ALOX12B arachidonate 12-lipoxygenase, 12R type
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 244 |
| Likely pathogenic | 0 | 50 |
| Benign | 0 | 74 |
| Likely benign | 0 | 46 |
| Conflicting classifications of pathogenicity | 0 | 32 |
| not provided | 11 | 0 |
| Uncertain significance | 0 | 208 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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78 |
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334 |
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176 |
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
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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 | |||||||||||
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | 12R-LOX |
| SYNONYM | ARCI2 |
| MIM | 603741 OMIM |
| HGNC | HGNC:430 HGNC |
| Ensembl | ENSG00000179477 Ensembl |
| AllianceGenome | HGNC:430 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000647874.1 | hg38 | chr17 | 8,072,636 | 8,087,716 | 15,081 |
| ENST00000647874.1 | hg19 | chr17 | 7,975,954 | 7,991,034 | 15,081 |
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