UNG uracil DNA glycosylase
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 22 |
Likely pathogenic | 0 | 8 |
Benign | 0 | 44 |
Likely benign | 0 | 190 |
Conflicting classifications of pathogenicity | 0 | 20 |
Uncertain significance | 0 | 250 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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58 |
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450 |
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4 |
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 |
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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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SYNONYM | DGU |
SYNONYM | HIGM4 |
SYNONYM | HIGM5 |
SYNONYM | UDG |
SYNONYM | UNG1 |
SYNONYM | UNG15 |
SYNONYM | UNG2 |
MIM | 191525 OMIM |
HGNC | HGNC:12572 HGNC |
Ensembl | ENSG00000076248 Ensembl |
AllianceGenome | HGNC:12572 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000699561.1 | hg38 | chr12 | 109,098,172 | 109,105,501 | 7,330 |
ENST00000699562.1 | hg38 | chr12 | 109,098,172 | 109,110,961 | 12,790 |
ENST00000699563.1 | hg38 | chr12 | 109,098,172 | 109,126,725 | 28,554 |
ENST00000699560.1 | hg38 | chr12 | 109,098,161 | 109,110,956 | 12,796 |
ENST00000242576.7 | hg38 | chr12 | 109,097,597 | 109,110,992 | 13,396 |
ENST00000336865.6 | hg38 | chr12 | 109,098,118 | 109,110,975 | 12,858 |
ENST00000242576.7 | hg19 | chr12 | 109,535,402 | 109,548,797 | 13,396 |
ENST00000336865.6 | hg19 | chr12 | 109,535,923 | 109,548,780 | 12,858 |
ENST00000699560.1 | hg19 | chr12 | 109,535,966 | 109,548,761 | 12,796 |
ENST00000699561.1 | hg19 | chr12 | 109,535,977 | 109,543,306 | 7,330 |
ENST00000699562.1 | hg19 | chr12 | 109,535,977 | 109,548,766 | 12,790 |
ENST00000699563.1 | hg19 | chr12 | 109,535,977 | 109,564,530 | 28,554 |
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