UVRAG UV radiation resistance associated
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 4 |
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 104 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
112 |
 |
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
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | DHTX |
| SYNONYM | VPS38 |
| SYNONYM | p63 |
| MIM | 602493 OMIM |
| HGNC | HGNC:12640 HGNC |
| Ensembl | ENSG00000198382 Ensembl |
| AllianceGenome | HGNC:12640 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000532130.1 | hg38 | chr11 | 75,980,060 | 76,141,783 | 161,724 |
| ENST00000531818.5 | hg38 | chr11 | 75,979,526 | 76,142,651 | 163,126 |
| ENST00000533454.5 | hg38 | chr11 | 75,930,860 | 76,141,500 | 210,641 |
| ENST00000528420.5 | hg38 | chr11 | 75,838,944 | 76,141,794 | 302,851 |
| ENST00000356136.8 | hg38 | chr11 | 75,815,210 | 76,144,232 | 329,023 |
| ENST00000356136.8 | hg19 | chr11 | 75,526,255 | 75,855,276 | 329,022 |
| ENST00000528420.5 | hg19 | chr11 | 75,549,989 | 75,852,838 | 302,850 |
| ENST00000533454.5 | hg19 | chr11 | 75,641,904 | 75,852,544 | 210,641 |
| ENST00000531818.5 | hg19 | chr11 | 75,690,570 | 75,853,695 | 163,126 |
| ENST00000532130.1 | hg19 | chr11 | 75,691,104 | 75,852,827 | 161,724 |
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