SNX5 sorting nexin 5
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 46 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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46 |
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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 |
Search Word
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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Category | : |
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Search word | : | |
Filtering | : |
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 |
---|---|
MIM | 605937 OMIM |
HGNC | HGNC:14969 HGNC |
Ensembl | ENSG00000089006 Ensembl |
AllianceGenome | HGNC:14969 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000606602.1 | hg38 | chr20 | 17,967,688 | 17,968,785 | 1,098 |
ENST00000606557.1 | hg38 | chr20 | 17,967,688 | 17,968,774 | 1,087 |
ENST00000486039.1 | hg38 | chr20 | 17,968,108 | 17,968,794 | 687 |
ENST00000377768.7 | hg38 | chr20 | 17,941,597 | 17,968,980 | 27,384 |
ENST00000481323.1 | hg38 | chr20 | 17,967,919 | 17,968,811 | 893 |
ENST00000377759.9 | hg38 | chr20 | 17,941,600 | 17,968,794 | 27,195 |
ENST00000377768.7 | hg19 | chr20 | 17,922,241 | 17,949,623 | 27,383 |
ENST00000377759.9 | hg19 | chr20 | 17,922,244 | 17,949,437 | 27,194 |
ENST00000481323.1 | hg19 | chr20 | 17,948,562 | 17,949,454 | 893 |
ENST00000486039.1 | hg19 | chr20 | 17,948,751 | 17,949,437 | 687 |
ENST00000606557.1 | hg19 | chr20 | 17,948,331 | 17,949,417 | 1,087 |
ENST00000606602.1 | hg19 | chr20 | 17,948,331 | 17,949,428 | 1,098 |
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