OSBP2 oxysterol binding protein 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 20 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 72 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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100 |
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0 |
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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Target data | : |
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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Category | : |
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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 | HLM |
SYNONYM | ORP-4 |
SYNONYM | ORP4 |
SYNONYM | OSBPL1 |
SYNONYM | OSBPL4 |
MIM | 606729 OMIM |
HGNC | HGNC:8504 HGNC |
Ensembl | ENSG00000184792 Ensembl |
AllianceGenome | HGNC:8504 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000535268.5 | hg38 | chr22 | 30,881,681 | 30,907,824 | 26,144 |
ENST00000437268.6 | hg38 | chr22 | 30,822,516 | 30,907,824 | 85,309 |
ENST00000407373.5 | hg38 | chr22 | 30,694,076 | 30,907,632 | 213,557 |
ENST00000403222.7 | hg38 | chr22 | 30,694,206 | 30,907,824 | 213,619 |
ENST00000401475.5 | hg38 | chr22 | 30,764,253 | 30,906,772 | 142,520 |
ENST00000431368.6 | hg38 | chr22 | 30,881,681 | 30,907,623 | 25,943 |
ENST00000438716.3 | hg38 | chr22 | 30,693,782 | 30,906,554 | 212,773 |
ENST00000446658.6 | hg38 | chr22 | 30,694,889 | 30,906,406 | 211,518 |
ENST00000713559.1 | hg38 | chr22 | 30,803,146 | 30,907,266 | 104,121 |
ENST00000332585.11 | hg38 | chr22 | 30,694,874 | 30,907,813 | 212,940 |
ENST00000407373.5 | hg19 | chr22 | 31,090,063 | 31,303,619 | 213,557 |
ENST00000403222.7 | hg19 | chr22 | 31,090,193 | 31,303,811 | 213,619 |
ENST00000332585.11 | hg19 | chr22 | 31,090,861 | 31,303,800 | 212,940 |
ENST00000438716.3 | hg19 | chr22 | 31,089,769 | 31,302,541 | 212,773 |
ENST00000401475.5 | hg19 | chr22 | 31,160,240 | 31,302,759 | 142,520 |
ENST00000431368.6 | hg19 | chr22 | 31,277,668 | 31,303,610 | 25,943 |
ENST00000437268.6 | hg19 | chr22 | 31,218,503 | 31,303,811 | 85,309 |
ENST00000446658.6 | hg19 | chr22 | 31,090,876 | 31,302,393 | 211,518 |
ENST00000535268.5 | hg19 | chr22 | 31,277,668 | 31,303,811 | 26,144 |
ENST00000713559.1 | hg19 | chr22 | 31,199,133 | 31,303,253 | 104,121 |
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