POLI DNA polymerase iota
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 78 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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82 |
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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
[No Data.]
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
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 | RAD30B |
| SYNONYM | RAD3OB |
| SYNONYM | eta2 |
| MIM | 605252 OMIM |
| HGNC | HGNC:9182 HGNC |
| Ensembl | ENSG00000101751 Ensembl |
| AllianceGenome | HGNC:9182 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000579534.6 | hg38 | chr18 | 54,269,517 | 54,298,234 | 28,718 |
| ENST00000406285.7 | hg38 | chr18 | 54,269,519 | 54,294,483 | 24,965 |
| ENST00000579434.5 | hg38 | chr18 | 54,269,567 | 54,294,724 | 25,158 |
| ENST00000579534.6 | hg19 | chr18 | 51,795,887 | 51,824,604 | 28,718 |
| ENST00000406285.7 | hg19 | chr18 | 51,795,889 | 51,820,853 | 24,965 |
| ENST00000579434.5 | hg19 | chr18 | 51,795,937 | 51,821,094 | 25,158 |
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