ENDOV endonuclease V
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Uncertain significance | 0 | 50 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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52 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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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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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MIM | 619821 OMIM |
HGNC | HGNC:26640 HGNC |
Ensembl | ENSG00000173818 Ensembl |
AllianceGenome | HGNC:26640 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000523999.5 | hg38 | chr17 | 80,415,178 | 80,420,533 | 5,356 |
ENST00000517795.5 | hg38 | chr17 | 80,415,452 | 80,438,086 | 22,635 |
ENST00000522751.5 | hg38 | chr17 | 80,415,315 | 80,430,324 | 15,010 |
ENST00000323854.9 | hg38 | chr17 | 80,415,184 | 80,430,343 | 15,160 |
ENST00000518644.5 | hg38 | chr17 | 80,415,469 | 80,424,348 | 8,880 |
ENST00000518901.5 | hg38 | chr17 | 80,415,487 | 80,438,082 | 22,596 |
ENST00000518907.5 | hg38 | chr17 | 80,415,458 | 80,438,086 | 22,629 |
ENST00000520284.5 | hg38 | chr17 | 80,415,452 | 80,438,082 | 22,631 |
ENST00000517295.6 | hg38 | chr17 | 80,415,669 | 80,430,152 | 14,484 |
ENST00000518137.6 | hg38 | chr17 | 80,415,167 | 80,438,086 | 22,920 |
ENST00000520367.5 | hg38 | chr17 | 80,415,167 | 80,438,081 | 22,915 |
ENST00000517295.6 | hg19 | chr17 | 78,389,469 | 78,403,952 | 14,484 |
ENST00000517795.5 | hg19 | chr17 | 78,389,252 | 78,411,886 | 22,635 |
ENST00000518644.5 | hg19 | chr17 | 78,389,269 | 78,398,148 | 8,880 |
ENST00000518901.5 | hg19 | chr17 | 78,389,287 | 78,411,882 | 22,596 |
ENST00000518907.5 | hg19 | chr17 | 78,389,258 | 78,411,886 | 22,629 |
ENST00000520284.5 | hg19 | chr17 | 78,389,252 | 78,411,882 | 22,631 |
ENST00000323854.9 | hg19 | chr17 | 78,388,984 | 78,404,143 | 15,160 |
ENST00000520367.5 | hg19 | chr17 | 78,388,967 | 78,411,881 | 22,915 |
ENST00000518137.6 | hg19 | chr17 | 78,388,967 | 78,411,886 | 22,920 |
ENST00000523999.5 | hg19 | chr17 | 78,388,978 | 78,394,333 | 5,356 |
ENST00000522751.5 | hg19 | chr17 | 78,389,115 | 78,404,124 | 15,010 |
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