DIO2 iodothyronine deiodinase 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| other | 0 | 4 |
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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16 |
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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
[No Data.]
Locus Zoom
Variants
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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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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | 5DII |
| SYNONYM | D2 |
| SYNONYM | DIOII |
| SYNONYM | SELENOY |
| SYNONYM | SelY |
| SYNONYM | TXDI2 |
| MIM | 601413 OMIM |
| HGNC | HGNC:2884 HGNC |
| Ensembl | ENSG00000211448 Ensembl |
| AllianceGenome | HGNC:2884 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000438257.9 | hg38 | chr14 | 80,197,526 | 80,211,504 | 13,979 |
| ENST00000557125.1 | hg38 | chr14 | 80,202,618 | 80,211,472 | 8,855 |
| ENST00000557010.5 | hg38 | chr14 | 80,197,530 | 80,231,054 | 33,525 |
| ENST00000438257.9 | hg19 | chr14 | 80,663,869 | 80,677,847 | 13,979 |
| ENST00000557010.5 | hg19 | chr14 | 80,663,873 | 80,697,397 | 33,525 |
| ENST00000557125.1 | hg19 | chr14 | 80,668,961 | 80,677,815 | 8,855 |
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