PLTP (phospholipid transfer protein) - Rat Genome Database

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Gene: PLTP (phospholipid transfer protein) Homo sapiens
Analyze
Symbol: PLTP
Name: phospholipid transfer protein
RGD ID: 1315460
HGNC Page HGNC:9093
Description: Enables several functions, including lipid transfer activity; lipoprotein particle binding activity; and phospholipid binding activity. Involved in high-density lipoprotein particle remodeling; lipid transport; and positive regulation of cholesterol efflux. Located in extracellular region and nucleus. Part of high-density lipoprotein particle. Biomarker of atherosclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BPI fold containing family E; BPIFE; HDLCQ9; lipid transfer protein II
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382045,898,620 - 45,912,155 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2045,898,621 - 45,912,155 (-)EnsemblGRCh38hg38GRCh38
GRCh372044,527,259 - 44,540,794 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362043,960,804 - 43,974,193 (-)NCBINCBI36Build 36hg18NCBI36
Build 342043,960,803 - 43,974,193NCBI
Celera2041,238,859 - 41,252,245 (-)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2041,269,236 - 41,282,979 (-)NCBIHuRef
CHM1_12044,430,379 - 44,443,688 (-)NCBICHM1_1
T2T-CHM13v2.02047,635,115 - 47,648,212 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R,R,R)-alpha-tocopherol  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bezafibrate  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
Cuprizon  (ISO)
cytarabine  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP)
fenofibrate  (ISO)
fenthion  (ISO)
flutamide  (ISO)
fumonisin B1  (ISO)
gentamycin  (ISO)
GW 3965  (EXP)
GW 501516  (EXP)
high-density lipoprotein cholesterol  (EXP)
indometacin  (EXP)
inulin  (ISO)
isotretinoin  (EXP)
Lasiocarpine  (ISO)
lipopolysaccharide  (ISO)
metformin  (ISO)
methidathion  (ISO)
methotrexate  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (ISO)
nimesulide  (ISO)
obeticholic acid  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorobutyric acid  (ISO)
perfluoroheptanoic acid  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
perfluoropentanoic acid  (ISO)
phenobarbital  (ISO)
phenytoin  (ISO)
phosgene  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
rotenone  (ISO)
sarin  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Elevation of plasma phospholipid transfer protein increases the risk of atherosclerosis despite lower apolipoprotein B-containing lipoproteins. Lie J, etal., J Lipid Res. 2004 May;45(5):805-11. Epub 2004 Mar 1.
3. Cell-associated and extracellular phospholipid transfer protein in human coronary atherosclerosis. O'Brien KD, etal., Circulation. 2003 Jul 22;108(3):270-4. Epub 2003 Jun 30.
4. Reverse cholesterol transport and cholesterol efflux in atherosclerosis. Ohashi R, etal., QJM. 2005 Dec;98(12):845-56. Epub 2005 Oct 28.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Serum phospholipid transfer protein mass as a possible protective factor for coronary heart diseases. Yatsuya H, etal., Circ J. 2004 Jan;68(1):11-6.
Additional References at PubMed
PMID:7490104   PMID:7654777   PMID:8125298   PMID:8132678   PMID:8554588   PMID:8619474   PMID:8647810   PMID:9110174   PMID:9132017   PMID:9469594   PMID:9624168   PMID:10191289  
PMID:10333293   PMID:11013307   PMID:11716766   PMID:11780052   PMID:11854286   PMID:11861670   PMID:12086920   PMID:12477932   PMID:12531890   PMID:12612088   PMID:12649089   PMID:12693940  
PMID:12730304   PMID:12754275   PMID:12810820   PMID:12837922   PMID:12893687   PMID:12966036   PMID:14559902   PMID:14702039   PMID:15166780   PMID:15448094   PMID:15489334   PMID:15544352  
PMID:15795933   PMID:15845396   PMID:15924430   PMID:15953936   PMID:16006562   PMID:16335952   PMID:16388083   PMID:16389649   PMID:16502470   PMID:16520487   PMID:16644710   PMID:16770077  
PMID:16862459   PMID:17260960   PMID:17272752   PMID:17303779   PMID:17495597   PMID:17553507   PMID:17761633   PMID:17877759   PMID:17900150   PMID:17917406   PMID:17921435   PMID:18287097  
PMID:18421000   PMID:18660489   PMID:19013296   PMID:19060906   PMID:19100548   PMID:19135989   PMID:19321130   PMID:19422933   PMID:19446293   PMID:19472218   PMID:19913121   PMID:19936222  
PMID:19948975   PMID:19965587   PMID:20031551   PMID:20088939   PMID:20108050   PMID:20167577   PMID:20382708   PMID:20534134   PMID:20571754   PMID:20628086   PMID:20644014   PMID:20686565  
PMID:20714154   PMID:20714348   PMID:20724654   PMID:20805453   PMID:20855565   PMID:20937151   PMID:20972250   PMID:21252068   PMID:21303701   PMID:21454568   PMID:21481395   PMID:21514421  
PMID:21515415   PMID:21736953   PMID:21782857   PMID:21873635   PMID:21973210   PMID:22034170   PMID:22090281   PMID:22286219   PMID:22492872   PMID:22916037   PMID:23128233   PMID:23313246  
PMID:23477743   PMID:23545183   PMID:24097068   PMID:24369175   PMID:24532668   PMID:25107452   PMID:25304745   PMID:25651711   PMID:25710294   PMID:25910212   PMID:26009633   PMID:26186194  
PMID:26337529   PMID:26656640   PMID:27596005   PMID:27605007   PMID:27864281   PMID:27899788   PMID:28137768   PMID:28514442   PMID:29438986   PMID:29565987   PMID:29680823   PMID:29872149  
PMID:29883800   PMID:29947103   PMID:30337619   PMID:30419596   PMID:31017809   PMID:32735728   PMID:33631671   PMID:33961781   PMID:34385888   PMID:35341274   PMID:36309086   PMID:36544145  


Genomics

Comparative Map Data
PLTP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382045,898,620 - 45,912,155 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2045,898,621 - 45,912,155 (-)EnsemblGRCh38hg38GRCh38
GRCh372044,527,259 - 44,540,794 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362043,960,804 - 43,974,193 (-)NCBINCBI36Build 36hg18NCBI36
Build 342043,960,803 - 43,974,193NCBI
Celera2041,238,859 - 41,252,245 (-)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2041,269,236 - 41,282,979 (-)NCBIHuRef
CHM1_12044,430,379 - 44,443,688 (-)NCBICHM1_1
T2T-CHM13v2.02047,635,115 - 47,648,212 (-)NCBIT2T-CHM13v2.0
Pltp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392164,681,441 - 164,699,564 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2164,681,438 - 164,699,631 (-)EnsemblGRCm39 Ensembl
GRCm382164,839,518 - 164,857,708 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2164,839,518 - 164,857,711 (-)EnsemblGRCm38mm10GRCm38
MGSCv372164,665,018 - 164,683,208 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362164,530,723 - 164,548,913 (-)NCBIMGSCv36mm8
Celera2170,777,180 - 170,795,346 (-)NCBICelera
Cytogenetic Map2H3NCBI
cM Map285.27NCBI
Pltp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83173,994,162 - 174,011,982 (-)NCBIGRCr8
mRatBN7.23153,574,825 - 153,592,647 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3153,574,825 - 153,592,647 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3157,383,266 - 157,401,093 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03165,882,236 - 165,900,067 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03163,626,011 - 163,643,842 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03161,304,469 - 161,322,289 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3161,304,469 - 161,322,289 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03167,489,818 - 167,507,696 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43155,871,842 - 155,889,959 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13155,777,877 - 155,796,306 (-)NCBI
Celera3152,186,695 - 152,199,110 (-)NCBICelera
Cytogenetic Map3q42NCBI
Pltp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544511,384,723 - 11,399,217 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544511,384,723 - 11,399,217 (+)NCBIChiLan1.0ChiLan1.0
PLTP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22151,640,109 - 51,653,712 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12051,633,217 - 51,646,759 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02042,237,434 - 42,251,189 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12043,324,608 - 43,337,999 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2043,324,609 - 43,337,999 (-)Ensemblpanpan1.1panPan2
PLTP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12433,189,098 - 33,199,935 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2433,189,099 - 33,199,854 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2432,716,116 - 32,727,034 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02433,899,412 - 33,910,331 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2433,899,419 - 33,910,247 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12433,157,883 - 33,168,800 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02433,273,014 - 33,283,934 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02433,812,190 - 33,823,120 (-)NCBIUU_Cfam_GSD_1.0
Pltp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640191,667,291 - 191,677,832 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365147,121,023 - 7,131,475 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLTP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1748,089,785 - 48,101,515 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11748,089,789 - 48,101,604 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21753,829,332 - 53,847,099 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLTP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1217,972,054 - 17,986,100 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl217,972,215 - 17,988,701 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605066,611,503 - 66,625,773 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pltp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247908,673,089 - 8,685,942 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247908,673,212 - 8,686,094 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLTP
111 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000020.11:g.45919554C>T single nucleotide variant RECLASSIFIED - PLTP POLYMORPHISM [RCV000014604] Chr20:45919554 [GRCh38]
Chr20:44548193 [GRCh37]
Chr20:20q13.12		 association|benign
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
NM_000308.4(CTSA):c.*266T>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000327371] Chr20:45898716 [GRCh38]
Chr20:44527355 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000308.4(CTSA):c.*320G>A AND Combined deficiency of sialidase single nucleotide variant Combined deficiency of sialidase AND beta galactosidase [RCV000384242] Chr20:45898770 [GRCh38]
Chr20:44527409 [GRCh37]
Chr20:20q13.12		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_006227.4(PLTP):c.557C>G (p.Pro186Arg) single nucleotide variant Inborn genetic diseases [RCV003276514] Chr20:45907748 [GRCh38]
Chr20:44536387 [GRCh37]
Chr20:20q13.12		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_006227.4(PLTP):c.631G>C (p.Glu211Gln) single nucleotide variant Inborn genetic diseases [RCV003244573] Chr20:45906342 [GRCh38]
Chr20:44534981 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1047C>T (p.Ser349=) single nucleotide variant not provided [RCV000972556] Chr20:45902500 [GRCh38]
Chr20:44531139 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.1175+6C>G single nucleotide variant not provided [RCV000972555] Chr20:45902261 [GRCh38]
Chr20:44530900 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.371C>A (p.Ser124Tyr) single nucleotide variant not provided [RCV000961701] Chr20:45909630 [GRCh38]
Chr20:44538269 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.879C>G (p.Asp293Glu) single nucleotide variant Inborn genetic diseases [RCV003268195] Chr20:45904945 [GRCh38]
Chr20:44533584 [GRCh37]
Chr20:20q13.12		 uncertain significance
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1 copy number loss Developmental and epileptic encephalopathy, 26 [RCV001801198] Chr20:42985044..48599046 [GRCh37]
Chr20:20q13.12-13.13		 pathogenic
NM_006227.4(PLTP):c.175G>A (p.Gly59Ser) single nucleotide variant not provided [RCV001893888] Chr20:45911177 [GRCh38]
Chr20:44539816 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1263_1264delinsCA (p.Val422Met) indel not provided [RCV001985181] Chr20:45899640..45899641 [GRCh38]
Chr20:44528279..44528280 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.490G>T (p.Val164Leu) single nucleotide variant not provided [RCV002042701] Chr20:45907900 [GRCh38]
Chr20:44536539 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1077del (p.Gln359fs) deletion not provided [RCV001983320] Chr20:45902470 [GRCh38]
Chr20:44531109 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.55T>C (p.Phe19Leu) single nucleotide variant not provided [RCV002017562] Chr20:45911398 [GRCh38]
Chr20:44540037 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1283-7C>A single nucleotide variant PLTP-related condition [RCV003948772]|not provided [RCV001888072] Chr20:45899545 [GRCh38]
Chr20:44528184 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_006227.4(PLTP):c.797T>A (p.Val266Glu) single nucleotide variant not provided [RCV002036510] Chr20:45905027 [GRCh38]
Chr20:44533666 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.463G>A (p.Ala155Thr) single nucleotide variant Inborn genetic diseases [RCV002561413]|not provided [RCV001959774] Chr20:45909538 [GRCh38]
Chr20:44538177 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1433C>G (p.Ala478Gly) single nucleotide variant not provided [RCV001961695] Chr20:45898990 [GRCh38]
Chr20:44527629 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1115G>A (p.Arg372His) single nucleotide variant Inborn genetic diseases [RCV002560596]|not provided [RCV001936259] Chr20:45902327 [GRCh38]
Chr20:44530966 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.578C>T (p.Thr193Met) single nucleotide variant not provided [RCV002011714] Chr20:45907727 [GRCh38]
Chr20:44536366 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.616C>T (p.Arg206Cys) single nucleotide variant not provided [RCV001990853] Chr20:45906357 [GRCh38]
Chr20:44534996 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.537C>T (p.Leu179=) single nucleotide variant not provided [RCV001954084] Chr20:45907853 [GRCh38]
Chr20:44536492 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.680C>G (p.Thr227Ser) single nucleotide variant not provided [RCV001961425] Chr20:45906293 [GRCh38]
Chr20:44534932 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.397C>T (p.Arg133Trp) single nucleotide variant not provided [RCV001982104] Chr20:45909604 [GRCh38]
Chr20:44538243 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.942+12C>T single nucleotide variant not provided [RCV002033806] Chr20:45904788 [GRCh38]
Chr20:44533427 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_006227.4(PLTP):c.395C>G (p.Ser132Cys) single nucleotide variant not provided [RCV001940548] Chr20:45909606 [GRCh38]
Chr20:44538245 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1218+20T>G single nucleotide variant not provided [RCV002192504] Chr20:45899816 [GRCh38]
Chr20:44528455 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.398G>A (p.Arg133Gln) single nucleotide variant not provided [RCV002129304] Chr20:45909603 [GRCh38]
Chr20:44538242 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1344G>C (p.Val448=) single nucleotide variant not provided [RCV002128717] Chr20:45899477 [GRCh38]
Chr20:44528116 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.1138C>T (p.Arg380Trp) single nucleotide variant not provided [RCV002169348] Chr20:45902304 [GRCh38]
Chr20:44530943 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.845G>A (p.Arg282Gln) single nucleotide variant not provided [RCV002210307] Chr20:45904979 [GRCh38]
Chr20:44533618 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.561C>T (p.Val187=) single nucleotide variant not provided [RCV002132335] Chr20:45907744 [GRCh38]
Chr20:44536383 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.47A>G (p.His16Arg) single nucleotide variant not provided [RCV002080119] Chr20:45911406 [GRCh38]
Chr20:44540045 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1219-8C>T single nucleotide variant not provided [RCV002130750] Chr20:45899693 [GRCh38]
Chr20:44528332 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.881A>G (p.Lys294Arg) single nucleotide variant not provided [RCV002131658] Chr20:45904943 [GRCh38]
Chr20:44533582 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.613+17T>C single nucleotide variant not provided [RCV002201294] Chr20:45907675 [GRCh38]
Chr20:44536314 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.369G>A (p.Val123=) single nucleotide variant not provided [RCV002162876] Chr20:45909632 [GRCh38]
Chr20:44538271 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.1137C>T (p.Leu379=) single nucleotide variant not provided [RCV002135630] Chr20:45902305 [GRCh38]
Chr20:44530944 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1446G>A (p.Ala482=) single nucleotide variant not provided [RCV002220998] Chr20:45898977 [GRCh38]
Chr20:44527616 [GRCh37]
Chr20:20q13.12		 likely benign
NC_000020.10:g.(?_42223339)_(44638757_?)del deletion Combined immunodeficiency due to STK4 deficiency [RCV003109483] Chr20:42223339..44638757 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_006227.4(PLTP):c.1225C>A (p.Pro409Thr) single nucleotide variant Inborn genetic diseases [RCV003276010] Chr20:45899679 [GRCh38]
Chr20:44528318 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.968T>C (p.Leu323Ser) single nucleotide variant not provided [RCV002970928] Chr20:45902579 [GRCh38]
Chr20:44531218 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.850G>A (p.Gly284Arg) single nucleotide variant Inborn genetic diseases [RCV002773695] Chr20:45904974 [GRCh38]
Chr20:44533613 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.529C>T (p.Arg177Cys) single nucleotide variant Inborn genetic diseases [RCV003357993]|not provided [RCV002755957] Chr20:45907861 [GRCh38]
Chr20:44536500 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.752G>A (p.Arg251Gln) single nucleotide variant Inborn genetic diseases [RCV002818238] Chr20:45905072 [GRCh38]
Chr20:44533711 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.983G>A (p.Arg328Gln) single nucleotide variant not provided [RCV002970927] Chr20:45902564 [GRCh38]
Chr20:44531203 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.549+20G>A single nucleotide variant not provided [RCV002776126] Chr20:45907821 [GRCh38]
Chr20:44536460 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.1059C>T (p.Ala353=) single nucleotide variant not provided [RCV002685376] Chr20:45902488 [GRCh38]
Chr20:44531127 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.832G>C (p.Glu278Gln) single nucleotide variant Inborn genetic diseases [RCV002971691]|not provided [RCV002971690] Chr20:45904992 [GRCh38]
Chr20:44533631 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1334T>G (p.Val445Gly) single nucleotide variant Inborn genetic diseases [RCV002754124] Chr20:45899487 [GRCh38]
Chr20:44528126 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1283A>C (p.Glu428Ala) single nucleotide variant Inborn genetic diseases [RCV002905191] Chr20:45899538 [GRCh38]
Chr20:44528177 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.732G>A (p.Arg244=) single nucleotide variant not provided [RCV002927880] Chr20:45905092 [GRCh38]
Chr20:44533731 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.630C>T (p.Asp210=) single nucleotide variant not provided [RCV002592255] Chr20:45906343 [GRCh38]
Chr20:44534982 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.611C>G (p.Pro204Arg) single nucleotide variant not provided [RCV002639162] Chr20:45907694 [GRCh38]
Chr20:44536333 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.439C>G (p.Gln147Glu) single nucleotide variant Inborn genetic diseases [RCV002910576] Chr20:45909562 [GRCh38]
Chr20:44538201 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.329+20A>C single nucleotide variant not provided [RCV002591285] Chr20:45909922 [GRCh38]
Chr20:44538561 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.395C>T (p.Ser132Phe) single nucleotide variant Inborn genetic diseases [RCV002743059] Chr20:45909606 [GRCh38]
Chr20:44538245 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.329+1G>T single nucleotide variant not provided [RCV002576392] Chr20:45909941 [GRCh38]
Chr20:44538580 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.764C>T (p.Pro255Leu) single nucleotide variant Inborn genetic diseases [RCV002915799] Chr20:45905060 [GRCh38]
Chr20:44533699 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.145A>G (p.Ile49Val) single nucleotide variant Inborn genetic diseases [RCV002850740] Chr20:45911207 [GRCh38]
Chr20:44539846 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1144A>G (p.Lys382Glu) single nucleotide variant Inborn genetic diseases [RCV002892952] Chr20:45902298 [GRCh38]
Chr20:44530937 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1307T>A (p.Ile436Asn) single nucleotide variant Inborn genetic diseases [RCV002709919] Chr20:45899514 [GRCh38]
Chr20:44528153 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.464C>T (p.Ala155Val) single nucleotide variant Inborn genetic diseases [RCV002764714] Chr20:45909537 [GRCh38]
Chr20:44538176 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1114C>T (p.Arg372Cys) single nucleotide variant not provided [RCV002625116] Chr20:45902328 [GRCh38]
Chr20:44530967 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1264G>A (p.Val422Met) single nucleotide variant Inborn genetic diseases [RCV002827445] Chr20:45899640 [GRCh38]
Chr20:44528279 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1158G>A (p.Thr386=) single nucleotide variant not provided [RCV002954228] Chr20:45902284 [GRCh38]
Chr20:44530923 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1458C>T (p.Pro486=) single nucleotide variant not provided [RCV003005918] Chr20:45898965 [GRCh38]
Chr20:44527604 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1419GAA[1] (p.Lys474del) microsatellite not provided [RCV002626757] Chr20:45898999..45899001 [GRCh38]
Chr20:44527638..44527640 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.355T>G (p.Ser119Ala) single nucleotide variant not provided [RCV002766481] Chr20:45909646 [GRCh38]
Chr20:44538285 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1259T>C (p.Ile420Thr) single nucleotide variant not provided [RCV003061851] Chr20:45899645 [GRCh38]
Chr20:44528284 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1175+10C>T single nucleotide variant not provided [RCV003087297] Chr20:45902257 [GRCh38]
Chr20:44530896 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1139G>A (p.Arg380Gln) single nucleotide variant not provided [RCV002579043] Chr20:45902303 [GRCh38]
Chr20:44530942 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.305G>A (p.Arg102Gln) single nucleotide variant Inborn genetic diseases [RCV002675388] Chr20:45909966 [GRCh38]
Chr20:44538605 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1350G>A (p.Thr450=) single nucleotide variant not provided [RCV002675882] Chr20:45899471 [GRCh38]
Chr20:44528110 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.941T>C (p.Leu314Pro) single nucleotide variant Inborn genetic diseases [RCV002941060] Chr20:45904801 [GRCh38]
Chr20:44533440 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1354C>T (p.His452Tyr) single nucleotide variant not provided [RCV002963441] Chr20:45899467 [GRCh38]
Chr20:44528106 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.76G>C (p.Val26Leu) single nucleotide variant not provided [RCV002633159] Chr20:45911377 [GRCh38]
Chr20:44540016 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1173C>T (p.Arg391=) single nucleotide variant not provided [RCV002606952] Chr20:45902269 [GRCh38]
Chr20:44530908 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1176G>C (p.Arg392Ser) single nucleotide variant not provided [RCV002653291] Chr20:45899878 [GRCh38]
Chr20:44528517 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1107+16T>A single nucleotide variant not provided [RCV002604223] Chr20:45902424 [GRCh38]
Chr20:44531063 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1343T>C (p.Val448Ala) single nucleotide variant not provided [RCV002606287] Chr20:45899478 [GRCh38]
Chr20:44528117 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1034C>T (p.Ser345Phe) single nucleotide variant Inborn genetic diseases [RCV003191215]|not provided [RCV003883967] Chr20:45902513 [GRCh38]
Chr20:44531152 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.750C>G (p.Asn250Lys) single nucleotide variant Inborn genetic diseases [RCV003195789] Chr20:45905074 [GRCh38]
Chr20:44533713 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.299G>A (p.Arg100His) single nucleotide variant Inborn genetic diseases [RCV003194428] Chr20:45909972 [GRCh38]
Chr20:44538611 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1171C>T (p.Arg391Cys) single nucleotide variant Inborn genetic diseases [RCV003261925] Chr20:45902271 [GRCh38]
Chr20:44530910 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1218+5G>T single nucleotide variant not provided [RCV003570643] Chr20:45899831 [GRCh38]
Chr20:44528470 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.725C>A (p.Thr242Asn) single nucleotide variant not provided [RCV003874921] Chr20:45905099 [GRCh38]
Chr20:44533738 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.53A>T (p.Glu18Val) single nucleotide variant not provided [RCV003880187] Chr20:45911400 [GRCh38]
Chr20:44540039 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1214T>A (p.Leu405Gln) single nucleotide variant not provided [RCV003689881] Chr20:45899840 [GRCh38]
Chr20:44528479 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.848C>T (p.Ala283Val) single nucleotide variant not provided [RCV003880094] Chr20:45904976 [GRCh38]
Chr20:44533615 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1219-18C>T single nucleotide variant not provided [RCV003882149] Chr20:45899703 [GRCh38]
Chr20:44528342 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.176G>A (p.Gly59Asp) single nucleotide variant not provided [RCV003829941] Chr20:45911176 [GRCh38]
Chr20:44539815 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.195C>A (p.Ile65=) single nucleotide variant not provided [RCV003575372] Chr20:45911157 [GRCh38]
Chr20:44539796 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.911G>A (p.Arg304Lys) single nucleotide variant not provided [RCV003546167] Chr20:45904831 [GRCh38]
Chr20:44533470 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.535C>T (p.Leu179Phe) single nucleotide variant not provided [RCV003579845] Chr20:45907855 [GRCh38]
Chr20:44536494 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1244A>T (p.Lys415Met) single nucleotide variant not provided [RCV003833106] Chr20:45899660 [GRCh38]
Chr20:44528299 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.465G>A (p.Ala155=) single nucleotide variant PLTP-related condition [RCV003946740]|not provided [RCV003557880] Chr20:45909536 [GRCh38]
Chr20:44538175 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.200+3A>C single nucleotide variant not provided [RCV003561636] Chr20:45911149 [GRCh38]
Chr20:44539788 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1219-4C>G single nucleotide variant not provided [RCV003559099] Chr20:45899689 [GRCh38]
Chr20:44528328 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.550-17del deletion not provided [RCV003701809] Chr20:45907772 [GRCh38]
Chr20:44536411 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.390G>A (p.Glu130=) single nucleotide variant not provided [RCV003729288] Chr20:45909611 [GRCh38]
Chr20:44538250 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.613+14G>A single nucleotide variant not provided [RCV003820620] Chr20:45907678 [GRCh38]
Chr20:44536317 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.330-20A>C single nucleotide variant not provided [RCV003872483] Chr20:45909691 [GRCh38]
Chr20:44538330 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.405C>T (p.Pro135=) single nucleotide variant not provided [RCV003564934] Chr20:45909596 [GRCh38]
Chr20:44538235 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.879C>T (p.Asp293=) single nucleotide variant not provided [RCV003719820] Chr20:45904945 [GRCh38]
Chr20:44533584 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1107+5G>A single nucleotide variant not provided [RCV003871311] Chr20:45902435 [GRCh38]
Chr20:44531074 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.579G>A (p.Thr193=) single nucleotide variant not provided [RCV003846945] Chr20:45907726 [GRCh38]
Chr20:44536365 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.462C>T (p.His154=) single nucleotide variant not provided [RCV003845077] Chr20:45909539 [GRCh38]
Chr20:44538178 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1176-4G>A single nucleotide variant not provided [RCV003733188] Chr20:45899882 [GRCh38]
Chr20:44528521 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1031T>G (p.Ile344Ser) single nucleotide variant not provided [RCV003870039] Chr20:45902516 [GRCh38]
Chr20:44531155 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.891C>T (p.His297=) single nucleotide variant not provided [RCV003704361] Chr20:45904851 [GRCh38]
Chr20:44533490 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.1016C>T (p.Pro339Leu) single nucleotide variant not provided [RCV003844554] Chr20:45902531 [GRCh38]
Chr20:44531170 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.288C>T (p.Ser96=) single nucleotide variant not provided [RCV003567326] Chr20:45909983 [GRCh38]
Chr20:44538622 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.907C>T (p.Leu303=) single nucleotide variant not provided [RCV003728571] Chr20:45904835 [GRCh38]
Chr20:44533474 [GRCh37]
Chr20:20q13.12		 benign
NM_006227.4(PLTP):c.1295G>A (p.Arg432His) single nucleotide variant not provided [RCV003730040] Chr20:45899526 [GRCh38]
Chr20:44528165 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_006227.4(PLTP):c.1360-18C>G single nucleotide variant not provided [RCV003858683] Chr20:45899081 [GRCh38]
Chr20:44527720 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.1107+16T>G single nucleotide variant not provided [RCV003820171] Chr20:45902424 [GRCh38]
Chr20:44531063 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.987C>T (p.Val329=) single nucleotide variant PLTP-related condition [RCV003951655] Chr20:45902560 [GRCh38]
Chr20:44531199 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.132A>G (p.Gln44=) single nucleotide variant PLTP-related condition [RCV003952133] Chr20:45911220 [GRCh38]
Chr20:44539859 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.849G>A (p.Ala283=) single nucleotide variant PLTP-related condition [RCV003956677] Chr20:45904975 [GRCh38]
Chr20:44533614 [GRCh37]
Chr20:20q13.12		 likely benign
NM_006227.4(PLTP):c.225G>A (p.Leu75=) single nucleotide variant PLTP-related condition [RCV003961488] Chr20:45910046 [GRCh38]
Chr20:44538685 [GRCh37]
Chr20:20q13.12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1294
Count of miRNA genes:242
Interacting mature miRNAs:250
Transcripts:ENST00000354050, ENST00000372420, ENST00000372431, ENST00000420868, ENST00000477313, ENST00000542937
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH66081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,527,504 - 44,527,647UniSTSGRCh37
Build 362043,960,911 - 43,961,054RGDNCBI36
Celera2041,238,966 - 41,239,109RGD
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map20q13.1UniSTS
HuRef2041,269,481 - 41,269,624UniSTS
GeneMap99-GB4 RH Map20291.46UniSTS
D20S1030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,527,257 - 44,527,359UniSTSGRCh37
Build 362043,960,664 - 43,960,766RGDNCBI36
Celera2041,238,719 - 41,238,821RGD
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map20q13.1UniSTS
HuRef2041,269,234 - 41,269,336UniSTS
GeneMap99-GB4 RH Map20261.52UniSTS
GeneMap99-GB4 RH Map20257.24UniSTS
Whitehead-RH Map20301.4UniSTS
Whitehead-YAC Contig Map20 UniSTS
NCBI RH Map20487.3UniSTS
STS-M22960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,527,156 - 44,527,302UniSTSGRCh37
Build 362043,960,563 - 43,960,709RGDNCBI36
Celera2041,238,618 - 41,238,764RGD
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map20q13.1UniSTS
HuRef2041,269,133 - 41,269,279UniSTS
GeneMap99-GB4 RH Map20257.24UniSTS
Cda16d10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,527,277 - 44,527,416UniSTSGRCh37
Build 362043,960,684 - 43,960,823RGDNCBI36
Celera2041,238,739 - 41,238,878RGD
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map20q13.12UniSTS
HuRef2041,269,254 - 41,269,393UniSTS
GeneMap99-GB4 RH Map20257.44UniSTS
NCBI RH Map20444.9UniSTS
AL022251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372044,541,824 - 44,541,943UniSTSGRCh37
Build 362043,975,231 - 43,975,350RGDNCBI36
Celera2041,253,284 - 41,253,403RGD
Cytogenetic Map20q13.12UniSTS
HuRef2041,283,800 - 41,283,919UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 7 1 11 4 2 3 27 40 1
Medium 2358 2286 1515 431 1072 268 3879 1678 3653 357 1392 1477 173 1 1164 2332 5 2
Low 53 691 206 189 850 193 467 515 75 53 33 111 1 456
Below cutoff 20 7 4 3 28 3 4 6 8 22

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB076694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY509570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L26232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U38950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354050   ⟹   ENSP00000335290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,898,621 - 45,912,152 (-)Ensembl
RefSeq Acc Id: ENST00000372420   ⟹   ENSP00000361497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,898,760 - 45,910,937 (-)Ensembl
RefSeq Acc Id: ENST00000372431   ⟹   ENSP00000361508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,898,622 - 45,912,155 (-)Ensembl
RefSeq Acc Id: ENST00000420868   ⟹   ENSP00000411671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,898,806 - 45,912,155 (-)Ensembl
RefSeq Acc Id: ENST00000477313   ⟹   ENSP00000417138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2045,898,763 - 45,912,047 (-)Ensembl
RefSeq Acc Id: NM_001242920   ⟹   NP_001229849
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,898,622 - 45,912,155 (-)NCBI
GRCh372044,527,259 - 44,541,003 (-)NCBI
HuRef2041,269,236 - 41,282,979 (-)ENTREZGENE
CHM1_12044,430,379 - 44,443,688 (-)NCBI
T2T-CHM13v2.02047,635,117 - 47,648,212 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001242921   ⟹   NP_001229850
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,898,620 - 45,910,994 (-)NCBI
GRCh372044,527,259 - 44,541,003 (-)ENTREZGENE
HuRef2041,269,236 - 41,282,979 (-)ENTREZGENE
CHM1_12044,430,379 - 44,442,317 (-)NCBI
T2T-CHM13v2.02047,635,115 - 47,647,051 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006227   ⟹   NP_006218
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,898,622 - 45,912,155 (-)NCBI
GRCh372044,527,259 - 44,541,003 (-)ENTREZGENE
Build 362043,960,804 - 43,974,193 (-)NCBI Archive
HuRef2041,269,236 - 41,282,979 (-)ENTREZGENE
CHM1_12044,430,379 - 44,443,688 (-)NCBI
T2T-CHM13v2.02047,635,117 - 47,648,212 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182676   ⟹   NP_872617
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,898,622 - 45,912,155 (-)NCBI
GRCh372044,527,259 - 44,541,003 (-)ENTREZGENE
Build 362043,960,804 - 43,974,193 (-)NCBI Archive
HuRef2041,269,236 - 41,282,979 (-)ENTREZGENE
CHM1_12044,430,379 - 44,443,688 (-)NCBI
T2T-CHM13v2.02047,635,117 - 47,648,212 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054323531   ⟹   XP_054179506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02047,635,115 - 47,646,992 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001229849 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229850 (Get FASTA)   NCBI Sequence Viewer  
  NP_006218 (Get FASTA)   NCBI Sequence Viewer  
  NP_872617 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179506 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36443 (Get FASTA)   NCBI Sequence Viewer  
  AAH05045 (Get FASTA)   NCBI Sequence Viewer  
  AAH19847 (Get FASTA)   NCBI Sequence Viewer  
  AAH19898 (Get FASTA)   NCBI Sequence Viewer  
  AAR87775 (Get FASTA)   NCBI Sequence Viewer  
  BAB79630 (Get FASTA)   NCBI Sequence Viewer  
  BAD96410 (Get FASTA)   NCBI Sequence Viewer  
  BAF82060 (Get FASTA)   NCBI Sequence Viewer  
  BAG53407 (Get FASTA)   NCBI Sequence Viewer  
  BAG56696 (Get FASTA)   NCBI Sequence Viewer  
  BAG61226 (Get FASTA)   NCBI Sequence Viewer  
  EAW75781 (Get FASTA)   NCBI Sequence Viewer  
  EAW75782 (Get FASTA)   NCBI Sequence Viewer  
  EAW75783 (Get FASTA)   NCBI Sequence Viewer  
  EAW75784 (Get FASTA)   NCBI Sequence Viewer  
  EAW75785 (Get FASTA)   NCBI Sequence Viewer  
  EAW75786 (Get FASTA)   NCBI Sequence Viewer  
  EAW75787 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000335290
  ENSP00000335290.4
  ENSP00000361497
  ENSP00000361497.1
  ENSP00000361508
  ENSP00000361508.3
  ENSP00000411671
  ENSP00000411671.2
  ENSP00000417138.1
GenBank Protein P55058 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001229849   ⟸   NM_001242920
- Peptide Label: isoform c precursor
- UniProtKB: Q53H91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_872617   ⟸   NM_182676
- Peptide Label: isoform b precursor
- UniProtKB: Q53H91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006218   ⟸   NM_006227
- Peptide Label: isoform a precursor
- UniProtKB: Q9BR07 (UniProtKB/Swiss-Prot),   Q8WTT1 (UniProtKB/Swiss-Prot),   E7EV16 (UniProtKB/Swiss-Prot),   E1P5N8 (UniProtKB/Swiss-Prot),   B4DRB4 (UniProtKB/Swiss-Prot),   B4DDD5 (UniProtKB/Swiss-Prot),   A8K006 (UniProtKB/Swiss-Prot),   Q9BSH8 (UniProtKB/Swiss-Prot),   P55058 (UniProtKB/Swiss-Prot),   Q53H91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229850   ⟸   NM_001242921
- Peptide Label: isoform d
- UniProtKB: Q53H91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000417138   ⟸   ENST00000477313
RefSeq Acc Id: ENSP00000361497   ⟸   ENST00000372420
RefSeq Acc Id: ENSP00000361508   ⟸   ENST00000372431
RefSeq Acc Id: ENSP00000335290   ⟸   ENST00000354050
RefSeq Acc Id: ENSP00000411671   ⟸   ENST00000420868
RefSeq Acc Id: XP_054179506   ⟸   XM_054323531
- Peptide Label: isoform X1
Protein Domains
Lipid-binding serum glycoprotein C-terminal   Lipid-binding serum glycoprotein N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55058-F1-model_v2 AlphaFold P55058 1-493 view protein structure

Promoters
RGD ID:6812073
Promoter ID:HG_ACW:49425
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:PLTP.JAPR07,   PLTP.NAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,971,771 - 43,972,271 (-)MPROMDB
RGD ID:6798903
Promoter ID:HG_KWN:39640
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354050,   ENST00000372431,   UC002XQL.1,   UC002XQM.1,   UC002XQP.1,   UC002XQQ.1,   UC010GHJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,973,086 - 43,974,157 (-)MPROMDB
RGD ID:6852822
Promoter ID:EP74226
Type:initiation region
Name:HS_PLTP
Description:Phospholipid transfer protein.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 362043,974,191 - 43,974,251EPD
RGD ID:13207133
Promoter ID:EPDNEW_H27147
Type:initiation region
Name:PLTP_1
Description:phospholipid transfer protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382045,912,155 - 45,912,215EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9093 AgrOrtholog
COSMIC PLTP COSMIC
Ensembl Genes ENSG00000100979 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000354050 ENTREZGENE
  ENST00000354050.8 UniProtKB/Swiss-Prot
  ENST00000372420 ENTREZGENE
  ENST00000372420.5 UniProtKB/Swiss-Prot
  ENST00000372431 ENTREZGENE
  ENST00000372431.8 UniProtKB/Swiss-Prot
  ENST00000420868 ENTREZGENE
  ENST00000420868.2 UniProtKB/Swiss-Prot
  ENST00000477313.5 UniProtKB/Swiss-Prot
GTEx ENSG00000100979 GTEx
HGNC ID HGNC:9093 ENTREZGENE
Human Proteome Map PLTP Human Proteome Map
InterPro Bactericidal_perm-incr_a/b_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BPI/LBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BPI/LBP/Plunc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipid-bd_serum_glycop_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipid-bd_serum_glycop_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipid-bd_serum_glycop_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5360 UniProtKB/Swiss-Prot
NCBI Gene 5360 ENTREZGENE
OMIM 172425 OMIM
PANTHER PTHR10504 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10504:SF16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LBP_BPI_CETP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LBP_BPI_CETP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA273 PharmGKB
PIRSF Lipid_binding_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LBP_BPI_CETP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BPI1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BPI2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55394 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K006 ENTREZGENE
  B3KUE5_HUMAN UniProtKB/TrEMBL
  B4DDD5 ENTREZGENE
  B4DRB4 ENTREZGENE
  E1P5N8 ENTREZGENE
  E7EV16 ENTREZGENE
  P55058 ENTREZGENE, UniProtKB/Swiss-Prot
  Q53H91 ENTREZGENE, UniProtKB/TrEMBL
  Q8WTT1 ENTREZGENE
  Q9BR07 ENTREZGENE
  Q9BSH8 ENTREZGENE
UniProt Secondary A8K006 UniProtKB/Swiss-Prot
  B4DDD5 UniProtKB/Swiss-Prot
  B4DRB4 UniProtKB/Swiss-Prot
  E1P5N8 UniProtKB/Swiss-Prot
  E7EV16 UniProtKB/Swiss-Prot
  Q8WTT1 UniProtKB/Swiss-Prot
  Q9BR07 UniProtKB/Swiss-Prot
  Q9BSH8 UniProtKB/Swiss-Prot