DUOX2 dual oxidase 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 76 | 260 |
Likely pathogenic | 0 | 152 |
Benign | 0 | 184 |
Likely benign | 0 | 1,602 |
Conflicting classifications of pathogenicity | 0 | 218 |
Uncertain significance | 0 | 1,408 |
Ranking
ClinVar | |
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0 |
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0 |
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362 |
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3,166 |
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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 | LNOX2 |
SYNONYM | NOXEF2 |
SYNONYM | P138-TOX |
SYNONYM | TDH6 |
SYNONYM | THOX2 |
MIM | 606759 OMIM |
HGNC | HGNC:13273 HGNC |
Ensembl | ENSG00000140279 Ensembl |
AllianceGenome | HGNC:13273 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000389039.11 | hg38 | chr15 | 45,092,650 | 45,114,172 | 21,523 |
ENST00000603300.1 | hg38 | chr15 | 45,092,655 | 45,114,161 | 21,507 |
ENST00000389039.11 | hg19 | chr15 | 45,384,848 | 45,406,370 | 21,523 |
ENST00000603300.1 | hg19 | chr15 | 45,384,853 | 45,406,359 | 21,507 |
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