OSBPL5 oxysterol binding protein like 5
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 22 |
Likely benign | 0 | 12 |
not provided | 1 | 0 |
Uncertain significance | 0 | 146 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
180 |
![]() |
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
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
|
Category | : |
|
Search word | : | |
Filtering | : |
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
|
Category | : |
|
Search word | : | |
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
|
Category | : |
|
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 | OBPH1 |
SYNONYM | ORP5 |
MIM | 606733 OMIM |
HGNC | HGNC:16392 HGNC |
Ensembl | ENSG00000021762 Ensembl |
AllianceGenome | HGNC:16392 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000348039.9 | hg38 | chr11 | 3,088,001 | 3,165,352 | 77,352 |
ENST00000263650.12 | hg38 | chr11 | 3,087,107 | 3,165,310 | 78,204 |
ENST00000478260.5 | hg38 | chr11 | 3,087,116 | 3,094,879 | 7,764 |
ENST00000389989.7 | hg38 | chr11 | 3,087,121 | 3,165,300 | 78,180 |
ENST00000525498.5 | hg38 | chr11 | 3,087,906 | 3,126,608 | 38,703 |
ENST00000263650.12 | hg19 | chr11 | 3,108,337 | 3,186,540 | 78,204 |
ENST00000478260.5 | hg19 | chr11 | 3,108,346 | 3,116,109 | 7,764 |
ENST00000389989.7 | hg19 | chr11 | 3,108,351 | 3,186,530 | 78,180 |
ENST00000525498.5 | hg19 | chr11 | 3,109,136 | 3,147,838 | 38,703 |
ENST00000348039.9 | hg19 | chr11 | 3,109,231 | 3,186,582 | 77,352 |
Genome browser