NUP62 nucleoporin 62
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 32 |
Likely benign | 0 | 98 |
Conflicting classifications of pathogenicity | 0 | 12 |
Uncertain significance | 0 | 194 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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64 |
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256 |
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2 |
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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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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Category | : |
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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 | IBSN |
SYNONYM | SNDI |
SYNONYM | p62 |
MIM | 605815 OMIM |
HGNC | HGNC:8066 HGNC |
Ensembl | ENSG00000213024 Ensembl |
AllianceGenome | HGNC:8066 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000700478.1 | hg38 | chr19 | 49,907,713 | 49,929,475 | 21,763 |
ENST00000700473.1 | hg38 | chr19 | 49,906,851 | 49,929,518 | 22,668 |
ENST00000700477.1 | hg38 | chr19 | 49,907,706 | 49,929,529 | 21,824 |
ENST00000700476.1 | hg38 | chr19 | 49,907,706 | 49,929,504 | 21,799 |
ENST00000700475.1 | hg38 | chr19 | 49,907,706 | 49,929,475 | 21,770 |
ENST00000700474.1 | hg38 | chr19 | 49,906,933 | 49,929,531 | 22,599 |
ENST00000596217.1 | hg38 | chr19 | 49,908,106 | 49,929,504 | 21,399 |
ENST00000599788.2 | hg38 | chr19 | 49,907,706 | 49,929,504 | 21,799 |
ENST00000600583.6 | hg38 | chr19 | 49,907,706 | 49,929,504 | 21,799 |
ENST00000596437.6 | hg38 | chr19 | 49,906,953 | 49,929,531 | 22,579 |
ENST00000597029.6 | hg38 | chr19 | 49,907,638 | 49,929,496 | 21,859 |
ENST00000597723.5 | hg38 | chr19 | 49,908,105 | 49,929,475 | 21,371 |
ENST00000352066.8 | hg38 | chr19 | 49,906,825 | 49,929,504 | 22,680 |
ENST00000598301.2 | hg38 | chr19 | 49,907,706 | 49,929,500 | 21,795 |
ENST00000600935.2 | hg38 | chr19 | 49,906,866 | 49,929,531 | 22,666 |
ENST00000599560.6 | hg38 | chr19 | 49,907,709 | 49,929,764 | 22,056 |
ENST00000422090.2 | hg38 | chr19 | 49,906,825 | 49,929,744 | 22,920 |
ENST00000352066.8 | hg19 | chr19 | 50,410,082 | 50,432,761 | 22,680 |
ENST00000422090.2 | hg19 | chr19 | 50,410,082 | 50,433,001 | 22,920 |
ENST00000596217.1 | hg19 | chr19 | 50,411,363 | 50,432,761 | 21,399 |
ENST00000597723.5 | hg19 | chr19 | 50,411,362 | 50,432,732 | 21,371 |
ENST00000599560.6 | hg19 | chr19 | 50,410,966 | 50,433,021 | 22,056 |
ENST00000598301.2 | hg19 | chr19 | 50,410,963 | 50,432,757 | 21,795 |
ENST00000599788.2 | hg19 | chr19 | 50,410,963 | 50,432,761 | 21,799 |
ENST00000596437.6 | hg19 | chr19 | 50,410,210 | 50,432,788 | 22,579 |
ENST00000597029.6 | hg19 | chr19 | 50,410,895 | 50,432,753 | 21,859 |
ENST00000700476.1 | hg19 | chr19 | 50,410,963 | 50,432,761 | 21,799 |
ENST00000600583.6 | hg19 | chr19 | 50,410,963 | 50,432,761 | 21,799 |
ENST00000600935.2 | hg19 | chr19 | 50,410,123 | 50,432,788 | 22,666 |
ENST00000700473.1 | hg19 | chr19 | 50,410,108 | 50,432,775 | 22,668 |
ENST00000700474.1 | hg19 | chr19 | 50,410,190 | 50,432,788 | 22,599 |
ENST00000700475.1 | hg19 | chr19 | 50,410,963 | 50,432,732 | 21,770 |
ENST00000700477.1 | hg19 | chr19 | 50,410,963 | 50,432,786 | 21,824 |
ENST00000700478.1 | hg19 | chr19 | 50,410,970 | 50,432,732 | 21,763 |
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