594,573 - 112,594,817UniSTS
REN73100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,662,368 - 116,662,597UniSTSGRCh37
Build 3611116,167,578 - 116,167,807RGDNCBI36
Celera11113,817,758 - 113,817,987RGD
Cytogenetic Map11q23UniSTS
HuRef11112,594,361 - 112,594,590UniSTS
REN73101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,662,129 - 116,662,355UniSTSGRCh37
Build 3611116,167,339 - 116,167,565RGDNCBI36
Celera11113,817,519 - 113,817,745RGD
Cytogenetic Map11q23UniSTS
HuRef11112,594,122 - 112,594,348UniSTS
REN73102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,661,879 - 116,662,117UniSTSGRCh37
Build 3611116,167,089 - 116,167,327RGDNCBI36
Celera11113,817,269 - 113,817,507RGD
Cytogenetic Map11q23UniSTS
HuRef11112,593,872 - 112,594,110UniSTS
REN73103  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,661,636 - 116,661,890UniSTSGRCh37
Build 3611116,166,846 - 116,167,100RGDNCBI36
Celera11113,817,026 - 113,817,280RGD
Cytogenetic Map11q23UniSTS
HuRef11112,593,629 - 112,593,883UniSTS
REN73104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,661,415 - 116,661,652UniSTSGRCh37
Build 3611116,166,625 - 116,166,862RGDNCBI36
Celera11113,816,805 - 113,817,042RGD
Cytogenetic Map11q23UniSTS
HuRef11112,593,408 - 112,593,645UniSTS
REN73105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,661,185 - 116,661,434UniSTSGRCh37
Build 3611116,166,395 - 116,166,644RGDNCBI36
Celera11113,816,575 - 113,816,824RGD
Cytogenetic Map11q23UniSTS
HuRef11112,593,178 - 112,593,427UniSTS
REN73106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,660,935 - 116,661,159UniSTSGRCh37
Build 3611116,166,145 - 116,166,369RGDNCBI36
Celera11113,816,325 - 113,816,549RGD
Cytogenetic Map11q23UniSTS
HuRef11112,592,928 - 112,593,152UniSTS
REN73107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,660,679 - 116,660,911UniSTSGRCh37
Build 3611116,165,889 - 116,166,121RGDNCBI36
Celera11113,816,069 - 113,816,301RGD
Cytogenetic Map11q23UniSTS
HuRef11112,592,672 - 112,592,904UniSTS
REN73108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,660,457 - 116,660,691UniSTSGRCh37
Build 3611116,165,667 - 116,165,901RGDNCBI36
Celera11113,815,847 - 113,816,081RGD
Cytogenetic Map11q23UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11112,592,450 - 112,592,684UniSTS
REN73109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,660,212 - 116,660,441UniSTSGRCh37
Build 3611116,165,422 - 116,165,651RGDNCBI36
Celera11113,815,602 - 113,815,831RGD
Cytogenetic Map11q23UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11112,592,205 - 112,592,434UniSTS
REN73110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,659,964 - 116,660,197UniSTSGRCh37
Build 3611116,165,174 - 116,165,407RGDNCBI36
Celera11113,815,354 - 113,815,587RGD
Cytogenetic Map11q23UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11112,591,957 - 112,592,190UniSTS
REN73111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,659,716 - 116,659,965UniSTSGRCh37
Build 3611116,164,926 - 116,165,175RGDNCBI36
Celera11113,815,106 - 113,815,355RGD
Cytogenetic Map11q23UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef11112,591,709 - 112,591,958UniSTS
stSG601776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,660,205 - 116,661,649UniSTSGRCh37
Build 3611116,165,415 - 116,166,859RGDNCBI36
Celera11113,815,595 - 113,817,039RGD
Cytogenetic Map11q23UniSTS
HuRef11112,592,198 - 112,593,642UniSTS
stSG601777  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,661,762 - 116,662,989UniSTSGRCh37
Build 3611116,166,972 - 116,168,199RGDNCBI36
Celera11113,817,152 - 113,818,379RGD
HuRef11112,593,755 - 112,594,982UniSTS
stSG601778  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711116,662,983 - 116,664,038UniSTSGRCh37
Build 3611116,168,193 - 116,169,248RGDNCBI36
Celera11113,818,373 - 113,819,428RGD
HuRef11112,594,976 - 112,596,031UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High 7 7 7
Medium 2 404 404 3 404 1 2
Low 80 44 39 26 74 25 36 17 7 3 349 41 1 20 17
Below cutoff 1476 1615 795 81 608 8 2095 1009 1760 62 542 951 73 595 1357

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF202889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF202890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX061634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX704795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY422949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY555191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA641693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB184692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF444949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ401315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000227665   ⟹   ENSP00000227665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11116,789,367 - 116,791,879 (-)Ensembl
Ensembl Acc Id: ENST00000433069   ⟹   ENSP00000399701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11116,789,913 - 116,792,391 (-)Ensembl
Ensembl Acc Id: ENST00000542499   ⟹   ENSP00000445002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11116,789,373 - 116,792,420 (-)Ensembl
Ensembl Acc Id: ENST00000673688   ⟹   ENSP00000501141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11116,790,077 - 116,791,871 (-)Ensembl
RefSeq Acc Id: NM_001166598   ⟹   NP_001160070
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,789,367 - 116,792,420 (-)NCBI
GRCh3711116,660,086 - 116,663,136 (-)ENTREZGENE
HuRef11112,592,079 - 112,595,129 (-)ENTREZGENE
CHM1_111116,544,726 - 116,547,776 (-)NCBI
T2T-CHM13v2.011116,803,991 - 116,807,044 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371904   ⟹   NP_001358833
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,789,367 - 116,791,879 (-)NCBI
T2T-CHM13v2.011116,803,991 - 116,806,503 (-)NCBI
Sequence:
RefSeq Acc Id: NM_052968   ⟹   NP_443200
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,789,367 - 116,792,420 (-)NCBI
GRCh3711116,660,086 - 116,663,136 (-)ENTREZGENE
Build 3611116,165,296 - 116,167,794 (-)NCBI Archive
HuRef11112,592,079 - 112,595,129 (-)ENTREZGENE
CHM1_111116,544,726 - 116,547,776 (-)NCBI
T2T-CHM13v2.011116,803,991 - 116,807,044 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001160070   ⟸   NM_001166598
- Peptide Label: precursor
- UniProtKB: Q6UWK9 (UniProtKB/Swiss-Prot),   Q3MIK6 (UniProtKB/Swiss-Prot),   B0YIV9 (UniProtKB/Swiss-Prot),   Q9UBJ3 (UniProtKB/Swiss-Prot),   Q6Q788 (UniProtKB/Swiss-Prot),   A0A0B4RUS7 (UniProtKB/TrEMBL),   A8K9M4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_443200   ⟸   NM_052968
- Peptide Label: precursor
- UniProtKB: Q6UWK9 (UniProtKB/Swiss-Prot),   Q3MIK6 (UniProtKB/Swiss-Prot),   B0YIV9 (UniProtKB/Swiss-Prot),   Q9UBJ3 (UniProtKB/Swiss-Prot),   Q6Q788 (UniProtKB/Swiss-Prot),   A0A0B4RUS7 (UniProtKB/TrEMBL),   A8K9M4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358833   ⟸   NM_001371904
- Peptide Label: precursor
- UniProtKB: Q6UWK9 (UniProtKB/Swiss-Prot),   Q6Q788 (UniProtKB/Swiss-Prot),   Q3MIK6 (UniProtKB/Swiss-Prot),   B0YIV9 (UniProtKB/Swiss-Prot),   Q9UBJ3 (UniProtKB/Swiss-Prot),   A0A0B4RUS7 (UniProtKB/TrEMBL),   A8K9M4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000227665   ⟸   ENST00000227665
Ensembl Acc Id: ENSP00000501141   ⟸   ENST00000673688
Ensembl Acc Id: ENSP00000445002   ⟸   ENST00000542499
Ensembl Acc Id: ENSP00000399701   ⟸   ENST00000433069

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6Q788-F1-model_v2 AlphaFold Q6Q788 1-366 view protein structure

Promoters
RGD ID:7222211
Promoter ID:EPDNEW_H16851
Type:initiation region
Name:APOA5_1
Description:apolipoprotein A5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16852  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,791,879 - 116,791,939EPDNEW
RGD ID:7222213
Promoter ID:EPDNEW_H16852
Type:initiation region
Name:APOA5_2
Description:apolipoprotein A5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16851  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811116,792,418 - 116,792,478EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17288 AgrOrtholog
COSMIC APOA5 COSMIC
Ensembl Genes ENSG00000110243 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000227665 ENTREZGENE
  ENST00000227665.9 UniProtKB/Swiss-Prot
  ENST00000433069 ENTREZGENE
  ENST00000433069.2 UniProtKB/Swiss-Prot
  ENST00000542499 ENTREZGENE
  ENST00000542499.5 UniProtKB/Swiss-Prot
  ENST00000673688.1 UniProtKB/TrEMBL
Gene3D-CATH Apolipoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110243 GTEx
HGNC ID HGNC:17288 ENTREZGENE
Human Proteome Map APOA5 Human Proteome Map
InterPro ApoA_E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:116519 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 116519 ENTREZGENE
OMIM 606368 OMIM
PANTHER APOLIPOPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APOLIPOPROTEIN A-V UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Apolipoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB APOA5 RGD, PharmGKB
Superfamily-SCOP Apolipoprotein A-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4RUS7 ENTREZGENE, UniProtKB/TrEMBL
  A0A669KB69_HUMAN UniProtKB/TrEMBL
  A8K9M4 ENTREZGENE, UniProtKB/TrEMBL
  APOA5_HUMAN UniProtKB/Swiss-Prot
  B0YIV9 ENTREZGENE
  B0YIW1_HUMAN UniProtKB/TrEMBL
  Q3MIK6 ENTREZGENE
  Q6Q788 ENTREZGENE
  Q6UWK9 ENTREZGENE
  Q9UBJ3 ENTREZGENE
UniProt Secondary B0YIV9 UniProtKB/Swiss-Prot
  Q3MIK6 UniProtKB/Swiss-Prot
  Q6UWK9 UniProtKB/Swiss-Prot
  Q9UBJ3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 APOA5  apolipoprotein A5    apolipoprotein A-V  Symbol and/or name change 5135510 APPROVED