UBE2V1 ubiquitin conjugating enzyme E2 V1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
not provided | 1 | 0 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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2 |
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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
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 |
---|---|
SYNONYM | CIR1 |
SYNONYM | CROC-1 |
SYNONYM | CROC1 |
SYNONYM | UBE2V |
SYNONYM | UEV-1 |
SYNONYM | UEV1 |
SYNONYM | UEV1A |
MIM | 602995 OMIM |
HGNC | HGNC:12494 HGNC |
Ensembl | ENSG00000244687 Ensembl |
AllianceGenome | HGNC:12494 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000371674.8 | hg38 | chr20 | 50,081,124 | 50,113,150 | 32,027 |
ENST00000371677.7 | hg38 | chr20 | 50,081,124 | 50,115,954 | 34,831 |
ENST00000557021.5 | hg38 | chr20 | 50,081,124 | 50,113,198 | 32,075 |
ENST00000625172.3 | hg38 | chr20 | 50,081,124 | 50,113,198 | 32,075 |
ENST00000415862.6 | hg38 | chr20 | 50,081,124 | 50,115,954 | 34,831 |
ENST00000617119.4 | hg38 | chr20 | 50,081,124 | 50,113,198 | 32,075 |
ENST00000371657.9 | hg38 | chr20 | 50,081,124 | 50,113,139 | 32,016 |
ENST00000340309.7 | hg38 | chr20 | 50,081,124 | 50,115,954 | 34,831 |
ENST00000371657.9 | hg19 | chr20 | 48,697,661 | 48,729,676 | 32,016 |
ENST00000371674.8 | hg19 | chr20 | 48,697,661 | 48,729,687 | 32,027 |
ENST00000340309.7 | hg19 | chr20 | 48,697,661 | 48,732,491 | 34,831 |
ENST00000371677.7 | hg19 | chr20 | 48,697,661 | 48,732,491 | 34,831 |
ENST00000415862.6 | hg19 | chr20 | 48,697,661 | 48,732,491 | 34,831 |
ENST00000625172.3 | hg19 | chr20 | 48,697,661 | 48,729,735 | 32,075 |
ENST00000617119.4 | hg19 | chr20 | 48,697,661 | 48,729,735 | 32,075 |
ENST00000557021.5 | hg19 | chr20 | 48,697,661 | 48,729,735 | 32,075 |
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