LIG4 DNA ligase 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 8 | 140 |
Likely pathogenic | 0 | 36 |
Benign | 0 | 60 |
Likely benign | 0 | 472 |
Conflicting classifications of pathogenicity | 0 | 56 |
Uncertain significance | 0 | 624 |
Ranking
ClinVar | |
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0 |
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0 |
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188 |
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1,112 |
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8 |
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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Category | : |
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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 |
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SYNONYM | LIG4S |
MIM | 601837 OMIM |
HGNC | HGNC:6601 HGNC |
Ensembl | ENSG00000174405 Ensembl |
AllianceGenome | HGNC:6601 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000687822.1 | hg38 | chr13 | 108,207,462 | 108,217,266 | 9,805 |
ENST00000405925.2 | hg38 | chr13 | 108,207,439 | 108,218,368 | 10,930 |
ENST00000614526.2 | hg38 | chr13 | 108,207,446 | 108,215,563 | 8,118 |
ENST00000611712.4 | hg38 | chr13 | 108,207,439 | 108,215,535 | 8,097 |
ENST00000442234.6 | hg38 | chr13 | 108,207,442 | 108,215,536 | 8,095 |
ENST00000686913.1 | hg38 | chr13 | 108,207,462 | 108,215,367 | 7,906 |
ENST00000685338.1 | hg38 | chr13 | 108,207,648 | 108,215,575 | 7,928 |
ENST00000692222.1 | hg38 | chr13 | 108,207,460 | 108,218,331 | 10,872 |
ENST00000690127.1 | hg38 | chr13 | 108,208,377 | 108,215,387 | 7,011 |
ENST00000688455.1 | hg38 | chr13 | 108,207,460 | 108,218,339 | 10,880 |
ENST00000688595.1 | hg38 | chr13 | 108,207,508 | 108,218,301 | 10,794 |
ENST00000686204.1 | hg38 | chr13 | 108,208,178 | 108,218,349 | 10,172 |
ENST00000686095.1 | hg38 | chr13 | 108,207,462 | 108,215,186 | 7,725 |
ENST00000688396.1 | hg38 | chr13 | 108,207,462 | 108,218,301 | 10,840 |
ENST00000689762.1 | hg38 | chr13 | 108,207,442 | 108,215,554 | 8,113 |
ENST00000686926.1 | hg38 | chr13 | 108,207,938 | 108,215,567 | 7,630 |
ENST00000687164.1 | hg38 | chr13 | 108,207,462 | 108,215,409 | 7,948 |
ENST00000688529.1 | hg38 | chr13 | 108,207,462 | 108,215,401 | 7,940 |
ENST00000693040.1 | hg38 | chr13 | 108,208,533 | 108,215,523 | 6,991 |
ENST00000405925.2 | hg19 | chr13 | 108,859,787 | 108,870,716 | 10,930 |
ENST00000442234.6 | hg19 | chr13 | 108,859,790 | 108,867,884 | 8,095 |
ENST00000611712.4 | hg19 | chr13 | 108,859,787 | 108,867,883 | 8,097 |
ENST00000614526.2 | hg19 | chr13 | 108,859,794 | 108,867,911 | 8,118 |
ENST00000688529.1 | hg19 | chr13 | 108,859,810 | 108,867,749 | 7,940 |
ENST00000686204.1 | hg19 | chr13 | 108,860,526 | 108,870,697 | 10,172 |
ENST00000686926.1 | hg19 | chr13 | 108,860,286 | 108,867,915 | 7,630 |
ENST00000688455.1 | hg19 | chr13 | 108,859,808 | 108,870,687 | 10,880 |
ENST00000686095.1 | hg19 | chr13 | 108,859,810 | 108,867,534 | 7,725 |
ENST00000686913.1 | hg19 | chr13 | 108,859,810 | 108,867,715 | 7,906 |
ENST00000685338.1 | hg19 | chr13 | 108,859,996 | 108,867,923 | 7,928 |
ENST00000687164.1 | hg19 | chr13 | 108,859,810 | 108,867,757 | 7,948 |
ENST00000687822.1 | hg19 | chr13 | 108,859,810 | 108,869,614 | 9,805 |
ENST00000688396.1 | hg19 | chr13 | 108,859,810 | 108,870,649 | 10,840 |
ENST00000688595.1 | hg19 | chr13 | 108,859,856 | 108,870,649 | 10,794 |
ENST00000689762.1 | hg19 | chr13 | 108,859,790 | 108,867,902 | 8,113 |
ENST00000692222.1 | hg19 | chr13 | 108,859,808 | 108,870,679 | 10,872 |
ENST00000690127.1 | hg19 | chr13 | 108,860,725 | 108,867,735 | 7,011 |
ENST00000693040.1 | hg19 | chr13 | 108,860,881 | 108,867,871 | 6,991 |
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