NPC1L1 (NPC1 like intracellular cholesterol transporter 1) - Rat Genome Database

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Gene: NPC1L1 (NPC1 like intracellular cholesterol transporter 1) Homo sapiens
Analyze
Symbol: NPC1L1
Name: NPC1 like intracellular cholesterol transporter 1
RGD ID: 1345181
HGNC Page HGNC:7898
Description: Enables several functions, including cholesterol binding activity; myosin V binding activity; and protein homodimerization activity. Involved in several processes, including cellular response to sterol depletion; intestinal cholesterol absorption; and vitamin E metabolic process. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LDLCQ7; Niemann-Pick C1-like protein 1; NPC1 (Niemann-Pick disease, type C1, gene)-like 1; NPC1 like 1; NPC1-like 1; NPC1-like intracellular cholesterol transporter 1; NPC11L1; SLC65A2
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
GRCh38744,512,535 - 44,541,330 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl744,512,535 - 44,541,330 (-)EnsemblGRCh38hg38GRCh38
GRCh37744,552,134 - 44,580,929 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,518,659 - 44,547,439 (-)NCBINCBI36Build 36hg18NCBI36
Build 34744,325,376 - 44,354,154NCBI
Celera744,651,139 - 44,679,899 (-)NCBICelera
Cytogenetic Map7p13NCBI
HuRef744,436,243 - 44,465,023 (-)NCBIHuRef
CHM1_1744,556,489 - 44,585,261 (-)NCBICHM1_1
T2T-CHM13v2.0744,672,255 - 44,701,030 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia. Davies JP, etal., J Biol Chem. 2005 Apr 1;280(13):12710-20. Epub 2005 Jan 25.
2. Deficiency of Niemann-Pick C1 Like 1 prevents atherosclerosis in ApoE-/- mice. Davis HR Jr, etal., Arterioscler Thromb Vasc Biol. 2007 Apr;27(4):841-9. Epub 2007 Jan 11.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Genes that affect cholesterol synthesis, cholesterol absorption, and chylomicron assembly: the relationship between the liver and intestine in control and streptozotosin diabetic rats. Lally S, etal., Metabolism. 2007 Mar;56(3):430-8.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10783261   PMID:12477932   PMID:12690205   PMID:14976318   PMID:15604518   PMID:15679830   PMID:15790807   PMID:15928087   PMID:16098225   PMID:16297596   PMID:16449388   PMID:16518588  
PMID:16829661   PMID:17005902   PMID:17102949   PMID:17140581   PMID:17571164   PMID:17662536   PMID:18031309   PMID:18080173   PMID:18373109   PMID:18403720   PMID:18413323   PMID:18522826  
PMID:18522832   PMID:18641187   PMID:18641716   PMID:18783541   PMID:18850127   PMID:19071091   PMID:19265861   PMID:19325169   PMID:19443194   PMID:19542231   PMID:19747803   PMID:19752398  
PMID:19823104   PMID:19913121   PMID:20144195   PMID:20222991   PMID:20379057   PMID:20460578   PMID:20628086   PMID:20679960   PMID:20686565   PMID:20855565   PMID:20953676   PMID:21187433  
PMID:21189420   PMID:21525977   PMID:21602275   PMID:21683156   PMID:21873635   PMID:22095670   PMID:22579005   PMID:22646906   PMID:23139223   PMID:23415434   PMID:24097068   PMID:24336247  
PMID:24554660   PMID:24639526   PMID:24861377   PMID:24891511   PMID:24904062   PMID:24974575   PMID:25056759   PMID:25331956   PMID:25390462   PMID:25463095   PMID:25589339   PMID:25696002  
PMID:25739390   PMID:25770315   PMID:25841872   PMID:26253792   PMID:26492642   PMID:26761771   PMID:26800364   PMID:27075173   PMID:27650930   PMID:27697530   PMID:27701660   PMID:27769799  
PMID:28259659   PMID:28315682   PMID:29106532   PMID:29466845   PMID:29601818   PMID:29764733   PMID:29880681   PMID:29980051   PMID:30994973   PMID:31311377   PMID:31417158   PMID:31432115  
PMID:31883528   PMID:32410728   PMID:33167740   PMID:33188743   PMID:33760662   PMID:34198853   PMID:34407950   PMID:34511128   PMID:36583755   PMID:37355634   PMID:37704626   PMID:38233830  
PMID:38280151   PMID:38713618  


Genomics

Comparative Map Data
NPC1L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38744,512,535 - 44,541,330 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl744,512,535 - 44,541,330 (-)EnsemblGRCh38hg38GRCh38
GRCh37744,552,134 - 44,580,929 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36744,518,659 - 44,547,439 (-)NCBINCBI36Build 36hg18NCBI36
Build 34744,325,376 - 44,354,154NCBI
Celera744,651,139 - 44,679,899 (-)NCBICelera
Cytogenetic Map7p13NCBI
HuRef744,436,243 - 44,465,023 (-)NCBIHuRef
CHM1_1744,556,489 - 44,585,261 (-)NCBICHM1_1
T2T-CHM13v2.0744,672,255 - 44,701,030 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)NCBI
Npc1l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39116,161,011 - 6,180,245 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl116,161,013 - 6,180,143 (-)EnsemblGRCm39 Ensembl
GRCm38116,211,011 - 6,230,245 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl116,211,013 - 6,230,143 (-)EnsemblGRCm38mm10GRCm38
MGSCv37116,111,014 - 6,130,248 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36116,111,461 - 6,130,126 (-)NCBIMGSCv36mm8
Celera116,693,602 - 6,712,842 (-)NCBICelera
Cytogenetic Map11A1NCBI
cM Map113.93NCBI
Npc1l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81485,285,387 - 85,305,050 (-)NCBIGRCr8
mRatBN7.21481,071,448 - 81,091,113 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1481,071,451 - 81,091,113 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1485,472,534 - 85,492,247 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01486,712,619 - 86,732,332 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01483,161,944 - 83,181,659 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01486,345,946 - 86,560,694 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1486,345,953 - 86,560,694 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01487,307,372 - 87,319,081 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01487,516,291 - 87,523,225 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1479,954,434 - 79,974,086 (-)NCBICelera
Cytogenetic Map14q21NCBI
Npc1l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554567,528,423 - 7,547,720 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554567,528,452 - 7,547,714 (+)NCBIChiLan1.0ChiLan1.0
NPC1L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2649,424,993 - 49,453,745 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1797,749,732 - 97,778,483 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0745,227,289 - 45,256,094 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1745,296,365 - 45,324,692 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl745,297,271 - 45,324,692 (-)Ensemblpanpan1.1panPan2
NPC1L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha162,311,494 - 2,327,591 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01614,518,743 - 14,550,434 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1614,534,022 - 14,550,425 (+)EnsemblROS_Cfam_1.0 Ensembl
UNSW_CanFamBas_1.01614,165,465 - 14,181,751 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01614,146,247 - 14,162,328 (+)NCBIUU_Cfam_GSD_1.0
Npc1l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118100,222,063 - 100,240,594 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647819,434,557 - 19,452,248 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647819,434,557 - 19,452,245 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NPC1L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1850,726,922 - 50,757,649 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11850,726,854 - 50,757,676 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21855,630,239 - 55,657,272 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NPC1L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12114,129,413 - 14,163,916 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2114,130,767 - 14,163,907 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660628,377,157 - 8,405,655 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Npc1l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247407,590,046 - 7,609,420 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247407,590,041 - 7,609,574 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NPC1L1
127 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001101648.2(NPC1L1):c.163G>T (p.Val55Leu) single nucleotide variant Ezetimibe response [RCV000002738] Chr7:44540234 [GRCh38]
Chr7:44579833 [GRCh37]
Chr7:7p13		 drug response
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn) single nucleotide variant Ezetimibe response [RCV000002739]|not provided [RCV004706443]|not specified [RCV000455151] Chr7:44516100 [GRCh38]
Chr7:44555699 [GRCh37]
Chr7:7p13		 likely benign|drug response
GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1 copy number loss See cases [RCV000052316] Chr7:44193369..46558381 [GRCh38]
Chr7:44232968..46597979 [GRCh37]
Chr7:44199493..46564504 [NCBI36]
Chr7:7p13-12.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1 copy number loss See cases [RCV000053132] Chr7:39814159..45749735 [GRCh38]
Chr7:39853758..45789334 [GRCh37]
Chr7:39820283..45755859 [NCBI36]
Chr7:7p14.1-12.3		 pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21		 pathogenic
NM_013389.2(NPC1L1):c.2682C>T (p.Phe894=) single nucleotide variant Malignant melanoma [RCV000067882] Chr7:44522198 [GRCh38]
Chr7:44561797 [GRCh37]
Chr7:44528322 [NCBI36]
Chr7:7p13		 not provided
NM_013389.2(NPC1L1):c.733G>A (p.Glu245Lys) single nucleotide variant Malignant melanoma [RCV000067883] Chr7:44539664 [GRCh38]
Chr7:44579263 [GRCh37]
Chr7:44545788 [NCBI36]
Chr7:7p13		 not provided
NM_013389.2(NPC1L1):c.3008C>T (p.Pro1003Leu) single nucleotide variant Malignant melanoma [RCV000061654] Chr7:44521064 [GRCh38]
Chr7:44560663 [GRCh37]
Chr7:44527188 [NCBI36]
Chr7:7p13		 not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p13(chr7:44287818-44581121)x3 copy number gain See cases [RCV000135847] Chr7:44287818..44581121 [GRCh38]
Chr7:44327417..44620720 [GRCh37]
Chr7:44293942..44587245 [NCBI36]
Chr7:7p13		 benign
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2		 pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1		 pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3		 pathogenic
GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1 copy number loss See cases [RCV000137305] Chr7:39063400..45363096 [GRCh38]
Chr7:39103000..45402695 [GRCh37]
Chr7:39069525..45369220 [NCBI36]
Chr7:7p14.1-13		 pathogenic
GRCh38/hg38 7p13(chr7:44345798-45076469)x3 copy number gain See cases [RCV000140230] Chr7:44345798..45076469 [GRCh38]
Chr7:44385397..45116068 [GRCh37]
Chr7:44351922..45082593 [NCBI36]
Chr7:7p13		 uncertain significance
GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 copy number loss See cases [RCV000142297] Chr7:38177999..45304100 [GRCh38]
Chr7:38217601..45343699 [GRCh37]
Chr7:38184126..45310224 [NCBI36]
Chr7:7p14.1-13		 pathogenic
NM_001101648.2(NPC1L1):c.529G>A (p.Val177Ile) single nucleotide variant not provided [RCV000513794] Chr7:44539868 [GRCh38]
Chr7:44579467 [GRCh37]
Chr7:7p13		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p13(chr7:44298464-44663913)x3 copy number gain See cases [RCV000449189] Chr7:44298464..44663913 [GRCh37]
Chr7:7p13		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p14.1-12.3(chr7:40350383-47034422)x1 copy number loss See cases [RCV000446941] Chr7:40350383..47034422 [GRCh37]
Chr7:7p14.1-12.3		 pathogenic
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1 copy number loss See cases [RCV000446955] Chr7:32911003..44576005 [GRCh37]
Chr7:7p14.3-13		 pathogenic
NM_001101648.2(NPC1L1):c.816C>G (p.Leu272=) single nucleotide variant Statins, attenuated cholesterol lowering by [RCV002463678]|not specified [RCV000454514] Chr7:44539581 [GRCh38]
Chr7:44579180 [GRCh37]
Chr7:7p13		 benign|drug response
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1		 pathogenic
NM_001101648.2(NPC1L1):c.3792C>T (p.Tyr1264=) single nucleotide variant not specified [RCV000455032] Chr7:44515807 [GRCh38]
Chr7:44555406 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.3086T>A (p.Leu1029Gln) single nucleotide variant not specified [RCV000455638] Chr7:44520815 [GRCh38]
Chr7:44560414 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3634-9A>C single nucleotide variant not specified [RCV000455683] Chr7:44515974 [GRCh38]
Chr7:44555573 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.3807T>C (p.Val1269=) single nucleotide variant not specified [RCV000455992] Chr7:44513639 [GRCh38]
Chr7:44553238 [GRCh37]
Chr7:7p13		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001101648.2(NPC1L1):c.194A>G (p.Lys65Arg) single nucleotide variant not specified [RCV004325157] Chr7:44540203 [GRCh38]
Chr7:44579802 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2909A>T (p.Tyr970Phe) single nucleotide variant not specified [RCV004327723] Chr7:44521756 [GRCh38]
Chr7:44561355 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2416C>T (p.Arg806Trp) single nucleotide variant not specified [RCV004311941] Chr7:44532211 [GRCh38]
Chr7:44571810 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1085C>T (p.Pro362Leu) single nucleotide variant not specified [RCV004304659] Chr7:44539312 [GRCh38]
Chr7:44578911 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.335G>A (p.Arg112His) single nucleotide variant not specified [RCV004289126] Chr7:44540062 [GRCh38]
Chr7:44579661 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1216C>T (p.Arg406Ter) single nucleotide variant LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 [RCV000627038] Chr7:44539181 [GRCh38]
Chr7:44578780 [GRCh37]
Chr7:7p13		 association
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001101648.2(NPC1L1):c.3080+9G>A single nucleotide variant not provided [RCV000958924] Chr7:44520983 [GRCh38]
Chr7:44560582 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.1059G>C (p.Leu353=) single nucleotide variant not provided [RCV000968607] Chr7:44539338 [GRCh38]
Chr7:44578937 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.2463T>G (p.Pro821=) single nucleotide variant not provided [RCV000947007] Chr7:44532164 [GRCh38]
Chr7:44571763 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.817G>T (p.Asp273Tyr) single nucleotide variant not provided [RCV000949729] Chr7:44539580 [GRCh38]
Chr7:44579179 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.3200G>A (p.Arg1067Gln) single nucleotide variant not provided [RCV000967047] Chr7:44517294 [GRCh38]
Chr7:44556893 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.2673C>T (p.Asn891=) single nucleotide variant not provided [RCV000898008] Chr7:44522207 [GRCh38]
Chr7:44561806 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.2505T>C (p.Ala835=) single nucleotide variant not provided [RCV000973400] Chr7:44532122 [GRCh38]
Chr7:44571721 [GRCh37]
Chr7:7p13		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001101648.2(NPC1L1):c.3259G>C (p.Asp1087His) single nucleotide variant not provided [RCV000958923] Chr7:44517235 [GRCh38]
Chr7:44556834 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.2514C>G (p.Pro838=) single nucleotide variant not provided [RCV000916157] Chr7:44532113 [GRCh38]
Chr7:44571712 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.1111G>T (p.Val371Phe) single nucleotide variant not specified [RCV004304667] Chr7:44539286 [GRCh38]
Chr7:44578885 [GRCh37]
Chr7:7p13		 uncertain significance
NC_000007.13:g.(?_43810758)_(44747598_?)del deletion not provided [RCV003105673] Chr7:43810758..44747598 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3261C>A (p.Asp1087Glu) single nucleotide variant not specified [RCV004321203] Chr7:44517233 [GRCh38]
Chr7:44556832 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2894C>T (p.Ser965Phe) single nucleotide variant not specified [RCV004293104] Chr7:44521771 [GRCh38]
Chr7:44561370 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3312G>C (p.Gln1104His) single nucleotide variant not provided [RCV000922386] Chr7:44516910 [GRCh38]
Chr7:44556509 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.2920C>T (p.Pro974Ser) single nucleotide variant not provided [RCV000965749] Chr7:44521745 [GRCh38]
Chr7:44561344 [GRCh37]
Chr7:7p13		 benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001101648.2(NPC1L1):c.570C>T (p.Gly190=) single nucleotide variant not provided [RCV001355296] Chr7:44539827 [GRCh38]
Chr7:44579426 [GRCh37]
Chr7:7p13		 uncertain significance
GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566) copy number loss Syndactyly [RCV001352654] Chr7:41124364..47945566 [GRCh37]
Chr7:7p14.1-12.3		 pathogenic
GRCh37/hg19 7p13-12.2(chr7:43341583-50171623) copy number loss Intracranial hemorrhage [RCV001352658] Chr7:43341583..50171623 [GRCh37]
Chr7:7p13-12.2		 pathogenic
GRCh37/hg19 7p14.1-12.2(chr7:40778439-50228656) copy number loss not specified [RCV002053688] Chr7:40778439..50228656 [GRCh37]
Chr7:7p14.1-12.2		 pathogenic
NM_001101648.2(NPC1L1):c.1645C>A (p.Pro549Thr) single nucleotide variant not specified [RCV004317817] Chr7:44536878 [GRCh38]
Chr7:44576477 [GRCh37]
Chr7:7p13		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_001101648.2(NPC1L1):c.2637+1287A>G single nucleotide variant Statins, attenuated cholesterol lowering by [RCV002463822] Chr7:44530468 [GRCh38]
Chr7:44570067 [GRCh37]
Chr7:7p13		 drug response
NM_001101648.2(NPC1L1):c.2638-43G>A single nucleotide variant Statins, attenuated cholesterol lowering by [RCV002463823] Chr7:44522285 [GRCh38]
Chr7:44561884 [GRCh37]
Chr7:7p13		 drug response
NM_001101648.2(NPC1L1):c.2146A>G (p.Ile716Val) single nucleotide variant not specified [RCV004190458] Chr7:44534467 [GRCh38]
Chr7:44574066 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.725G>A (p.Arg242His) single nucleotide variant not specified [RCV004218272] Chr7:44539672 [GRCh38]
Chr7:44579271 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3137-1261C>T single nucleotide variant not specified [RCV004155471] Chr7:44518618 [GRCh38]
Chr7:44558217 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1126A>T (p.Thr376Ser) single nucleotide variant not specified [RCV004223690] Chr7:44539271 [GRCh38]
Chr7:44578870 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.229A>G (p.Ile77Val) single nucleotide variant not specified [RCV004121234] Chr7:44540168 [GRCh38]
Chr7:44579767 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3805G>A (p.Val1269Ile) single nucleotide variant not specified [RCV004234057] Chr7:44513641 [GRCh38]
Chr7:44553240 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.1789T>G (p.Leu597Val) single nucleotide variant not specified [RCV004098168] Chr7:44536321 [GRCh38]
Chr7:44575920 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2627C>A (p.Ala876Asp) single nucleotide variant not specified [RCV004162946] Chr7:44531765 [GRCh38]
Chr7:44571364 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.796A>G (p.Ile266Val) single nucleotide variant not specified [RCV004119777] Chr7:44539601 [GRCh38]
Chr7:44579200 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.496G>A (p.Glu166Lys) single nucleotide variant not specified [RCV004131138] Chr7:44539901 [GRCh38]
Chr7:44579500 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3988C>T (p.Arg1330Trp) single nucleotide variant not specified [RCV004082519] Chr7:44513458 [GRCh38]
Chr7:44553057 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.982A>G (p.Lys328Glu) single nucleotide variant not specified [RCV004157688] Chr7:44539415 [GRCh38]
Chr7:44579014 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2447A>G (p.Gln816Arg) single nucleotide variant not specified [RCV004230030] Chr7:44532180 [GRCh38]
Chr7:44571779 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.3101C>T (p.Thr1034Ile) single nucleotide variant not specified [RCV004214459] Chr7:44520800 [GRCh38]
Chr7:44560399 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3933T>G (p.Phe1311Leu) single nucleotide variant not specified [RCV004110116] Chr7:44513513 [GRCh38]
Chr7:44553112 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.38C>A (p.Ala13Asp) single nucleotide variant not specified [RCV004150424] Chr7:44541222 [GRCh38]
Chr7:44580821 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3137-1304G>A single nucleotide variant not specified [RCV004229897] Chr7:44518661 [GRCh38]
Chr7:44558260 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2777A>G (p.Asn926Ser) single nucleotide variant not specified [RCV004216033] Chr7:44522103 [GRCh38]
Chr7:44561702 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1817G>A (p.Arg606Gln) single nucleotide variant not specified [RCV004229823] Chr7:44536293 [GRCh38]
Chr7:44575892 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1688A>G (p.Asp563Gly) single nucleotide variant not specified [RCV004159486] Chr7:44536422 [GRCh38]
Chr7:44576021 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1256G>T (p.Ser419Ile) single nucleotide variant not specified [RCV004147590] Chr7:44539141 [GRCh38]
Chr7:44578740 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3518C>T (p.Ser1173Leu) single nucleotide variant not specified [RCV004181675] Chr7:44516704 [GRCh38]
Chr7:44556303 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.311C>T (p.Ser104Leu) single nucleotide variant not specified [RCV004162121] Chr7:44540086 [GRCh38]
Chr7:44579685 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3812C>T (p.Pro1271Leu) single nucleotide variant not specified [RCV004203947] Chr7:44513634 [GRCh38]
Chr7:44553233 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2057T>G (p.Phe686Cys) single nucleotide variant not specified [RCV004073647] Chr7:44534556 [GRCh38]
Chr7:44574155 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2951T>A (p.Val984Asp) single nucleotide variant not specified [RCV004197989] Chr7:44521714 [GRCh38]
Chr7:44561313 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1922T>C (p.Ile641Thr) single nucleotide variant not specified [RCV004140329] Chr7:44535901 [GRCh38]
Chr7:44575500 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2470G>A (p.Gly824Arg) single nucleotide variant not specified [RCV004145257] Chr7:44532157 [GRCh38]
Chr7:44571756 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1613T>C (p.Leu538Pro) single nucleotide variant not specified [RCV004167430] Chr7:44536910 [GRCh38]
Chr7:44576509 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2078G>A (p.Arg693His) single nucleotide variant not specified [RCV004081731] Chr7:44534535 [GRCh38]
Chr7:44574134 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1213T>C (p.Phe405Leu) single nucleotide variant not specified [RCV004078934] Chr7:44539184 [GRCh38]
Chr7:44578783 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2212C>G (p.Arg738Gly) single nucleotide variant not specified [RCV004329016] Chr7:44533808 [GRCh38]
Chr7:44573407 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3688G>T (p.Ala1230Ser) single nucleotide variant not specified [RCV004252165] Chr7:44515911 [GRCh38]
Chr7:44555510 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1417G>A (p.Ala473Thr) single nucleotide variant not specified [RCV004271409] Chr7:44538980 [GRCh38]
Chr7:44578579 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3989G>A (p.Arg1330Gln) single nucleotide variant not specified [RCV004251383] Chr7:44513457 [GRCh38]
Chr7:44553056 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.1846A>G (p.Met616Val) single nucleotide variant not specified [RCV004252166] Chr7:44536264 [GRCh38]
Chr7:44575863 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1493G>A (p.Arg498His) single nucleotide variant LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 [RCV003133059] Chr7:44538904 [GRCh38]
Chr7:44578503 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3203C>G (p.Ala1068Gly) single nucleotide variant not specified [RCV004265224] Chr7:44517291 [GRCh38]
Chr7:44556890 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1415A>G (p.Tyr472Cys) single nucleotide variant not specified [RCV004265005] Chr7:44538982 [GRCh38]
Chr7:44578581 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.13G>A (p.Gly5Ser) single nucleotide variant not specified [RCV004257316] Chr7:44541247 [GRCh38]
Chr7:44580846 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1103C>T (p.Ala368Val) single nucleotide variant not specified [RCV004277895] Chr7:44539294 [GRCh38]
Chr7:44578893 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1037C>T (p.Thr346Met) single nucleotide variant not specified [RCV004356901] Chr7:44539360 [GRCh38]
Chr7:44578959 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2685G>C (p.Glu895Asp) single nucleotide variant not specified [RCV004365290] Chr7:44522195 [GRCh38]
Chr7:44561794 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1813C>T (p.Arg605Cys) single nucleotide variant not specified [RCV004336417] Chr7:44536297 [GRCh38]
Chr7:44575896 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2485C>T (p.Leu829Phe) single nucleotide variant not specified [RCV004338268] Chr7:44532142 [GRCh38]
Chr7:44571741 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3346C>A (p.Leu1116Ile) single nucleotide variant not specified [RCV004352348] Chr7:44516876 [GRCh38]
Chr7:44556475 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1856G>T (p.Arg619Leu) single nucleotide variant not specified [RCV004362287] Chr7:44535967 [GRCh38]
Chr7:44575566 [GRCh37]
Chr7:7p13		 uncertain significance
GRCh37/hg19 7p14.1-12.3(chr7:42516660-46202495)x1 copy number loss not provided [RCV003482956] Chr7:42516660..46202495 [GRCh37]
Chr7:7p14.1-12.3		 pathogenic
NM_001101648.2(NPC1L1):c.3777C>T (p.Pro1259=) single nucleotide variant not provided [RCV003433787] Chr7:44515822 [GRCh38]
Chr7:44555421 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.661C>T (p.His221Tyr) single nucleotide variant not provided [RCV003433789] Chr7:44539736 [GRCh38]
Chr7:44579335 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.3137-1305A>G single nucleotide variant not provided [RCV003433788] Chr7:44518662 [GRCh38]
Chr7:44558261 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.811G>T (p.Ala271Ser) single nucleotide variant not provided [RCV003423561] Chr7:44539586 [GRCh38]
Chr7:44579185 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.3081C>T (p.Gly1027=) single nucleotide variant not provided [RCV003423559] Chr7:44520820 [GRCh38]
Chr7:44560419 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.812C>T (p.Ala271Val) single nucleotide variant not provided [RCV003423560] Chr7:44539585 [GRCh38]
Chr7:44579184 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.1078G>A (p.Val360Ile) single nucleotide variant NPC1L1-related disorder [RCV003941644] Chr7:44539319 [GRCh38]
Chr7:44578918 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.928G>T (p.Ala310Ser) single nucleotide variant NPC1L1-related disorder [RCV003954950] Chr7:44539469 [GRCh38]
Chr7:44579068 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.934G>C (p.Asp312His) single nucleotide variant not specified [RCV004490943] Chr7:44539463 [GRCh38]
Chr7:44579062 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.811G>A (p.Ala271Thr) single nucleotide variant not specified [RCV004490942] Chr7:44539586 [GRCh38]
Chr7:44579185 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.776G>A (p.Cys259Tyr) single nucleotide variant not specified [RCV004490941] Chr7:44539621 [GRCh38]
Chr7:44579220 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.571G>A (p.Val191Met) single nucleotide variant not specified [RCV004490940] Chr7:44539826 [GRCh38]
Chr7:44579425 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.458T>C (p.Val153Ala) single nucleotide variant not specified [RCV004490938] Chr7:44539939 [GRCh38]
Chr7:44579538 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3259G>T (p.Asp1087Tyr) single nucleotide variant not specified [RCV004490935] Chr7:44517235 [GRCh38]
Chr7:44556834 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3137-1268A>G single nucleotide variant not specified [RCV004490934] Chr7:44518625 [GRCh38]
Chr7:44558224 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3137-1291C>T single nucleotide variant not specified [RCV004490933] Chr7:44518648 [GRCh38]
Chr7:44558247 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2207T>C (p.Ile736Thr) single nucleotide variant not specified [RCV004490930] Chr7:44533813 [GRCh38]
Chr7:44573412 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.825C>T (p.Thr275=) single nucleotide variant NPC1L1-related disorder [RCV003952100] Chr7:44539572 [GRCh38]
Chr7:44579171 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.1935G>A (p.Leu645=) single nucleotide variant NPC1L1-related disorder [RCV003954481] Chr7:44535888 [GRCh38]
Chr7:44575487 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.1753C>T (p.Arg585Cys) single nucleotide variant not specified [RCV004490925] Chr7:44536357 [GRCh38]
Chr7:44575956 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1079T>C (p.Val360Ala) single nucleotide variant not specified [RCV004490920] Chr7:44539318 [GRCh38]
Chr7:44578917 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1250G>A (p.Arg417Gln) single nucleotide variant not specified [RCV004490921] Chr7:44539147 [GRCh38]
Chr7:44578746 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1676A>G (p.Tyr559Cys) single nucleotide variant not specified [RCV004490924] Chr7:44536847 [GRCh38]
Chr7:44576446 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1859C>T (p.Ser620Phe) single nucleotide variant not specified [RCV004490926] Chr7:44535964 [GRCh38]
Chr7:44575563 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1997C>T (p.Ala666Val) single nucleotide variant not specified [RCV004490928] Chr7:44534616 [GRCh38]
Chr7:44574215 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1408A>G (p.Ile470Val) single nucleotide variant not specified [RCV004490922] Chr7:44538989 [GRCh38]
Chr7:44578588 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1565T>G (p.Phe522Cys) single nucleotide variant not specified [RCV004490923] Chr7:44538832 [GRCh38]
Chr7:44578431 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.979G>A (p.Asp327Asn) single nucleotide variant not specified [RCV004490944] Chr7:44539418 [GRCh38]
Chr7:44579017 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3730C>G (p.Leu1244Val) single nucleotide variant not specified [RCV004490937] Chr7:44515869 [GRCh38]
Chr7:44555468 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2459C>T (p.Pro820Leu) single nucleotide variant not specified [RCV004490931] Chr7:44532168 [GRCh38]
Chr7:44571767 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.1038G>A (p.Thr346=) single nucleotide variant NPC1L1-related disorder [RCV003926852] Chr7:44539359 [GRCh38]
Chr7:44578958 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.527G>A (p.Arg176His) single nucleotide variant not specified [RCV004490939] Chr7:44539870 [GRCh38]
Chr7:44579469 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.3454A>G (p.Thr1152Ala) single nucleotide variant not specified [RCV004490936] Chr7:44516768 [GRCh38]
Chr7:44556367 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1249C>T (p.Arg417Trp) single nucleotide variant NPC1L1-related disorder [RCV003919704] Chr7:44539148 [GRCh38]
Chr7:44578747 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.1722C>T (p.Phe574=) single nucleotide variant NPC1L1-related disorder [RCV003961414] Chr7:44536388 [GRCh38]
Chr7:44575987 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.3797-11TC[2] microsatellite NPC1L1-related disorder [RCV003912033] Chr7:44513655..44513656 [GRCh38]
Chr7:44553254..44553255 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.1374G>A (p.Ser458=) single nucleotide variant NPC1L1-related disorder [RCV003924679] Chr7:44539023 [GRCh38]
Chr7:44578622 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.846G>A (p.Pro282=) single nucleotide variant NPC1L1-related disorder [RCV003964025] Chr7:44539551 [GRCh38]
Chr7:44579150 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.6G>A (p.Ala2=) single nucleotide variant NPC1L1-related disorder [RCV003929792] Chr7:44541254 [GRCh38]
Chr7:44580853 [GRCh37]
Chr7:7p13		 likely benign
NM_001101648.2(NPC1L1):c.3841G>A (p.Glu1281Lys) single nucleotide variant NPC1L1-related disorder [RCV003912123] Chr7:44513605 [GRCh38]
Chr7:44553204 [GRCh37]
Chr7:7p13		 benign
NM_001101648.2(NPC1L1):c.1996G>A (p.Ala666Thr) single nucleotide variant not specified [RCV004490927] Chr7:44534617 [GRCh38]
Chr7:44574216 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2021C>T (p.Ala674Val) single nucleotide variant not specified [RCV004490929] Chr7:44534592 [GRCh38]
Chr7:44574191 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.199A>T (p.Thr67Ser) single nucleotide variant not specified [RCV004644071] Chr7:44540198 [GRCh38]
Chr7:44579797 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.422G>A (p.Arg141His) single nucleotide variant not specified [RCV004644074] Chr7:44539975 [GRCh38]
Chr7:44579574 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3688G>A (p.Ala1230Thr) single nucleotide variant not specified [RCV004644072] Chr7:44515911 [GRCh38]
Chr7:44555510 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.2950G>A (p.Val984Ile) single nucleotide variant not specified [RCV004644073] Chr7:44521715 [GRCh38]
Chr7:44561314 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3632C>A (p.Ala1211Glu) single nucleotide variant not specified [RCV004650270] Chr7:44516085 [GRCh38]
Chr7:44555684 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1930T>G (p.Phe644Val) single nucleotide variant not specified [RCV004650271] Chr7:44535893 [GRCh38]
Chr7:44575492 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.49C>T (p.Arg17Cys) single nucleotide variant not specified [RCV004650263] Chr7:44541211 [GRCh38]
Chr7:44580810 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3224A>G (p.Asn1075Ser) single nucleotide variant not specified [RCV004650264] Chr7:44517270 [GRCh38]
Chr7:44556869 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3740C>G (p.Thr1247Ser) single nucleotide variant not specified [RCV004650266] Chr7:44515859 [GRCh38]
Chr7:44555458 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1261A>G (p.Arg421Gly) single nucleotide variant not specified [RCV004650267] Chr7:44539136 [GRCh38]
Chr7:44578735 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.3793G>A (p.Val1265Met) single nucleotide variant not specified [RCV004650268] Chr7:44515806 [GRCh38]
Chr7:44555405 [GRCh37]
Chr7:7p13		 uncertain significance
NM_001101648.2(NPC1L1):c.1802G>T (p.Arg601Leu) single nucleotide variant not specified [RCV004650269] Chr7:44536308 [GRCh38]
Chr7:44575907 [GRCh37]
Chr7:7p13		 uncertain significance
NC_000007.13:g.(?_43810758)_(45977174_?)del deletion not provided [RCV004578545] Chr7:43810758..45977174 [GRCh37]
Chr7:7p13-12.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1390
Count of miRNA genes:647
Interacting mature miRNAs:729
Transcripts:ENST00000289547, ENST00000381160, ENST00000423141, ENST00000546276
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
407052353GWAS701329_Htotal cholesterol measurement QTL GWAS701329 (human)4e-15total cholesterol measurementblood total cholesterol level (CMO:0000051)74453958144539582Human
407054919GWAS703895_Hcholesteryl ester measurement, chylomicron measurement, very low density lipoprotein cholesterol measurement QTL GWAS703895 (human)2e-12blood lipid amount (VT:0003949)blood very low density lipoprotein cholesterol level (CMO:0000648)74454127744541278Human
407080902GWAS729878_Hlow density lipoprotein cholesterol measurement, lipid measurement QTL GWAS729878 (human)6e-19low density lipoprotein cholesterol measurement, lipid measurementblood lipid measurement (CMO:0000050)74454127744541278Human
407069636GWAS718612_Hchylomicron measurement, total cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS718612 (human)3e-10chylomicron measurement, total cholesterol measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)74454127744541278Human
407085898GWAS734874_Hlow density lipoprotein cholesterol measurement QTL GWAS734874 (human)9e-19total cholesterol in medium LDLblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407095241GWAS744217_Hlow density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratio QTL GWAS744217 (human)5e-18low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407117128GWAS766104_Hphospholipids in IDL measurement QTL GWAS766104 (human)7e-20phospholipids in IDL measurementblood intermediate density lipoprotein phospholipid level (CMO:0001574)74454127744541278Human
407082190GWAS731166_Hfree cholesterol in IDL measurement QTL GWAS731166 (human)3e-17free cholesterol in small LDL measurement blood intermediate density lipoprotein cholesterol level (CMO:0001562)74454127744541278Human
407310025GWAS959001_Hlow density lipoprotein cholesterol measurement QTL GWAS959001 (human)2e-12low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453890144538902Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human
407088338GWAS737314_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS737314 (human)6e-15low density lipoprotein cholesterol measurement, cholesteryl esters:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407129936GWAS778912_Htotal cholesterol in small LDL QTL GWAS778912 (human)8e-18total cholesterol in small LDL74454127744541278Human
407125969GWAS774945_Hlow density lipoprotein cholesterol measurement QTL GWAS774945 (human)6e-18low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
406903512GWAS552488_Hlow density lipoprotein cholesterol measurement QTL GWAS552488 (human)3e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407055451GWAS704427_Htotal lipids in very small VLDL measurement QTL GWAS704427 (human)4e-18total lipids in small LDL74454127744541278Human
406903513GWAS552489_Hlow density lipoprotein cholesterol measurement QTL GWAS552489 (human)2e-10low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood high density lipoprotein cholesterol level (CMO:0000052)74454127744541278Human
407084634GWAS733610_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS733610 (human)6e-13cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407128793GWAS777769_Htriglycerides in small LDL measurement QTL GWAS777769 (human)1e-09triglycerides in small LDL measurement 74454127744541278Human
2302781MAMTS16_HMammary tumor susceptibility QTL 16 (human)0.033Mammary tumor susceptibility73634937162349371Human
1558711BP56_HBlood pressure QTL 56 (human)2.240.000002Blood pressuresystolic73634937162349371Human
407121636GWAS770612_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS770612 (human)5e-11blood lipid amount (VT:0003949)blood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407141606GWAS790582_Hvery low density lipoprotein cholesterol measurement, esterified cholesterol measurement QTL GWAS790582 (human)1e-19very low density lipoprotein cholesterol measurement, esterified cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)74454127744541278Human
407052519GWAS701495_Hphospholipids in VLDL measurement QTL GWAS701495 (human)3e-18phospholipids in VLDL measurement 74454127744541278Human
407108071GWAS757047_Htotal lipids in large LDL QTL GWAS757047 (human)4e-20total lipids in large LDL74454127744541278Human
407076580GWAS725556_Hfree cholesterol measurement QTL GWAS725556 (human)2e-15free cholesterol measurementblood cholesterol level (CMO:0002280)74454127744541278Human
407066859GWAS715835_Htotal cholesterol measurement QTL GWAS715835 (human)6e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)74453802344538024Human
407081707GWAS730683_Hesterified cholesterol measurement, intermediate density lipoprotein measurement QTL GWAS730683 (human)4e-21esterified cholesterol measurement, intermediate density lipoprotein measurementblood intermediate density lipoprotein cholesterol level (CMO:0001562)74454127744541278Human
407093099GWAS742075_Hfree cholesterol in large LDL measurement QTL GWAS742075 (human)1e-18free cholesterol in large LDL measurement74454127744541278Human
407066858GWAS715834_Htotal cholesterol measurement QTL GWAS715834 (human)5e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)74453802344538024Human
407058922GWAS707898_Hesterified cholesterol measurement QTL GWAS707898 (human)4e-16esterified cholesterol measurement74454127744541278Human
407083498GWAS732474_Hphospholipids in medium LDL measurement QTL GWAS732474 (human)2e-19total cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407047529GWAS696505_Hlow density lipoprotein cholesterol measurement QTL GWAS696505 (human)7e-16low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453958144539582Human
407036648GWAS685624_Hfatty acid measurement QTL GWAS685624 (human)7e-10fatty acid measurement74454127744541278Human
407031016GWAS679992_Hphospholipids in VLDL measurement QTL GWAS679992 (human)7e-12phospholipids in VLDL measurement 74454127744541278Human
407123434GWAS772410_Hphospholipids in VLDL measurement QTL GWAS772410 (human)8e-10phospholipids in VLDL measurement 74454127744541278Human
407044077GWAS693053_Htotal lipids in small VLDL QTL GWAS693053 (human)1e-12cholesterol:total lipids ratio, cholesteryl esters:total lipids ratio74454127744541278Human
406993015GWAS641991_Hlow density lipoprotein cholesterol measurement QTL GWAS641991 (human)3e-15low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407212658GWAS861634_Htotal cholesterol measurement QTL GWAS861634 (human)5e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)74453890144538902Human
407127539GWAS776515_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS776515 (human)4e-12low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407129338GWAS778314_Hcholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS778314 (human)3e-11cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453527544535276Human
407333241GWAS982217_Hlow density lipoprotein cholesterol measurement QTL GWAS982217 (human)0.00001low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453946944539471Human
406955647GWAS604623_Hlow density lipoprotein cholesterol measurement QTL GWAS604623 (human)1e-10cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)74454127744541278Human
407056131GWAS705107_Htotal cholesterol measurement, very low density lipoprotein cholesterol measurement QTL GWAS705107 (human)5e-17cholesterol in very small VLDL measurement blood very low density lipoprotein cholesterol level (CMO:0000648)74454127744541278Human
407043715GWAS692691_Hfree cholesterol in small VLDL measurement QTL GWAS692691 (human)2e-13total cholesterol in medium VLDL74454127744541278Human
407126530GWAS775506_Hesterified cholesterol measurement, low density lipoprotein cholesterol measurement QTL GWAS775506 (human)1e-17esterified cholesterol measurement, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
1559132SAPOB3_HSerum apolipoprotein B level QTL 3 (human)20.4Apolipoprotein levelapolipoprotein B73289107458891074Human
406957322GWAS606298_Htotal cholesterol measurement QTL GWAS606298 (human)2e-13total cholesterol measurementblood total cholesterol level (CMO:0000051)74453958144539582Human
407055112GWAS704088_Hvery low density lipoprotein cholesterol measurement QTL GWAS704088 (human)7e-18apolipoprotein A 1 measurement, apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)74454127744541278Human
407143703GWAS792679_Htotal cholesterol in small VLDL QTL GWAS792679 (human)2e-18total cholesterol in small VLDL74454127744541278Human
407082774GWAS731750_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS731750 (human)5e-10triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)74454127744541278Human
406917526GWAS566502_Hlow density lipoprotein cholesterol measurement QTL GWAS566502 (human)0.0000008low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453958144539582Human
407124638GWAS773614_Hphospholipids in large LDL measurement QTL GWAS773614 (human)1e-20phospholipids in large LDL measurementblood low density lipoprotein phospholipid level (CMO:0001568)74454127744541278Human
406903451GWAS552427_Hlow density lipoprotein cholesterol measurement QTL GWAS552427 (human)7e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453802344538024Human
406903452GWAS552428_Hlow density lipoprotein cholesterol measurement QTL GWAS552428 (human)2e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453802344538024Human
406903453GWAS552429_Hlow density lipoprotein cholesterol measurement QTL GWAS552429 (human)0.0000001low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453958144539582Human
406903454GWAS552430_Hlow density lipoprotein cholesterol measurement QTL GWAS552430 (human)4e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453958144539582Human
407087517GWAS736493_Hcholesterol esters in large VLDL measurement QTL GWAS736493 (human)2e-09cholesterol esters in large VLDL measurementblood high density lipoprotein cholesterol level (CMO:0000052)74454127744541278Human
407084956GWAS733932_Htotal cholesterol in large LDL QTL GWAS733932 (human)2e-20total cholesterol in large LDL74454127744541278Human
407083036GWAS732012_Hcholesterol esters in large LDL measurement QTL GWAS732012 (human)9e-21cholesterol esters in large LDL measurement74454127744541278Human
407187748GWAS836724_Htotal cholesterol measurement QTL GWAS836724 (human)2e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)74454006244540063Human
407029920GWAS678896_Hvery low density lipoprotein cholesterol measurement QTL GWAS678896 (human)1e-11cholesterol:total lipids ratio, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407123238GWAS772214_Htotal cholesterol measurement QTL GWAS772214 (human)2e-16free cholesterol in very small VLDL measurement blood total cholesterol level (CMO:0000051)74454127744541278Human
407330978GWAS979954_Htotal cholesterol measurement QTL GWAS979954 (human)0.000008total cholesterol measurementblood total cholesterol level (CMO:0000051)74453946944539471Human
406963364GWAS612340_Hlow density lipoprotein cholesterol measurement QTL GWAS612340 (human)2e-14low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453958144539582Human
407069862GWAS718838_Htotal cholesterol measurement QTL GWAS718838 (human)5e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)74454127744541278Human
407088294GWAS737270_Hlinoleic acid measurement QTL GWAS737270 (human)9e-12linoleic acid measurementblood free fatty acids level (CMO:0000117)74454127744541278Human
407069861GWAS718837_Htotal cholesterol measurement QTL GWAS718837 (human)0.0000002total cholesterol measurementblood total cholesterol level (CMO:0000051)74454127744541278Human
407069860GWAS718836_Htotal cholesterol measurement QTL GWAS718836 (human)0.000006total cholesterol measurementblood total cholesterol level (CMO:0000051)74453958144539582Human
407073706GWAS722682_Hapolipoprotein B measurement QTL GWAS722682 (human)8e-21apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)74454127744541278Human
407025326GWAS674302_Htotal cholesterol measurement QTL GWAS674302 (human)3e-11total cholesterol measurementblood total cholesterol level (CMO:0000051)74453958144539582Human
407069615GWAS718591_Htotal cholesterol in IDL QTL GWAS718591 (human)3e-20total lipids in IDLblood intermediate density lipoprotein cholesterol level (CMO:0001562)74454127744541278Human
407124395GWAS773371_Hremnant cholesterol measurement QTL GWAS773371 (human)2e-21remnant cholesterol measurement74454127744541278Human
407091123GWAS740099_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS740099 (human)6e-11triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)74454127744541278Human
407122612GWAS771588_Hpolyunsaturated fatty acid measurement QTL GWAS771588 (human)9e-10milk polyunsaturated fatty acid amount (VT:0010374)milk polyunsaturated fatty acid measurement (CMO:0000821)74454127744541278Human
407025332GWAS674308_Hlow density lipoprotein cholesterol measurement QTL GWAS674308 (human)4e-11low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74453958144539582Human
407113279GWAS762255_Hlow density lipoprotein cholesterol measurement QTL GWAS762255 (human)5e-20low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human
407140287GWAS789263_Hcholesterol esters in medium VLDL measurement QTL GWAS789263 (human)1e-16very low density lipoprotein cholesterol measurement, esterified cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)74454127744541278Human
406993342GWAS642318_Htotal cholesterol measurement QTL GWAS642318 (human)5e-12total cholesterol measurementblood total cholesterol level (CMO:0000051)74454127744541278Human
407118523GWAS767499_Hlow density lipoprotein cholesterol measurement, phospholipids:total lipids ratio QTL GWAS767499 (human)6e-14low density lipoprotein cholesterol measurement, phospholipids:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)74454127744541278Human

Markers in Region
RH46066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,552,277 - 44,552,407UniSTSGRCh37
Build 36744,518,802 - 44,518,932RGDNCBI36
Celera744,651,282 - 44,651,412RGD
Cytogenetic Map7p13UniSTS
HuRef744,436,386 - 44,436,516UniSTS
CRA_TCAGchr7v2744,591,801 - 44,591,931UniSTS
GeneMap99-GB4 RH Map7203.67UniSTS
D7S2697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,574,438 - 44,574,555UniSTSGRCh37
Build 36744,540,963 - 44,541,080RGDNCBI36
Celera744,673,423 - 44,673,540RGD
Cytogenetic Map7p13UniSTS
HuRef744,458,547 - 44,458,664UniSTS
CRA_TCAGchr7v2744,613,952 - 44,614,069UniSTS
TNG Radiation Hybrid Map721779.0UniSTS
NPC1L1_9593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,552,075 - 44,552,752UniSTSGRCh37
Build 36744,518,600 - 44,519,277RGDNCBI36
Celera744,651,080 - 44,651,757RGD
HuRef744,436,184 - 44,436,861UniSTS
CRA_TCAGchr7v2744,591,599 - 44,592,276UniSTS
SGC38249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37744,552,195 - 44,552,493UniSTSGRCh37
Build 36744,518,720 - 44,519,018RGDNCBI36
Celera744,651,200 - 44,651,498RGD
Cytogenetic Map7p13UniSTS
HuRef744,436,304 - 44,436,602UniSTS
CRA_TCAGchr7v2744,591,719 - 44,592,017UniSTS
GeneMap99-GB4 RH Map7204.27UniSTS
Whitehead-RH Map7149.4UniSTS
NCBI RH Map7651.1UniSTS


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 2423 2778 2213 4747 1649 2229 2 613 1574 456 2191 6798 6046 34 3594 784 1690 1508 167 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001101648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF192522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF192523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY437865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY515256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ481111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000289547   ⟹   ENSP00000289547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,512,535 - 44,541,315 (-)Ensembl
Ensembl Acc Id: ENST00000381160   ⟹   ENSP00000370552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,512,535 - 44,541,330 (-)Ensembl
Ensembl Acc Id: ENST00000423141   ⟹   ENSP00000404670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,533,227 - 44,541,315 (-)Ensembl
Ensembl Acc Id: ENST00000546276   ⟹   ENSP00000438033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl744,512,538 - 44,541,315 (-)Ensembl
RefSeq Acc Id: NM_001101648   ⟹   NP_001095118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,535 - 44,541,330 (-)NCBI
GRCh37744,552,134 - 44,580,914 (-)ENTREZGENE
GRCh37744,552,134 - 44,580,914 (-)NCBI
Build 36744,518,659 - 44,547,439 (-)NCBI Archive
HuRef744,436,243 - 44,465,023 (-)ENTREZGENE
CHM1_1744,556,489 - 44,585,261 (-)NCBI
T2T-CHM13v2.0744,672,255 - 44,701,030 (-)NCBI
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001300967   ⟹   NP_001287896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,533,227 - 44,541,330 (-)NCBI
CHM1_1744,577,173 - 44,585,261 (-)NCBI
T2T-CHM13v2.0744,692,927 - 44,701,030 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013389   ⟹   NP_037521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,535 - 44,541,330 (-)NCBI
GRCh37744,552,134 - 44,580,914 (-)ENTREZGENE
Build 36744,518,659 - 44,547,439 (-)NCBI Archive
HuRef744,436,243 - 44,465,023 (-)ENTREZGENE
CHM1_1744,556,489 - 44,585,261 (-)NCBI
T2T-CHM13v2.0744,672,255 - 44,701,030 (-)NCBI
CRA_TCAGchr7v2744,591,658 - 44,620,428 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011515326   ⟹   XP_011513628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,535 - 44,541,330 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515328   ⟹   XP_011513630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,512,535 - 44,540,160 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420280   ⟹   XP_047276236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38744,522,131 - 44,541,330 (-)NCBI
RefSeq Acc Id: XM_054358018   ⟹   XP_054213993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,672,255 - 44,701,030 (-)NCBI
RefSeq Acc Id: XM_054358019   ⟹   XP_054213994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,681,852 - 44,701,030 (-)NCBI
RefSeq Acc Id: XM_054358020   ⟹   XP_054213995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0744,672,255 - 44,700,025 (-)NCBI
RefSeq Acc Id: NP_001095118   ⟸   NM_001101648
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A0C4DFX6 (UniProtKB/TrEMBL),   A0A0C4DGG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_037521   ⟸   NM_013389
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6R3Q4 (UniProtKB/Swiss-Prot),   Q17RV5 (UniProtKB/Swiss-Prot),   D3DVK9 (UniProtKB/Swiss-Prot),   B7ZLE6 (UniProtKB/Swiss-Prot),   A4D2J7 (UniProtKB/Swiss-Prot),   Q9UHC8 (UniProtKB/Swiss-Prot),   Q9UHC9 (UniProtKB/Swiss-Prot),   A0A0C4DGG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001287896   ⟸   NM_001300967
- Peptide Label: isoform 3 precursor
- UniProtKB: Q9UHC9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513628   ⟸   XM_011515326
- Peptide Label: isoform X1
- UniProtKB: A0A0C4DGG6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513630   ⟸   XM_011515328
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000404670   ⟸   ENST00000423141
Ensembl Acc Id: ENSP00000438033   ⟸   ENST00000546276
Ensembl Acc Id: ENSP00000289547   ⟸   ENST00000289547
Ensembl Acc Id: ENSP00000370552   ⟸   ENST00000381160
RefSeq Acc Id: XP_047276236   ⟸   XM_047420280
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054213993   ⟸   XM_054358018
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213995   ⟸   XM_054358020
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054213994   ⟸   XM_054358019
- Peptide Label: isoform X2
Protein Domains
SSD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UHC9-F1-model_v2 AlphaFold Q9UHC9 1-1359 view protein structure

Promoters
RGD ID:7210515
Promoter ID:EPDNEW_H11004
Type:initiation region
Name:NPC1L1_1
Description:NPC1 like intracellular cholesterol transporter 1
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
GRCh38744,541,330 - 44,541,390EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7898 AgrOrtholog
COSMIC NPC1L1 COSMIC
Ensembl Genes ENSG00000015520 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000289547 ENTREZGENE
  ENST00000289547.8 UniProtKB/Swiss-Prot
  ENST00000381160 ENTREZGENE
  ENST00000381160.8 UniProtKB/TrEMBL
  ENST00000423141 ENTREZGENE
  ENST00000423141.1 UniProtKB/Swiss-Prot
  ENST00000546276.5 UniProtKB/TrEMBL
Gene3D-CATH Multidrug efflux transporter AcrB transmembrane domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000015520 GTEx
HGNC ID HGNC:7898 ENTREZGENE
Human Proteome Map NPC1L1 Human Proteome Map
InterPro HMGCR/SNAP/NPC1-like_SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NP_C_type UniProtKB/TrEMBL
  NPC1_MLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPC1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ptc/Disp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29881 UniProtKB/Swiss-Prot
NCBI Gene 29881 ENTREZGENE
OMIM 608010 OMIM
PANTHER NPC INTRACELLULAR CHOLESTEROL TRANSPORTER 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPC1-LIKE INTRACELLULAR CHOLESTEROL TRANSPORTER 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NPC1_MLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NPC1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Patched UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sterol-sensing UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB NPC1L1 RGD, PharmGKB
PROSITE SSD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Multidrug efflux transporter AcrB transmembrane domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DFX6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0C4DGG6 ENTREZGENE, UniProtKB/TrEMBL
  A4D2J7 ENTREZGENE
  B7ZLE6 ENTREZGENE
  D3DVK9 ENTREZGENE
  NPCL1_HUMAN UniProtKB/Swiss-Prot
  Q17RV5 ENTREZGENE
  Q6R3Q4 ENTREZGENE
  Q9UHC8 ENTREZGENE
  Q9UHC9 ENTREZGENE
UniProt Secondary A4D2J7 UniProtKB/Swiss-Prot
  B7ZLE6 UniProtKB/Swiss-Prot
  D3DVK9 UniProtKB/Swiss-Prot
  Q17RV5 UniProtKB/Swiss-Prot
  Q6R3Q4 UniProtKB/Swiss-Prot
  Q9UHC8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 NPC1L1  NPC1 like intracellular cholesterol transporter 1  NPC1L1  NPC1 like 1  Symbol and/or name change 5135510 APPROVED
2016-03-21 NPC1L1  NPC1 like 1  NPC1L1  NPC1-like 1  Symbol and/or name change 5135510 APPROVED
2012-11-20 NPC1L1  NPC1-like 1  NPC1L1  NPC1 (Niemann-Pick disease, type C1, gene)-like 1  Symbol and/or name change 5135510 APPROVED