ENOX2 ecto-NOX disulfide-thiol exchanger 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
not provided | 6 | 0 |
Uncertain significance | 0 | 40 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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46 |
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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
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 |
Search Word
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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Search word | : | |
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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 | APK1 |
SYNONYM | COVA1 |
SYNONYM | tNOX |
MIM | 300282 OMIM |
HGNC | HGNC:2259 HGNC |
Ensembl | ENSG00000165675 Ensembl |
AllianceGenome | HGNC:2259 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000394363.6 | hg38 | chrX | 130,622,325 | 130,903,209 | 280,885 |
ENST00000714528.1 | hg38 | chrX | 130,623,904 | 130,903,227 | 279,324 |
ENST00000714529.1 | hg38 | chrX | 130,623,904 | 130,903,227 | 279,324 |
ENST00000338144.8 | hg38 | chrX | 130,622,325 | 130,903,209 | 280,885 |
ENST00000686943.1 | hg38 | chrX | 130,623,914 | 130,903,230 | 279,317 |
ENST00000370935.5 | hg38 | chrX | 130,623,369 | 130,903,234 | 279,866 |
ENST00000370927.5 | hg38 | chrX | 130,623,381 | 130,709,313 | 85,933 |
ENST00000338144.8 | hg19 | chrX | 129,756,299 | 130,037,183 | 280,885 |
ENST00000394363.6 | hg19 | chrX | 129,756,299 | 130,037,183 | 280,885 |
ENST00000370935.5 | hg19 | chrX | 129,757,343 | 130,037,208 | 279,866 |
ENST00000370927.5 | hg19 | chrX | 129,757,355 | 129,843,287 | 85,933 |
ENST00000714528.1 | hg19 | chrX | 129,757,878 | 130,037,201 | 279,324 |
ENST00000714529.1 | hg19 | chrX | 129,757,878 | 130,037,201 | 279,324 |
ENST00000686943.1 | hg19 | chrX | 129,757,888 | 130,037,204 | 279,317 |
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