LIG3 DNA ligase 3

Information
Symbol
LIG3
Type
protein-coding
Description
DNA ligase 3
Entrez Gene ID
3980
Genome
hg19
Position
chr17:33,307,531-33,336,762
Genome
hg38
Position
chr17:34,980,512-35,009,743
MIM
600940 OMIM
HGNC
HGNC:6600 HGNC
Ensembl
ENSG00000005156 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 2
Benign 0 34
Likely benign 0 38
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 104
Ranking
ClinVar
0
0
10
162
16
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
Category :
Search word :
Filtering :
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
Category :
Search word :
Filtering :
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
Category :
Search word :
Filtering :
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
TypeID
SYNONYM LIG2
SYNONYM LIG3alpha
SYNONYM MTDPS20
MIM 600940 OMIM
HGNC HGNC:6600 HGNC
Ensembl ENSG00000005156 Ensembl
AllianceGenome HGNC:6600
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000262327.9 hg38 chr17 34,980,546 35,003,172 22,627
ENST00000378526.9 hg38 chr17 34,980,512 35,009,743 29,232
ENST00000378526.9 hg19 chr17 33,307,531 33,336,762 29,232
ENST00000262327.9 hg19 chr17 33,307,565 33,330,191 22,627
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