VLDLR very low density lipoprotein receptor
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 64 |
Likely pathogenic | 0 | 46 |
Benign | 0 | 114 |
Likely benign | 0 | 872 |
Conflicting classifications of pathogenicity | 0 | 82 |
not provided | 0 | 2 |
Uncertain significance | 0 | 326 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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148 |
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1,218 |
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16 |
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CAMRQ1 |
SYNONYM | CARMQ1 |
SYNONYM | CHRMQ1 |
SYNONYM | VLDL-R |
SYNONYM | VLDLRCH |
MIM | 192977 OMIM |
HGNC | HGNC:12698 HGNC |
Ensembl | ENSG00000147852 Ensembl |
AllianceGenome | HGNC:12698 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000681306.1 | hg38 | chr9 | 2,622,053 | 2,656,916 | 34,864 |
ENST00000680746.1 | hg38 | chr9 | 2,621,567 | 2,655,931 | 34,365 |
ENST00000382100.8 | hg38 | chr9 | 2,621,787 | 2,660,056 | 38,270 |
ENST00000681618.1 | hg38 | chr9 | 2,622,110 | 2,656,039 | 33,930 |
ENST00000680746.1 | hg19 | chr9 | 2,621,567 | 2,655,931 | 34,365 |
ENST00000382100.8 | hg19 | chr9 | 2,621,787 | 2,660,056 | 38,270 |
ENST00000681306.1 | hg19 | chr9 | 2,622,053 | 2,656,916 | 34,864 |
ENST00000681618.1 | hg19 | chr9 | 2,622,110 | 2,656,039 | 33,930 |
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