LIG4 gene homepage

General information
Gene symbol LIG4
Gene name ligase IV, DNA, ATP-dependent
Chromosome 13
Chromosomal band q33-q34
Imprinted Unknown
Genomic reference LRG_79
Transcript reference NM_002312.3
Associated with diseases ID, LIG4 syndrome, myeloma, multiple, Severe combined immunodeficiency with sensitivity to ionizing radiation
Citation reference(s) -
Curators (1) M. Mahdi Motazacker
Total number of public variants reported 53
Unique public DNA variants reported 32
Individuals with public variants 14
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated March 23, 2020
Version LIG4:200323

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/LIG4
External URL Orphanet
LIG4base: Mutation registry for LIG4 syndrome
HGNC 6601
Entrez Gene 3981
PubMed articles LIG4
OMIM - Gene 601837
OMIM - Diseases LIG4 syndrome (syndrome, LIG4)
myeloma, multiple
Severe combined immunodeficiency with sensitivity to ionizing radiation
HGMD LIG4
GeneCards LIG4
GeneTests LIG4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011127 13 transcript variant 1 NM_002312.3 NP_002303.2 53


Copyright & disclaimer
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