HMOX1 heme oxygenase 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 30 |
Likely pathogenic | 0 | 10 |
Benign | 0 | 24 |
Likely benign | 0 | 302 |
Conflicting classifications of pathogenicity | 0 | 6 |
Uncertain significance | 0 | 166 |
Ranking
ClinVar | |
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0 |
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0 |
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38 |
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484 |
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4 |
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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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 | HMOX1D |
SYNONYM | HO-1 |
SYNONYM | HSP32 |
SYNONYM | bK286B10 |
MIM | 141250 OMIM |
HGNC | HGNC:5013 HGNC |
Ensembl | ENSG00000100292 Ensembl |
AllianceGenome | HGNC:5013 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000216117.9 | hg38 | chr22 | 35,381,096 | 35,394,207 | 13,112 |
ENST00000679074.1 | hg38 | chr22 | 35,381,096 | 35,394,207 | 13,112 |
ENST00000677931.1 | hg38 | chr22 | 35,381,096 | 35,394,207 | 13,112 |
ENST00000216117.9 | hg19 | chr22 | 35,777,089 | 35,790,200 | 13,112 |
ENST00000677931.1 | hg19 | chr22 | 35,777,089 | 35,790,200 | 13,112 |
ENST00000679074.1 | hg19 | chr22 | 35,777,089 | 35,790,200 | 13,112 |
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