MIOX myo-inositol oxygenase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 48 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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52 |
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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
Locus Zoom
Variants
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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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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 |
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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 |
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SYNONYM | ALDRL6 |
MIM | 606774 OMIM |
HGNC | HGNC:14522 HGNC |
Ensembl | ENSG00000100253 Ensembl |
AllianceGenome | HGNC:14522 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000395733.7 | hg38 | chr22 | 50,486,784 | 50,490,036 | 3,253 |
ENST00000395732.7 | hg38 | chr22 | 50,486,876 | 50,490,648 | 3,773 |
ENST00000216075.11 | hg38 | chr22 | 50,486,859 | 50,490,648 | 3,790 |
ENST00000395733.7 | hg19 | chr22 | 50,925,213 | 50,928,465 | 3,253 |
ENST00000216075.11 | hg19 | chr22 | 50,925,288 | 50,929,077 | 3,790 |
ENST00000395732.7 | hg19 | chr22 | 50,925,305 | 50,929,077 | 3,773 |
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