RNASEK ribonuclease K
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 24 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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24 |
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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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| Category | : |
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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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| Category | : |
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| Filtering | : |
| 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 |
|---|---|
| MIM | 617098 OMIM |
| HGNC | HGNC:33911 HGNC |
| Ensembl | ENSG00000219200 Ensembl |
| AllianceGenome | HGNC:33911 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000552039.2 | hg38 | chr17 | 7,012,632 | 7,014,532 | 1,901 |
| ENST00000552842.1 | hg38 | chr17 | 7,012,646 | 7,014,530 | 1,885 |
| ENST00000549393.2 | hg38 | chr17 | 7,012,648 | 7,014,519 | 1,872 |
| ENST00000570898.1 | hg38 | chr17 | 7,012,622 | 7,014,330 | 1,709 |
| ENST00000548577.5 | hg38 | chr17 | 7,012,417 | 7,014,532 | 2,116 |
| ENST00000593646.6 | hg38 | chr17 | 7,012,624 | 7,014,532 | 1,909 |
| ENST00000548577.1 | hg19 | chr17 | 6,915,736 | 6,917,851 | 2,116 |
| ENST00000402093.1 | hg19 | chr17 | 6,915,798 | 6,917,850 | 2,053 |
| ENST00000552321.1 | hg19 | chr17 | 6,916,550 | 6,917,839 | 1,290 |
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