NPC1L1 NPC1 like intracellular cholesterol transporter 1
Information
- Symbol
- NPC1L1
- Type
- protein-coding
- Description
- NPC1 like intracellular cholesterol transporter 1
- Entrez Gene ID
- 29881
- Genome
- hg19
- Position
- chr7:44,552,134-44,580,914
- Genome
- hg38
- Position
- chr7:44,512,535-44,541,315
- MIM
- 608010 OMIM
- HGNC
- HGNC:7898 HGNC
- Ensembl
- ENSG00000015520 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 30 |
| Likely benign | 0 | 50 |
| association | 0 | 2 |
| drug response | 0 | 6 |
| Uncertain significance | 0 | 152 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
228 |
 |
10 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | LDLCQ7 |
| SYNONYM | NPC11L1 |
| SYNONYM | SLC65A2 |
| MIM | 608010 OMIM |
| HGNC | HGNC:7898 HGNC |
| Ensembl | ENSG00000015520 Ensembl |
| AllianceGenome | HGNC:7898 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000289547.8 | hg38 | chr7 | 44,512,535 | 44,541,315 | 28,781 |
| ENST00000546276.5 | hg38 | chr7 | 44,512,538 | 44,541,315 | 28,778 |
| ENST00000423141.1 | hg38 | chr7 | 44,533,227 | 44,541,315 | 8,089 |
| ENST00000381160.8 | hg38 | chr7 | 44,512,535 | 44,541,330 | 28,796 |
| ENST00000289547.8 | hg19 | chr7 | 44,552,134 | 44,580,914 | 28,781 |
| ENST00000381160.8 | hg19 | chr7 | 44,552,134 | 44,580,929 | 28,796 |
| ENST00000546276.5 | hg19 | chr7 | 44,552,137 | 44,580,914 | 28,778 |
| ENST00000423141.1 | hg19 | chr7 | 44,572,826 | 44,580,914 | 8,089 |
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