LIPE (lipase E, hormone sensitive type) - Rat Genome Database

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Gene: LIPE (lipase E, hormone sensitive type) Homo sapiens
Analyze
Symbol: LIPE
Name: lipase E, hormone sensitive type
RGD ID: 737132
HGNC Page HGNC:6621
Description: Enables lipase activity and retinyl-palmitate esterase activity. Predicted to be involved in diacylglycerol catabolic process; ether lipid metabolic process; and triglyceride catabolic process. Predicted to act upstream of or within cellular response to cold and long-chain fatty acid catabolic process. Located in cytosol. Implicated in familial partial lipodystrophy type 6 and hypertension. Biomarker of arteriosclerosis and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AOMS4; FPLD6; hormone-sensitive lipase; hormone-sensitive lipase testicular isoform; HSL; LHS; lipase, hormone sensitive; lipase, hormone-sensitive; monoacylglycerol lipase LIPE; REH; retinyl ester hydrolase
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
GRCh381942,401,514 - 42,427,388 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1942,401,497 - 42,427,388 (-)Ensemblhg38GRCh38
GRCh371942,905,666 - 42,931,540 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361947,597,506 - 47,623,418 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341947,597,505 - 47,623,418NCBI
Celera1939,706,455 - 39,732,367 (-)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1939,335,797 - 39,361,703 (-)NCBIHuRef
CHM1_11942,907,316 - 42,933,231 (-)NCBICHM1_1
T2T-CHM13v2.01945,220,900 - 45,246,776 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(25R)-cholest-5-ene-3beta,26-diol  (ISO)
(R)-adrenaline  (EXP,ISO)
(R)-lipoic acid  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose 6-phosphate  (ISO)
26-hydroxycholesterol  (ISO)
3',5'-cyclic AMP  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aldehydo-D-glucosamine 6-phosphate  (ISO)
all-trans-retinyl palmitate  (EXP)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
ATP  (EXP)
beta-D-glucosamine 6-sulfate  (ISO)
beta-lapachone  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
boric acid  (ISO)
bucladesine  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
CL316243  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
colforsin daropate hydrochloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
corosolic acid  (EXP)
Cuprizon  (ISO)
deoxycholic acid  (ISO)
desferrioxamine B  (EXP)
dexamethasone  (EXP,ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dichloroacetic acid  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (EXP,ISO)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
fructose  (ISO)
gadolinium trichloride  (ISO)
genistein  (ISO)
gentamycin  (ISO)
Gingerenone A  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
GSK-J4  (EXP)
hexadecanoic acid  (EXP)
imidacloprid  (ISO)
isoprenaline  (ISO)
L-methionine  (ISO)
Licarin A  (ISO)
lipoic acid  (ISO)
liraglutide  (ISO)
loliolide  (ISO)
methamphetamine  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nicotine  (ISO)
nicotinic acid  (EXP)
okadaic acid  (EXP)
ozone  (EXP,ISO)
papaverine  (ISO)
paracetamol  (ISO)
perfluorooctanoic acid  (ISO)
phosphatidylcholine  (ISO)
pirinixic acid  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
rimonabant  (ISO)
rotenone  (ISO)
scopoletin  (ISO)
sirolimus  (ISO)
sodium arsenite  (ISO)
streptozocin  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
telmisartan  (ISO)
tenofovir disoproxil fumarate  (EXP)
Tesaglitazar  (ISO)
theophylline  (EXP,ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
tuberostemonine  (EXP)
valproic acid  (EXP,ISO)
vanadyl sulfate  (ISO)
vinclozolin  (ISO)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
caveola  (IEA)
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA)
extracellular space  (ISO)
lipid droplet  (IEA,ISS)
membrane  (IEA,ISS)
plasma membrane  (IEA)

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 combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension. Bernard N, etal., J Hum Genet. 2007;52(3):244-54. Epub 2007 Feb 15.
2. The cytoskeleton in 'couch potato-ism': Insights from a murine model of impaired actin dynamics. Gertz K, etal., Exp Neurol. 2018 Aug;306:34-44. doi: 10.1016/j.expneurol.2018.04.004. Epub 2018 Apr 21.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Low level expression of hormone-sensitive lipase in arterial macrophage-derived foam cells: potential explanation for low rates of cholesteryl ester hydrolysis. Harte RA, etal., Atherosclerosis. 2000 Apr;149(2):343-50.
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. [Gene expression of hormone sensitive lipase and lipoprotein lipase in obesity-prone and obesity-resistant rats induced by high-fat diet] Ma W, etal., Wei Sheng Yan Jiu. 2007 May;36(3):320-2.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Masoprocol decreases serum triglyceride concentrations in rats with fructose-induced hypertriglyceridemia. Scribner KA, etal., Metabolism. 2000 Sep;49(9):1106-10.
13. Cardiac overexpression of hormone-sensitive lipase inhibits myocardial steatosis and fibrosis in streptozotocin diabetic mice. Ueno M, etal., Am J Physiol Endocrinol Metab. 2008 Jun;294(6):E1109-18. Epub 2008 Apr 15.
14. Hormone-sensitive lipase is reduced in the adipose tissue of patients with type 2 diabetes mellitus: influence of IL-6 infusion. Watt MJ, etal., Diabetologia. 2005 Jan;48(1):105-12. Epub 2004 Dec 18.
Additional References at PubMed
PMID:3420405   PMID:7698015   PMID:8506334   PMID:8812477   PMID:9417067   PMID:10318917   PMID:10445032   PMID:10694408   PMID:11026666   PMID:11063252   PMID:11574428   PMID:11581251  
PMID:11731226   PMID:11791141   PMID:11812735   PMID:11846402   PMID:11850754   PMID:11979403   PMID:12364542   PMID:12477932   PMID:12514936   PMID:12518034   PMID:12534454   PMID:12562895  
PMID:12701046   PMID:12727985   PMID:12730334   PMID:12765952   PMID:12832420   PMID:12864745   PMID:12925534   PMID:12970365   PMID:14641008   PMID:14745722   PMID:14984467   PMID:15231718  
PMID:15260473   PMID:15308678   PMID:15345679   PMID:15456755   PMID:15489334   PMID:15627655   PMID:15654127   PMID:15697220   PMID:15716583   PMID:15871848   PMID:15955102   PMID:16169070  
PMID:16243839   PMID:16328496   PMID:16534522   PMID:16690773   PMID:16752181   PMID:16822962   PMID:16906479   PMID:16940551   PMID:17026959   PMID:17074755   PMID:17189257   PMID:17327373  
PMID:17356053   PMID:17587400   PMID:17785468   PMID:18249203   PMID:18383440   PMID:18398140   PMID:18660489   PMID:18820256   PMID:18824087   PMID:18996102   PMID:19018281   PMID:19164092  
PMID:19336475   PMID:19369647   PMID:19433586   PMID:19491387   PMID:19695247   PMID:19717842   PMID:19800417   PMID:19913121   PMID:20017959   PMID:20495294   PMID:20628086   PMID:20734064  
PMID:20855565   PMID:20926921   PMID:21081692   PMID:21241784   PMID:21498783   PMID:21543206   PMID:21680814   PMID:21826994   PMID:21873635   PMID:21919688   PMID:21933124   PMID:22553833  
PMID:23688034   PMID:24848981   PMID:25475467   PMID:25819461   PMID:26514267   PMID:27862896   PMID:31150775   PMID:32296183   PMID:33438746   PMID:33445064   PMID:33618749   PMID:33961781  
PMID:35844135   PMID:37149695   PMID:37361522  


Genomics

Comparative Map Data
LIPE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381942,401,514 - 42,427,388 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1942,401,497 - 42,427,388 (-)Ensemblhg38GRCh38
GRCh371942,905,666 - 42,931,540 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361947,597,506 - 47,623,418 (-)NCBIBuild 36Build 36hg18NCBI36
Build 341947,597,505 - 47,623,418NCBI
Celera1939,706,455 - 39,732,367 (-)NCBICelera
Cytogenetic Map19q13.2NCBI
HuRef1939,335,797 - 39,361,703 (-)NCBIHuRef
CHM1_11942,907,316 - 42,933,231 (-)NCBICHM1_1
T2T-CHM13v2.01945,220,900 - 45,246,776 (-)NCBIT2T-CHM13v2.0
Lipe
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39725,078,952 - 25,097,911 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl725,078,952 - 25,098,135 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38725,379,527 - 25,398,486 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl725,379,527 - 25,398,710 (-)Ensemblmm10GRCm38
MGSCv37726,164,546 - 26,181,006 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36725,088,287 - 25,104,747 (-)NCBIMGSCv36mm8
Celera719,994,853 - 20,011,313 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map713.78NCBI
Lipe
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8190,093,433 - 90,112,117 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl190,093,433 - 90,112,117 (-)EnsemblGRCr8
mRatBN7.2180,965,612 - 80,984,313 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl180,965,627 - 80,984,310 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx186,357,834 - 86,376,510 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0194,909,045 - 94,927,749 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0188,113,613 - 88,132,294 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0182,248,031 - 82,266,727 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl182,248,046 - 82,266,727 (-)Ensemblrn6Rnor6.0
Rnor_5.0183,511,504 - 83,530,200 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4180,663,791 - 80,682,480 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera175,407,246 - 75,425,931 (-)NCBICelera
RGSC_v3.1180,741,901 - 80,760,591 (-)NCBI
Cytogenetic Map1q21NCBI
Lipe
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955555514,410 - 530,759 (+)Ensembl
ChiLan1.0NW_004955555511,085 - 531,165 (+)NCBIChiLan1.0ChiLan1.0
LIPE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22048,506,457 - 48,534,733 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11950,375,028 - 50,400,941 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01939,289,162 - 39,315,067 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11947,881,292 - 47,907,066 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1947,881,292 - 47,907,066 (-)EnsemblpanPan2panpan1.1
LIPE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11111,987,862 - 112,006,492 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1111,988,029 - 112,006,461 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1111,412,499 - 111,431,532 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01112,598,798 - 112,617,839 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1112,607,340 - 112,617,499 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11112,153,322 - 112,171,913 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01111,788,548 - 111,807,575 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01112,715,381 - 112,734,429 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Lipe
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934915,772,658 - 15,792,162 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936706128,133 - 141,276 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936706122,939 - 139,506 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LIPE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl649,540,708 - 49,560,125 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1649,543,671 - 49,560,126 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2645,443,742 - 45,454,621 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap6q12NCBI
LIPE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1636,604,822 - 36,630,648 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl636,605,126 - 36,630,376 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607314,849,833 - 14,875,994 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lipe
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624907363,572 - 379,194 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_004624907360,462 - 379,266 (+)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in LIPE
197 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2		 pathogenic
GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1 copy number loss See cases [RCV000053975] Chr19:41930894..43141456 [GRCh38]
Chr19:42514712..43645608 [GRCh37]
Chr19:47126886..48337448 [NCBI36]
Chr19:19q13.2-13.31		 pathogenic
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) deletion LIPE-related disorder [RCV004755778]|LIPE-related familial partial lipodystrophy [RCV000144035] Chr19:42401822..42401840 [GRCh38]
Chr19:42905974..42905992 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
NM_005357.4(LIPE):c.1519_1520dup (p.Ser508fs) duplication LIPE-related familial partial lipodystrophy [RCV000157608] Chr19:42408111..42408112 [GRCh38]
Chr19:42912263..42912264 [GRCh37]
Chr19:19q13.2		 pathogenic
GRCh37/hg19 19q13.2-13.31(chr19:42891150-43922624)x3 copy number gain See cases [RCV000446399] Chr19:42891150..43922624 [GRCh37]
Chr19:19q13.2-13.31		 uncertain significance
NM_005357.4(LIPE):c.998G>A (p.Arg333Gln) single nucleotide variant LIPE-related disorder [RCV003902627]|not provided [RCV000443006]|not specified [RCV001821211] Chr19:42410728 [GRCh38]
Chr19:42914880 [GRCh37]
Chr19:19q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005357.4(LIPE):c.3040G>A (p.Val1014Met) single nucleotide variant LIPE-related disorder [RCV003942463]|LIPE-related familial partial lipodystrophy [RCV001330054]|not provided [RCV000435930] Chr19:42402003 [GRCh38]
Chr19:42906155 [GRCh37]
Chr19:19q13.2		 likely benign|uncertain significance
NM_005357.4(LIPE):c.2429G>A (p.Arg810Gln) single nucleotide variant not specified [RCV000501017] Chr19:42405498 [GRCh38]
Chr19:42909650 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2985C>T (p.Pro995=) single nucleotide variant LIPE-related disorder [RCV003915382]|not provided [RCV003419862]|not specified [RCV000504399] Chr19:42402058 [GRCh38]
Chr19:42906210 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1113C>T (p.Asn371=) single nucleotide variant not provided [RCV003424059]|not specified [RCV000500027] Chr19:42410613 [GRCh38]
Chr19:42914765 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.170C>A (p.Pro57His) single nucleotide variant Inborn genetic diseases [RCV003276182] Chr19:42426980 [GRCh38]
Chr19:42931132 [GRCh37]
Chr19:19q13.2		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_005357.4(LIPE):c.2680A>G (p.Met894Val) single nucleotide variant Inborn genetic diseases [RCV003239607] Chr19:42402894 [GRCh38]
Chr19:42907046 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.3103G>T (p.Glu1035Ter) single nucleotide variant LIPE-related familial partial lipodystrophy [RCV000625731]|not provided [RCV004719908] Chr19:42401940 [GRCh38]
Chr19:42906092 [GRCh37]
Chr19:19q13.2		 pathogenic|likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele duplication Schizophrenia [RCV000754211] Chr19:41608672..44315856 [GRCh38]
Chr19:19q13.2-13.31		 likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_005357.4(LIPE):c.2543-262CA[21] microsatellite not provided [RCV001644141] Chr19:42403242..42403251 [GRCh38]
Chr19:42907394..42907403 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.1338C>T (p.Asp446=) single nucleotide variant not provided [RCV000918362] Chr19:42410388 [GRCh38]
Chr19:42914540 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2543-262CA[24] microsatellite not provided [RCV001610277] Chr19:42403242..42403245 [GRCh38]
Chr19:42907394..42907397 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2543-262CA[22] microsatellite not provided [RCV001693293] Chr19:42403242..42403249 [GRCh38]
Chr19:42907394..42907401 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.581C>T (p.Ala194Val) single nucleotide variant LIPE-related disorder [RCV003930568]|not provided [RCV000882431] Chr19:42426569 [GRCh38]
Chr19:42930721 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1555G>A (p.Asp519Asn) single nucleotide variant not provided [RCV000903461]|not specified [RCV001818765] Chr19:42408077 [GRCh38]
Chr19:42912229 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_005357.4(LIPE):c.1210C>T (p.Arg404Cys) single nucleotide variant LIPE-related disorder [RCV003930612]|not provided [RCV000884273]|not specified [RCV001817086] Chr19:42410516 [GRCh38]
Chr19:42914668 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_005357.4(LIPE):c.1788A>G (p.Thr596=) single nucleotide variant not provided [RCV000914346] Chr19:42407660 [GRCh38]
Chr19:42911812 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1491A>T (p.Lys497Asn) single nucleotide variant not provided [RCV000879185] Chr19:42408251 [GRCh38]
Chr19:42912403 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_005357.4(LIPE):c.2880C>T (p.Tyr960=) single nucleotide variant LIPE-related disorder [RCV003950411]|not provided [RCV000892686] Chr19:42402694 [GRCh38]
Chr19:42906846 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2812C>A (p.Arg938Ser) single nucleotide variant not provided [RCV000959568] Chr19:42402762 [GRCh38]
Chr19:42906914 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.3172G>C (p.Gly1058Arg) single nucleotide variant not provided [RCV000880338] Chr19:42401871 [GRCh38]
Chr19:42906023 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1638C>T (p.Thr546=) single nucleotide variant LIPE-related disorder [RCV003940397]|not provided [RCV000880175] Chr19:42407994 [GRCh38]
Chr19:42912146 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2662T>C (p.Ser888Pro) single nucleotide variant LIPE-related disorder [RCV003940378]|not provided [RCV000879501] Chr19:42402912 [GRCh38]
Chr19:42907064 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.1989C>T (p.His663=) single nucleotide variant not provided [RCV000906877] Chr19:42407322 [GRCh38]
Chr19:42911474 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2543-261A>T single nucleotide variant not provided [RCV001608811] Chr19:42403292 [GRCh38]
Chr19:42907444 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2655C>T (p.Ser885=) single nucleotide variant not provided [RCV000904111] Chr19:42402919 [GRCh38]
Chr19:42907071 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.280G>A (p.Ala94Thr) single nucleotide variant not provided [RCV000893771]|not specified [RCV001818690] Chr19:42426870 [GRCh38]
Chr19:42931022 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_005357.4(LIPE):c.1677G>A (p.Ser559=) single nucleotide variant not provided [RCV000966259] Chr19:42407771 [GRCh38]
Chr19:42911923 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.167G>A (p.Arg56Lys) single nucleotide variant not provided [RCV000918820] Chr19:42426983 [GRCh38]
Chr19:42931135 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2224G>A (p.Gly742Arg) single nucleotide variant not provided [RCV000880235]|not specified [RCV001817063] Chr19:42406302 [GRCh38]
Chr19:42910454 [GRCh37]
Chr19:19q13.2		 benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NM_005357.4(LIPE):c.2262G>A (p.Pro754=) single nucleotide variant not provided [RCV000959569] Chr19:42406264 [GRCh38]
Chr19:42910416 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.1905G>A (p.Pro635=) single nucleotide variant not provided [RCV000959570] Chr19:42407406 [GRCh38]
Chr19:42911558 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.1697G>A (p.Arg566His) single nucleotide variant Inborn genetic diseases [RCV003247454] Chr19:42407751 [GRCh38]
Chr19:42911903 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1684G>A (p.Val562Met) single nucleotide variant Inborn genetic diseases [RCV003290772] Chr19:42407764 [GRCh38]
Chr19:42911916 [GRCh37]
Chr19:19q13.2		 uncertain significance
NC_000019.9:g.(?_39904727)_(42931301_?)dup duplication Diamond-Blackfan anemia [RCV003122291]|MEGF8-related Carpenter syndrome [RCV003105286]|Maple syrup urine disease [RCV003105287]|TWIST1-related craniosynostosis [RCV003105285] Chr19:39904727..42931301 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1196G>A (p.Arg399His) single nucleotide variant Inborn genetic diseases [RCV003241213] Chr19:42410530 [GRCh38]
Chr19:42914682 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2543-262CA[23] microsatellite not provided [RCV001713800] Chr19:42403242..42403247 [GRCh38]
Chr19:42907394..42907399 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2543-263_2543-262dup duplication not provided [RCV001652855] Chr19:42403292..42403293 [GRCh38]
Chr19:42907444..42907445 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2968-44C>G single nucleotide variant not provided [RCV001594699] Chr19:42402119 [GRCh38]
Chr19:42906271 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.1505G>A (p.Gly502Asp) single nucleotide variant Inborn genetic diseases [RCV003276098] Chr19:42408237 [GRCh38]
Chr19:42912389 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.436C>T (p.Pro146Ser) single nucleotide variant not provided [RCV000889135]|not specified [RCV003151185] Chr19:42426714 [GRCh38]
Chr19:42930866 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.117G>A (p.Ser39=) single nucleotide variant not provided [RCV000974653]|not specified [RCV001819143] Chr19:42427033 [GRCh38]
Chr19:42931185 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_005357.4(LIPE):c.3165C>T (p.Ala1055=) single nucleotide variant not provided [RCV000979354] Chr19:42401878 [GRCh38]
Chr19:42906030 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.522A>G (p.Glu174=) single nucleotide variant LIPE-related disorder [RCV003960373]|not provided [RCV000918819] Chr19:42426628 [GRCh38]
Chr19:42930780 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_005357.4(LIPE):c.295C>T (p.Pro99Ser) single nucleotide variant not provided [RCV000897071] Chr19:42426855 [GRCh38]
Chr19:42931007 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.1495A>C (p.Asn499His) single nucleotide variant not provided [RCV000959278] Chr19:42408247 [GRCh38]
Chr19:42912399 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.1626C>T (p.Phe542=) single nucleotide variant not provided [RCV000897070] Chr19:42408006 [GRCh38]
Chr19:42912158 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.1510+8C>T single nucleotide variant not provided [RCV000980817] Chr19:42408224 [GRCh38]
Chr19:42912376 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2223C>T (p.Tyr741=) single nucleotide variant LIPE-related disorder [RCV003928551]|not provided [RCV000973225]|not specified [RCV001819131] Chr19:42406303 [GRCh38]
Chr19:42910455 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_005357.4(LIPE):c.551C>A (p.Ser184Ter) single nucleotide variant LIPE-related familial partial lipodystrophy [RCV003325528]|not provided [RCV000962727] Chr19:42426599 [GRCh38]
Chr19:42930751 [GRCh37]
Chr19:19q13.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005357.4(LIPE):c.1561G>A (p.Glu521Lys) single nucleotide variant not provided [RCV000912904] Chr19:42408071 [GRCh38]
Chr19:42912223 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1929G>A (p.Ser643=) single nucleotide variant not provided [RCV000912328] Chr19:42407382 [GRCh38]
Chr19:42911534 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.529T>A (p.Ser177Thr) single nucleotide variant LIPE-related disorder [RCV003921288]|not provided [RCV001636263] Chr19:42426621 [GRCh38]
Chr19:42930773 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2365+143TG[19] microsatellite not provided [RCV001676665] Chr19:42405977..42405980 [GRCh38]
Chr19:42910129..42910132 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.883+142_883+144dup duplication not provided [RCV001637281] Chr19:42426101..42426102 [GRCh38]
Chr19:42930253..42930254 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2968-46G>C single nucleotide variant not provided [RCV001619223] Chr19:42402121 [GRCh38]
Chr19:42906273 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.650G>A (p.Arg217Gln) single nucleotide variant LIPE-related disorder [RCV003913343]|not provided [RCV001721767] Chr19:42426500 [GRCh38]
Chr19:42930652 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.1269C>T (p.Arg423=) single nucleotide variant not provided [RCV001721769] Chr19:42410457 [GRCh38]
Chr19:42914609 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2365+143TG[20] microsatellite not provided [RCV001638239] Chr19:42405977..42405978 [GRCh38]
Chr19:42910129..42910130 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2137+238C>T single nucleotide variant not provided [RCV001658714] Chr19:42406936 [GRCh38]
Chr19:42911088 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2365+143TG[22] microsatellite not provided [RCV001686762] Chr19:42405976..42405977 [GRCh38]
Chr19:42910128..42910129 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2365+143TG[16] microsatellite not provided [RCV001687304] Chr19:42405977..42405986 [GRCh38]
Chr19:42910129..42910138 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.883+131T>A single nucleotide variant not provided [RCV001686065] Chr19:42426136 [GRCh38]
Chr19:42930288 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2365+143TG[18] microsatellite not provided [RCV001665567] Chr19:42405977..42405982 [GRCh38]
Chr19:42910129..42910134 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2365+181T>A single nucleotide variant not provided [RCV001690629] Chr19:42405980 [GRCh38]
Chr19:42910132 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2543-262CA[25] microsatellite not provided [RCV001649522] Chr19:42403242..42403243 [GRCh38]
Chr19:42907394..42907395 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.298T>C (p.Tyr100His) single nucleotide variant not provided [RCV001644115] Chr19:42426852 [GRCh38]
Chr19:42931004 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.913C>T (p.Arg305Cys) single nucleotide variant LIPE-related familial partial lipodystrophy [RCV001294211] Chr19:42410813 [GRCh38]
Chr19:42914965 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2152C>T (p.Arg718Ter) single nucleotide variant LIPE-related familial partial lipodystrophy [RCV001329399] Chr19:42406374 [GRCh38]
Chr19:42910526 [GRCh37]
Chr19:19q13.2		 likely pathogenic
NM_005357.4(LIPE):c.1291C>T (p.Arg431Cys) single nucleotide variant not provided [RCV001356517] Chr19:42410435 [GRCh38]
Chr19:42914587 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1051G>A (p.Ala351Thr) single nucleotide variant not provided [RCV001356513] Chr19:42410675 [GRCh38]
Chr19:42914827 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1544G>A (p.Arg515His) single nucleotide variant Inborn genetic diseases [RCV004988100] Chr19:42408088 [GRCh38]
Chr19:42912240 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2779G>T (p.Glu927Ter) single nucleotide variant Familial partial lipodystrophy 6 [RCV001329400] Chr19:42402795 [GRCh38]
Chr19:42906947 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_005357.4(LIPE):c.2452C>T (p.Arg818Ter) single nucleotide variant Familial partial lipodystrophy 6 [RCV001335260] Chr19:42405475 [GRCh38]
Chr19:42909627 [GRCh37]
Chr19:19q13.2		 pathogenic
NM_005357.4(LIPE):c.1420-254dup duplication not provided [RCV001650445] Chr19:42408565..42408566 [GRCh38]
Chr19:42912717..42912718 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.171C>T (p.Pro57=) single nucleotide variant not provided [RCV001727101] Chr19:42426979 [GRCh38]
Chr19:42931131 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1091T>C (p.Leu364Pro) single nucleotide variant Inborn genetic diseases [RCV003276930] Chr19:42410635 [GRCh38]
Chr19:42914787 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1559C>T (p.Pro520Leu) single nucleotide variant not provided [RCV001732895] Chr19:42408073 [GRCh38]
Chr19:42912225 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.818G>A (p.Gly273Glu) single nucleotide variant not specified [RCV001817360] Chr19:42426332 [GRCh38]
Chr19:42930484 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.581C>G (p.Ala194Gly) single nucleotide variant not specified [RCV001817463] Chr19:42426569 [GRCh38]
Chr19:42930721 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2166G>A (p.Ala722=) single nucleotide variant LIPE-related disorder [RCV003941168]|not specified [RCV001818065] Chr19:42406360 [GRCh38]
Chr19:42910512 [GRCh37]
Chr19:19q13.2		 likely benign|uncertain significance
NM_005357.4(LIPE):c.2181C>T (p.Gly727=) single nucleotide variant not specified [RCV001822320] Chr19:42406345 [GRCh38]
Chr19:42910497 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.1831C>T (p.Arg611Cys) single nucleotide variant LIPE-related disorder [RCV003984351]|See cases [RCV003128475] Chr19:42407617 [GRCh38]
Chr19:42911769 [GRCh37]
Chr19:19q13.2		 benign
NM_005357.4(LIPE):c.2953C>T (p.Pro985Ser) single nucleotide variant Inborn genetic diseases [RCV003256376] Chr19:42402621 [GRCh38]
Chr19:42906773 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.3188C>G (p.Thr1063Arg) single nucleotide variant Inborn genetic diseases [RCV003263027] Chr19:42401855 [GRCh38]
Chr19:42906007 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1180G>A (p.Val394Met) single nucleotide variant Inborn genetic diseases [RCV003263100] Chr19:42410546 [GRCh38]
Chr19:42914698 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.674T>C (p.Leu225Pro) single nucleotide variant Inborn genetic diseases [RCV003012756] Chr19:42426476 [GRCh38]
Chr19:42930628 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1904C>T (p.Pro635Leu) single nucleotide variant Inborn genetic diseases [RCV002905512] Chr19:42407407 [GRCh38]
Chr19:42911559 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.934G>A (p.Val312Met) single nucleotide variant Inborn genetic diseases [RCV002991239] Chr19:42410792 [GRCh38]
Chr19:42914944 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.3191G>C (p.Gly1064Ala) single nucleotide variant Inborn genetic diseases [RCV002749635] Chr19:42401852 [GRCh38]
Chr19:42906004 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1846A>G (p.Ser616Gly) single nucleotide variant Inborn genetic diseases [RCV002997500] Chr19:42407465 [GRCh38]
Chr19:42911617 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.70C>T (p.Pro24Ser) single nucleotide variant Inborn genetic diseases [RCV002860878] Chr19:42427080 [GRCh38]
Chr19:42931232 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1142G>A (p.Arg381His) single nucleotide variant Inborn genetic diseases [RCV002946259] Chr19:42410584 [GRCh38]
Chr19:42914736 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2666C>T (p.Ser889Leu) single nucleotide variant Inborn genetic diseases [RCV002754688] Chr19:42402908 [GRCh38]
Chr19:42907060 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1957G>A (p.Gly653Ser) single nucleotide variant Inborn genetic diseases [RCV002729682] Chr19:42407354 [GRCh38]
Chr19:42911506 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.251A>T (p.Gln84Leu) single nucleotide variant Inborn genetic diseases [RCV002969525] Chr19:42426899 [GRCh38]
Chr19:42931051 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.920T>C (p.Met307Thr) single nucleotide variant Inborn genetic diseases [RCV002776900] Chr19:42410806 [GRCh38]
Chr19:42914958 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2219C>G (p.Ala740Gly) single nucleotide variant Inborn genetic diseases [RCV002865723] Chr19:42406307 [GRCh38]
Chr19:42910459 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2248A>C (p.Met750Leu) single nucleotide variant Inborn genetic diseases [RCV002883682] Chr19:42406278 [GRCh38]
Chr19:42910430 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1807G>A (p.Val603Ile) single nucleotide variant Inborn genetic diseases [RCV002981731] Chr19:42407641 [GRCh38]
Chr19:42911793 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1018G>A (p.Gly340Ser) single nucleotide variant Inborn genetic diseases [RCV002704342] Chr19:42410708 [GRCh38]
Chr19:42914860 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1567C>T (p.Arg523Cys) single nucleotide variant Inborn genetic diseases [RCV002798683] Chr19:42408065 [GRCh38]
Chr19:42912217 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.975G>C (p.Gln325His) single nucleotide variant Inborn genetic diseases [RCV002737195] Chr19:42410751 [GRCh38]
Chr19:42914903 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.3049C>G (p.Arg1017Gly) single nucleotide variant Inborn genetic diseases [RCV002887037] Chr19:42401994 [GRCh38]
Chr19:42906146 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2182G>A (p.Gly728Arg) single nucleotide variant Inborn genetic diseases [RCV002925050] Chr19:42406344 [GRCh38]
Chr19:42910496 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2933G>A (p.Ser978Asn) single nucleotide variant Inborn genetic diseases [RCV002784650] Chr19:42402641 [GRCh38]
Chr19:42906793 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1049C>T (p.Pro350Leu) single nucleotide variant Inborn genetic diseases [RCV002951988] Chr19:42410677 [GRCh38]
Chr19:42914829 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2425G>C (p.Val809Leu) single nucleotide variant Inborn genetic diseases [RCV002739501] Chr19:42405502 [GRCh38]
Chr19:42909654 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.700T>C (p.Ser234Pro) single nucleotide variant Inborn genetic diseases [RCV003001199] Chr19:42426450 [GRCh38]
Chr19:42930602 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2789C>G (p.Pro930Arg) single nucleotide variant Inborn genetic diseases [RCV002830273] Chr19:42402785 [GRCh38]
Chr19:42906937 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.397C>G (p.Gln133Glu) single nucleotide variant Inborn genetic diseases [RCV002697715] Chr19:42426753 [GRCh38]
Chr19:42930905 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.3212G>A (p.Gly1071Asp) single nucleotide variant Inborn genetic diseases [RCV002788323] Chr19:42401831 [GRCh38]
Chr19:42905983 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1424C>T (p.Thr475Met) single nucleotide variant Inborn genetic diseases [RCV002641874] Chr19:42408318 [GRCh38]
Chr19:42912470 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2954C>T (p.Pro985Leu) single nucleotide variant Inborn genetic diseases [RCV002939391] Chr19:42402620 [GRCh38]
Chr19:42906772 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1307A>C (p.Asn436Thr) single nucleotide variant Inborn genetic diseases [RCV002934857] Chr19:42410419 [GRCh38]
Chr19:42914571 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.53A>G (p.His18Arg) single nucleotide variant Inborn genetic diseases [RCV002959329] Chr19:42427097 [GRCh38]
Chr19:42931249 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2453G>A (p.Arg818Gln) single nucleotide variant Inborn genetic diseases [RCV002674714] Chr19:42405474 [GRCh38]
Chr19:42909626 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1801G>A (p.Val601Ile) single nucleotide variant Inborn genetic diseases [RCV002898460] Chr19:42407647 [GRCh38]
Chr19:42911799 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2900A>G (p.Asn967Ser) single nucleotide variant Inborn genetic diseases [RCV002679177] Chr19:42402674 [GRCh38]
Chr19:42906826 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2461C>T (p.Arg821Cys) single nucleotide variant LIPE-related disorder [RCV003410269]|LIPE-related familial partial lipodystrophy [RCV003131484] Chr19:42405466 [GRCh38]
Chr19:42909618 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.415C>G (p.Pro139Ala) single nucleotide variant Inborn genetic diseases [RCV003190154] Chr19:42426735 [GRCh38]
Chr19:42930887 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.839A>T (p.His280Leu) single nucleotide variant Inborn genetic diseases [RCV003205951] Chr19:42426311 [GRCh38]
Chr19:42930463 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.3218G>A (p.Gly1073Glu) single nucleotide variant Inborn genetic diseases [RCV003185796] Chr19:42401825 [GRCh38]
Chr19:42905977 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2677G>A (p.Glu893Lys) single nucleotide variant Inborn genetic diseases [RCV003194895] Chr19:42402897 [GRCh38]
Chr19:42907049 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.3028C>G (p.Leu1010Val) single nucleotide variant Inborn genetic diseases [RCV003199260] Chr19:42402015 [GRCh38]
Chr19:42906167 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2027C>T (p.Ala676Val) single nucleotide variant Inborn genetic diseases [RCV003174388] Chr19:42407284 [GRCh38]
Chr19:42911436 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1664C>T (p.Ala555Val) single nucleotide variant Inborn genetic diseases [RCV003265353] Chr19:42407784 [GRCh38]
Chr19:42911936 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1694G>A (p.Ser565Asn) single nucleotide variant Inborn genetic diseases [RCV003309891] Chr19:42407754 [GRCh38]
Chr19:42911906 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.76G>C (p.Glu26Gln) single nucleotide variant Inborn genetic diseases [RCV003356918] Chr19:42427074 [GRCh38]
Chr19:42931226 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2165C>T (p.Ala722Val) single nucleotide variant Inborn genetic diseases [RCV003343574] Chr19:42406361 [GRCh38]
Chr19:42910513 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2696A>G (p.Glu899Gly) single nucleotide variant Inborn genetic diseases [RCV003361337] Chr19:42402878 [GRCh38]
Chr19:42907030 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1468G>C (p.Val490Leu) single nucleotide variant Inborn genetic diseases [RCV003347273] Chr19:42408274 [GRCh38]
Chr19:42912426 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2329C>T (p.Leu777Phe) single nucleotide variant LIPE-related disorder [RCV003427897] Chr19:42406197 [GRCh38]
Chr19:42910349 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.3221G>C (p.Gly1074Ala) single nucleotide variant LIPE-related disorder [RCV003929105]|not provided [RCV003425233] Chr19:42401822 [GRCh38]
Chr19:42905974 [GRCh37]
Chr19:19q13.2		 benign|likely benign
NM_005357.4(LIPE):c.1252G>A (p.Ala418Thr) single nucleotide variant not provided [RCV003415299] Chr19:42410474 [GRCh38]
Chr19:42914626 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.446C>T (p.Ala149Val) single nucleotide variant not provided [RCV003415300] Chr19:42426704 [GRCh38]
Chr19:42930856 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2137+3G>A single nucleotide variant LIPE-related disorder [RCV003939624] Chr19:42407171 [GRCh38]
Chr19:42911323 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2968-9G>C single nucleotide variant LIPE-related disorder [RCV003902180] Chr19:42402084 [GRCh38]
Chr19:42906236 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1497C>T (p.Asn499=) single nucleotide variant Inborn genetic diseases [RCV004987151]|LIPE-related disorder [RCV003981225]|not provided [RCV004810654] Chr19:42408245 [GRCh38]
Chr19:42912397 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.3195T>G (p.Ala1065=) single nucleotide variant not provided [RCV003885179] Chr19:42401848 [GRCh38]
Chr19:42906000 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2499G>A (p.Glu833=) single nucleotide variant LIPE-related disorder [RCV004756680] Chr19:42405428 [GRCh38]
Chr19:42909580 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.3090G>C (p.Ala1030=) single nucleotide variant LIPE-related disorder [RCV003921537] Chr19:42401953 [GRCh38]
Chr19:42906105 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1024C>T (p.Arg342Trp) single nucleotide variant Inborn genetic diseases [RCV004407377] Chr19:42410702 [GRCh38]
Chr19:42914854 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1025G>A (p.Arg342Gln) single nucleotide variant Inborn genetic diseases [RCV004407378] Chr19:42410701 [GRCh38]
Chr19:42914853 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1052C>T (p.Ala351Val) single nucleotide variant Inborn genetic diseases [RCV004407379] Chr19:42410674 [GRCh38]
Chr19:42914826 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1121G>A (p.Arg374His) single nucleotide variant Inborn genetic diseases [RCV004407380] Chr19:42410605 [GRCh38]
Chr19:42914757 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1190A>G (p.Asn397Ser) single nucleotide variant Inborn genetic diseases [RCV004407381] Chr19:42410536 [GRCh38]
Chr19:42914688 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1193G>A (p.Arg398His) single nucleotide variant Inborn genetic diseases [RCV004407382] Chr19:42410533 [GRCh38]
Chr19:42914685 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1310G>A (p.Arg437Gln) single nucleotide variant Inborn genetic diseases [RCV004407383]|not provided [RCV005001459] Chr19:42410416 [GRCh38]
Chr19:42914568 [GRCh37]
Chr19:19q13.2		 likely benign|uncertain significance
NM_005357.4(LIPE):c.1402C>T (p.Arg468Cys) single nucleotide variant Inborn genetic diseases [RCV004407384] Chr19:42410324 [GRCh38]
Chr19:42914476 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1477G>A (p.Gly493Arg) single nucleotide variant Inborn genetic diseases [RCV004407385] Chr19:42408265 [GRCh38]
Chr19:42912417 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.172C>T (p.Leu58Phe) single nucleotide variant Inborn genetic diseases [RCV004407386] Chr19:42426978 [GRCh38]
Chr19:42931130 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1951C>T (p.His651Tyr) single nucleotide variant Inborn genetic diseases [RCV004407387] Chr19:42407360 [GRCh38]
Chr19:42911512 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2053C>A (p.Leu685Met) single nucleotide variant Inborn genetic diseases [RCV004407388] Chr19:42407258 [GRCh38]
Chr19:42911410 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2084T>C (p.Leu695Pro) single nucleotide variant Inborn genetic diseases [RCV004407389] Chr19:42407227 [GRCh38]
Chr19:42911379 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2109C>G (p.Cys703Trp) single nucleotide variant Inborn genetic diseases [RCV004407390] Chr19:42407202 [GRCh38]
Chr19:42911354 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2123A>G (p.His708Arg) single nucleotide variant Inborn genetic diseases [RCV004407391] Chr19:42407188 [GRCh38]
Chr19:42911340 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.227G>C (p.Arg76Thr) single nucleotide variant Inborn genetic diseases [RCV004407392] Chr19:42426923 [GRCh38]
Chr19:42931075 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2395G>C (p.Asp799His) single nucleotide variant Inborn genetic diseases [RCV004407393] Chr19:42405532 [GRCh38]
Chr19:42909684 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2428C>T (p.Arg810Trp) single nucleotide variant Inborn genetic diseases [RCV004407394] Chr19:42405499 [GRCh38]
Chr19:42909651 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2552G>A (p.Arg851His) single nucleotide variant Inborn genetic diseases [RCV004407395] Chr19:42403022 [GRCh38]
Chr19:42907174 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.262C>A (p.Leu88Ile) single nucleotide variant Inborn genetic diseases [RCV004407396] Chr19:42426888 [GRCh38]
Chr19:42931040 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2707C>T (p.Pro903Ser) single nucleotide variant Inborn genetic diseases [RCV004407397] Chr19:42402867 [GRCh38]
Chr19:42907019 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2926C>T (p.Pro976Ser) single nucleotide variant Inborn genetic diseases [RCV004407398] Chr19:42402648 [GRCh38]
Chr19:42906800 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2984C>T (p.Pro995Leu) single nucleotide variant Inborn genetic diseases [RCV004407399] Chr19:42402059 [GRCh38]
Chr19:42906211 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.3203T>G (p.Val1068Gly) single nucleotide variant Inborn genetic diseases [RCV004407400] Chr19:42401840 [GRCh38]
Chr19:42905992 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.527C>T (p.Thr176Met) single nucleotide variant Inborn genetic diseases [RCV004407401] Chr19:42426623 [GRCh38]
Chr19:42930775 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.830C>T (p.Thr277Met) single nucleotide variant Inborn genetic diseases [RCV004407404] Chr19:42426320 [GRCh38]
Chr19:42930472 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.86C>G (p.Pro29Arg) single nucleotide variant Inborn genetic diseases [RCV004407405] Chr19:42427064 [GRCh38]
Chr19:42931216 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.977G>T (p.Gly326Val) single nucleotide variant Inborn genetic diseases [RCV004407406] Chr19:42410749 [GRCh38]
Chr19:42914901 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.3079C>A (p.Leu1027Met) single nucleotide variant LIPE-related familial partial lipodystrophy [RCV004555999] Chr19:42401964 [GRCh38]
Chr19:42906116 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.3191G>A (p.Gly1064Glu) single nucleotide variant Inborn genetic diseases [RCV004642618] Chr19:42401852 [GRCh38]
Chr19:42906004 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.370A>G (p.Ile124Val) single nucleotide variant Inborn genetic diseases [RCV004642619] Chr19:42426780 [GRCh38]
Chr19:42930932 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2793G>A (p.Met931Ile) single nucleotide variant Inborn genetic diseases [RCV004637137] Chr19:42402781 [GRCh38]
Chr19:42906933 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.448C>G (p.Gln150Glu) single nucleotide variant Inborn genetic diseases [RCV004634008]|not provided [RCV005422494] Chr19:42426702 [GRCh38]
Chr19:42930854 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2528C>T (p.Ser843Leu) single nucleotide variant Inborn genetic diseases [RCV004642616] Chr19:42405399 [GRCh38]
Chr19:42909551 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2975C>T (p.Ala992Val) single nucleotide variant Inborn genetic diseases [RCV004642620] Chr19:42402068 [GRCh38]
Chr19:42906220 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2845C>T (p.Arg949Cys) single nucleotide variant Inborn genetic diseases [RCV004642615] Chr19:42402729 [GRCh38]
Chr19:42906881 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1744G>A (p.Asp582Asn) single nucleotide variant LIPE-related disorder [RCV004756752] Chr19:42407704 [GRCh38]
Chr19:42911856 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.840T>C (p.His280=) single nucleotide variant not provided [RCV004722634] Chr19:42426310 [GRCh38]
Chr19:42930462 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.3165C>G (p.Ala1055=) single nucleotide variant not provided [RCV004722512] Chr19:42401878 [GRCh38]
Chr19:42906030 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2366-10T>C single nucleotide variant LIPE-related disorder [RCV004756796] Chr19:42405571 [GRCh38]
Chr19:42909723 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.63T>C (p.Pro21=) single nucleotide variant LIPE-related disorder [RCV004757015] Chr19:42427087 [GRCh38]
Chr19:42931239 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.3212G>C (p.Gly1071Ala) single nucleotide variant LIPE-related familial partial lipodystrophy [RCV004771717] Chr19:42401831 [GRCh38]
Chr19:42905983 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2917C>A (p.Leu973Met) single nucleotide variant Inborn genetic diseases [RCV004988103] Chr19:42402657 [GRCh38]
Chr19:42906809 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2101G>A (p.Ala701Thr) single nucleotide variant Inborn genetic diseases [RCV004988109] Chr19:42407210 [GRCh38]
Chr19:42911362 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2096T>G (p.Phe699Cys) single nucleotide variant Inborn genetic diseases [RCV004988111] Chr19:42407215 [GRCh38]
Chr19:42911367 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1476C>G (p.Phe492Leu) single nucleotide variant Inborn genetic diseases [RCV004988112] Chr19:42408266 [GRCh38]
Chr19:42912418 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1931G>A (p.Arg644Gln) single nucleotide variant Inborn genetic diseases [RCV004988093] Chr19:42407380 [GRCh38]
Chr19:42911532 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1886G>A (p.Arg629Gln) single nucleotide variant Inborn genetic diseases [RCV004988101] Chr19:42407425 [GRCh38]
Chr19:42911577 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1335C>T (p.Gly445=) single nucleotide variant Inborn genetic diseases [RCV004988110] Chr19:42410391 [GRCh38]
Chr19:42914543 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.3169G>C (p.Ala1057Pro) single nucleotide variant Inborn genetic diseases [RCV004988097] Chr19:42401874 [GRCh38]
Chr19:42906026 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.1832G>A (p.Arg611His) single nucleotide variant Inborn genetic diseases [RCV004988099] Chr19:42407616 [GRCh38]
Chr19:42911768 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2937G>A (p.Met979Ile) single nucleotide variant Inborn genetic diseases [RCV004988107] Chr19:42402637 [GRCh38]
Chr19:42906789 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1134C>G (p.His378Gln) single nucleotide variant Inborn genetic diseases [RCV004988094] Chr19:42410592 [GRCh38]
Chr19:42914744 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1156C>T (p.His386Tyr) single nucleotide variant Inborn genetic diseases [RCV004988095] Chr19:42410570 [GRCh38]
Chr19:42914722 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.238A>C (p.Lys80Gln) single nucleotide variant Inborn genetic diseases [RCV004988096] Chr19:42426912 [GRCh38]
Chr19:42931064 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.28A>T (p.Arg10Trp) single nucleotide variant Inborn genetic diseases [RCV004988098] Chr19:42427122 [GRCh38]
Chr19:42931274 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.716G>A (p.Gly239Glu) single nucleotide variant Inborn genetic diseases [RCV004988102] Chr19:42426434 [GRCh38]
Chr19:42930586 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1019G>A (p.Gly340Asp) single nucleotide variant Inborn genetic diseases [RCV004988104] Chr19:42410707 [GRCh38]
Chr19:42914859 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.439C>G (p.Pro147Ala) single nucleotide variant Inborn genetic diseases [RCV004988105] Chr19:42426711 [GRCh38]
Chr19:42930863 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.788A>G (p.Lys263Arg) single nucleotide variant Inborn genetic diseases [RCV004988106] Chr19:42426362 [GRCh38]
Chr19:42930514 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1093G>A (p.Asp365Asn) single nucleotide variant Inborn genetic diseases [RCV004988108] Chr19:42410633 [GRCh38]
Chr19:42914785 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2697G>T (p.Glu899Asp) single nucleotide variant not provided [RCV005001631] Chr19:42402877 [GRCh38]
Chr19:42907029 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1105C>A (p.Pro369Thr) single nucleotide variant Inborn genetic diseases [RCV005364096] Chr19:42410621 [GRCh38]
Chr19:42914773 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2032A>G (p.Ile678Val) single nucleotide variant Inborn genetic diseases [RCV005362690] Chr19:42407279 [GRCh38]
Chr19:42911431 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.520G>C (p.Glu174Gln) single nucleotide variant Inborn genetic diseases [RCV005362691] Chr19:42426630 [GRCh38]
Chr19:42930782 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2906T>G (p.Phe969Cys) single nucleotide variant Inborn genetic diseases [RCV005364094] Chr19:42402668 [GRCh38]
Chr19:42906820 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.857G>A (p.Arg286Gln) single nucleotide variant Inborn genetic diseases [RCV005347719] Chr19:42426293 [GRCh38]
Chr19:42930445 [GRCh37]
Chr19:19q13.2		 likely benign
NM_005357.4(LIPE):c.2870T>G (p.Met957Arg) single nucleotide variant Inborn genetic diseases [RCV005347720] Chr19:42402704 [GRCh38]
Chr19:42906856 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.1915C>G (p.Gln639Glu) single nucleotide variant Inborn genetic diseases [RCV005364095] Chr19:42407396 [GRCh38]
Chr19:42911548 [GRCh37]
Chr19:19q13.2		 uncertain significance
NM_005357.4(LIPE):c.2738_2739del (p.Leu913fs) deletion not provided [RCV005423649] Chr19:42402835..42402836 [GRCh38]
Chr19:42906987..42906988 [GRCh37]
Chr19:19q13.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2830
Count of miRNA genes:919
Interacting mature miRNAs:1131
Transcripts:ENST00000244289, ENST00000597001, ENST00000597620, ENST00000599211, ENST00000599783, ENST00000599918, ENST00000600224, ENST00000601189, ENST00000602000
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
RH78664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,911,597 - 42,911,877UniSTSGRCh37
Build 361947,603,437 - 47,603,717RGDNCBI36
Celera1939,712,386 - 39,712,666RGD
Cytogenetic Map19q13.2UniSTS
HuRef1939,341,722 - 39,342,002UniSTS
GeneMap99-GB4 RH Map19241.87UniSTS
RH98494  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,932,825 - 42,932,955UniSTSGRCh37
Build 361947,624,665 - 47,624,795RGDNCBI36
Celera1939,733,614 - 39,733,744RGD
Cytogenetic Map19q13.2UniSTS
HuRef1939,362,950 - 39,363,080UniSTS
GeneMap99-GB4 RH Map19241.44UniSTS
LIPEHSP92I  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,914,468 - 42,914,965UniSTSGRCh37
Build 361947,606,308 - 47,606,805RGDNCBI36
Celera1939,715,257 - 39,715,754RGD
HuRef1939,344,593 - 39,345,090UniSTS
G15903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,905,678 - 42,905,804UniSTSGRCh37
Build 361947,597,518 - 47,597,644RGDNCBI36
Celera1939,706,467 - 39,706,593RGD
Cytogenetic Map19q13.2UniSTS
HuRef1939,335,809 - 39,335,935UniSTS
RH79209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,914,593 - 42,914,712UniSTSGRCh37
Build 361947,606,433 - 47,606,552RGDNCBI36
Celera1939,715,382 - 39,715,501RGD
Cytogenetic Map19q13.2UniSTS
HuRef1939,344,718 - 39,344,837UniSTS
GeneMap99-GB4 RH Map19244.79UniSTS
NCBI RH Map19453.0UniSTS
LIPE  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,912,188 - 42,912,453UniSTSGRCh37
Celera1939,712,977 - 39,713,242UniSTS
HuRef1939,342,313 - 39,342,578UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2434 2788 2250 4945 1716 2334 3 616 1937 458 2268 7268 6448 51 3710 847 1732 1606 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001416100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001416101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001416102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001416103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001416104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001416105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001416106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001416107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001416108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047438836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ222693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ188033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U40002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000244289   ⟹   ENSP00000244289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,401,514 - 42,427,388 (-)Ensembl
Ensembl Acc Id: ENST00000597001   ⟹   ENSP00000469268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,408,311 - 42,423,203 (-)Ensembl
Ensembl Acc Id: ENST00000597620   ⟹   ENSP00000469545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,401,497 - 42,427,149 (-)Ensembl
Ensembl Acc Id: ENST00000599211   ⟹   ENSP00000472531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,408,095 - 42,412,448 (-)Ensembl
Ensembl Acc Id: ENST00000599783   ⟹   ENSP00000469990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,408,087 - 42,424,123 (-)Ensembl
Ensembl Acc Id: ENST00000599918   ⟹   ENSP00000472218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,401,812 - 42,427,149 (-)Ensembl
Ensembl Acc Id: ENST00000600224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,402,673 - 42,405,837 (-)Ensembl
Ensembl Acc Id: ENST00000601189   ⟹   ENSP00000469030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,410,582 - 42,412,347 (-)Ensembl
Ensembl Acc Id: ENST00000602000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1942,407,400 - 42,423,222 (-)Ensembl
RefSeq Acc Id: NM_001416100   ⟹   NP_001403029
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,423,585 (-)NCBI
T2T-CHM13v2.01945,220,900 - 45,242,973 (-)NCBI
RefSeq Acc Id: NM_001416101   ⟹   NP_001403030
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,423,585 (-)NCBI
T2T-CHM13v2.01945,220,900 - 45,242,973 (-)NCBI
RefSeq Acc Id: NM_001416102   ⟹   NP_001403031
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,412,413 (-)NCBI
T2T-CHM13v2.01945,220,900 - 45,231,801 (-)NCBI
RefSeq Acc Id: NM_001416103   ⟹   NP_001403032
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,412,413 (-)NCBI
T2T-CHM13v2.01945,220,900 - 45,231,801 (-)NCBI
RefSeq Acc Id: NM_001416104   ⟹   NP_001403033
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,412,413 (-)NCBI
T2T-CHM13v2.01945,220,900 - 45,231,801 (-)NCBI
RefSeq Acc Id: NM_001416105   ⟹   NP_001403034
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,423,585 (-)NCBI
T2T-CHM13v2.01945,220,900 - 45,242,973 (-)NCBI
RefSeq Acc Id: NM_001416106   ⟹   NP_001403035
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,412,413 (-)NCBI
T2T-CHM13v2.01945,220,900 - 45,231,801 (-)NCBI
RefSeq Acc Id: NM_001416107   ⟹   NP_001403036
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,423,585 (-)NCBI
T2T-CHM13v2.01945,220,900 - 45,242,973 (-)NCBI
RefSeq Acc Id: NM_001416108   ⟹   NP_001403037
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,423,585 (-)NCBI
T2T-CHM13v2.01945,220,900 - 45,242,973 (-)NCBI
RefSeq Acc Id: NM_005357   ⟹   NP_005348
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,427,388 (-)NCBI
GRCh371942,905,664 - 42,931,578 (-)NCBI
Build 361947,597,506 - 47,623,418 (-)NCBI Archive
HuRef1939,335,790 - 39,361,703 (-)NCBI
CHM1_11942,907,309 - 42,933,231 (-)NCBI
T2T-CHM13v2.01945,220,900 - 45,246,776 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005258937   ⟹   XP_005258994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,427,388 (-)NCBI
GRCh371942,905,664 - 42,931,578 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005258939   ⟹   XP_005258996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,413,109 (-)NCBI
GRCh371942,905,664 - 42,931,578 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006723218   ⟹   XP_006723281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,423,277 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047438835   ⟹   XP_047294791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,411,482 (-)NCBI
RefSeq Acc Id: XM_047438836   ⟹   XP_047294792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,401,514 - 42,413,109 (-)NCBI
RefSeq Acc Id: XM_054321021   ⟹   XP_054176996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01945,220,900 - 45,246,776 (-)NCBI
RefSeq Acc Id: XM_054321022   ⟹   XP_054176997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01945,220,900 - 45,232,497 (-)NCBI
RefSeq Acc Id: XM_054321023   ⟹   XP_054176998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01945,220,900 - 45,230,870 (-)NCBI
RefSeq Acc Id: XM_054321024   ⟹   XP_054176999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01945,220,900 - 45,242,665 (-)NCBI
RefSeq Acc Id: XM_054321025   ⟹   XP_054177000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01945,220,900 - 45,232,497 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001403029 (Get FASTA)   NCBI Sequence Viewer  
  NP_001403030 (Get FASTA)   NCBI Sequence Viewer  
  NP_001403031 (Get FASTA)   NCBI Sequence Viewer  
  NP_001403032 (Get FASTA)   NCBI Sequence Viewer  
  NP_001403033 (Get FASTA)   NCBI Sequence Viewer  
  NP_001403034 (Get FASTA)   NCBI Sequence Viewer  
  NP_001403035 (Get FASTA)   NCBI Sequence Viewer  
  NP_001403036 (Get FASTA)   NCBI Sequence Viewer  
  NP_001403037 (Get FASTA)   NCBI Sequence Viewer  
  NP_005348 (Get FASTA)   NCBI Sequence Viewer  
  XP_005258994 (Get FASTA)   NCBI Sequence Viewer  
  XP_005258996 (Get FASTA)   NCBI Sequence Viewer  
  XP_006723281 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294791 (Get FASTA)   NCBI Sequence Viewer  
  XP_047294792 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176996 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176997 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176998 (Get FASTA)   NCBI Sequence Viewer  
  XP_054176999 (Get FASTA)   NCBI Sequence Viewer  
  XP_054177000 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA69810 (Get FASTA)   NCBI Sequence Viewer  
  AAC50666 (Get FASTA)   NCBI Sequence Viewer  
  AAH70041 (Get FASTA)   NCBI Sequence Viewer  
  ABA03168 (Get FASTA)   NCBI Sequence Viewer  
  BAF85171 (Get FASTA)   NCBI Sequence Viewer  
  EAW57135 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000244289
  ENSP00000244289.3
  ENSP00000469545
GenBank Protein Q05469 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005348   ⟸   NM_005357
- Peptide Label: isoform 11
- UniProtKB: Q3LRT2 (UniProtKB/Swiss-Prot),   Q6NSL7 (UniProtKB/Swiss-Prot),   Q05469 (UniProtKB/Swiss-Prot),   A8K8W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005258994   ⟸   XM_005258937
- Peptide Label: isoform X1
- UniProtKB: A8K8W7 (UniProtKB/TrEMBL),   M0QY29 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005258996   ⟸   XM_005258939
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006723281   ⟸   XM_006723218
- Peptide Label: isoform X3
- UniProtKB: Q05469 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000469545   ⟸   ENST00000597620
Ensembl Acc Id: ENSP00000469268   ⟸   ENST00000597001
Ensembl Acc Id: ENSP00000472531   ⟸   ENST00000599211
Ensembl Acc Id: ENSP00000472218   ⟸   ENST00000599918
Ensembl Acc Id: ENSP00000469990   ⟸   ENST00000599783
Ensembl Acc Id: ENSP00000244289   ⟸   ENST00000244289
Ensembl Acc Id: ENSP00000469030   ⟸   ENST00000601189
RefSeq Acc Id: XP_047294792   ⟸   XM_047438836
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047294791   ⟸   XM_047438835
- Peptide Label: isoform X3
RefSeq Acc Id: NP_001403036   ⟸   NM_001416107
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001403034   ⟸   NM_001416105
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001403030   ⟸   NM_001416101
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001403029   ⟸   NM_001416100
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001403037   ⟸   NM_001416108
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001403035   ⟸   NM_001416106
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001403031   ⟸   NM_001416102
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001403032   ⟸   NM_001416103
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001403033   ⟸   NM_001416104
- Peptide Label: isoform 4
RefSeq Acc Id: XP_054176996   ⟸   XM_054321021
- Peptide Label: isoform X1
- UniProtKB: M0QY29 (UniProtKB/TrEMBL),   A8K8W7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054176999   ⟸   XM_054321024
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054177000   ⟸   XM_054321025
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054176997   ⟸   XM_054321022
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054176998   ⟸   XM_054321023
- Peptide Label: isoform X3
Protein Domains
Alpha/beta hydrolase fold-3   Hormone-sensitive lipase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q05469-F1-model_v2 AlphaFold Q05469 1-1076 view protein structure

Promoters
RGD ID:7240189
Promoter ID:EPDNEW_H25839
Type:initiation region
Name:LIPE_1
Description:lipase E, hormone sensitive type
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25840  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,423,542 - 42,423,602EPDNEW
RGD ID:7240187
Promoter ID:EPDNEW_H25840
Type:initiation region
Name:LIPE_2
Description:lipase E, hormone sensitive type
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25839  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381942,427,388 - 42,427,448EPDNEW
RGD ID:6795747
Promoter ID:HG_KWN:30090
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:UC002OTS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361947,619,466 - 47,619,966 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6621 AgrOrtholog
COSMIC LIPE COSMIC
Ensembl Genes ENSG00000079435 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000244289 ENTREZGENE
  ENST00000244289.9 UniProtKB/Swiss-Prot
  ENST00000597620 ENTREZGENE
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot
GTEx ENSG00000079435 GTEx
HGNC ID HGNC:6621 ENTREZGENE
Human Proteome Map LIPE Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot
  AB_hydrolase_3 UniProtKB/Swiss-Prot
  HSL_N UniProtKB/Swiss-Prot
  Lipase_GDXG_HIS_AS UniProtKB/Swiss-Prot
  Lipase_GDXG_put_SER_AS UniProtKB/Swiss-Prot
KEGG Report hsa:3991 UniProtKB/Swiss-Prot
NCBI Gene 3991 ENTREZGENE
OMIM 151750 OMIM
PANTHER HORMONE-SENSITIVE LIPASE UniProtKB/Swiss-Prot
  TRIACYLGLYCEROL LIPASE UniProtKB/Swiss-Prot
Pfam Abhydrolase_3 UniProtKB/Swiss-Prot
  HSL_N UniProtKB/Swiss-Prot
PharmGKB PA30393 PharmGKB
PROSITE LIPASE_GDXG_HIS UniProtKB/Swiss-Prot
  LIPASE_GDXG_SER UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53474 UniProtKB/Swiss-Prot
UniProt A8K8W7 ENTREZGENE, UniProtKB/TrEMBL
  LIPS_HUMAN UniProtKB/Swiss-Prot
  M0QXB1_HUMAN UniProtKB/TrEMBL
  M0QXM5_HUMAN UniProtKB/TrEMBL
  M0QY29 ENTREZGENE, UniProtKB/TrEMBL
  M0QYP8_HUMAN UniProtKB/TrEMBL
  M0R201_HUMAN UniProtKB/TrEMBL
  M0R2G1_HUMAN UniProtKB/TrEMBL
  Q05469 ENTREZGENE
  Q3LRT2 ENTREZGENE
  Q6NSL7 ENTREZGENE
UniProt Secondary Q3LRT2 UniProtKB/Swiss-Prot
  Q6NSL7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 LIPE  lipase E, hormone sensitive type  LIPE  lipase E, hormone sensitive  Symbol and/or name change 5135510 APPROVED
2016-02-02 LIPE  lipase E, hormone sensitive  LIPE  lipase, hormone-sensitive  Symbol and/or name change 5135510 APPROVED