Gene entry
LIG4
DNA ligase 4
- Chromosome
- 13
- Cytoband
- 13q33.3
- Variants (rsID)
- 16
LIG4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q33.3). Its official name is “DNA ligase 4”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs1805388Benignsingle nucleotide variantMultiple myeloma, resistance to|DNA ligase IV deficiency|Severe combined immunodeficiency due to DCLRE1C deficiency
- rs2232637Benignsingle nucleotide variantSevere combined immunodeficiency due to DCLRE1C deficiency|DNA ligase IV deficiency
- rs2232639Benignsingle nucleotide variantSevere combined immunodeficiency due to DCLRE1C deficiency|DNA ligase IV deficiency
- rs3093764Benignsingle nucleotide variantSevere combined immunodeficiency due to DCLRE1C deficiency|DNA ligase IV deficiency
- rs61731910Benignsingle nucleotide variantDNA ligase IV deficiency|Severe combined immunodeficiency due to DCLRE1C deficiency
- rs748385144Conflicting interpretationssingle nucleotide variantSevere combined immunodeficiency due to DCLRE1C deficiency|DNA ligase IV deficiency
- rs104894418Pathogenicsingle nucleotide variantDNA ligase IV deficiency
- rs104894419Pathogenicsingle nucleotide variantDNA ligase IV deficiency|Inborn genetic diseases|Multiple myeloma|DNA ligase IV deficiency
- rs772226399PathogenicDeletionLIG4-Related Disorders|DNA ligase IV deficiency
- rs146616552Uncertain significancesingle nucleotide variantDNA ligase IV deficiency
- rs188422094Uncertain significancesingle nucleotide variantDNA ligase IV deficiency|Severe combined immunodeficiency due to DCLRE1C deficiency
- rs199934893Uncertain significancesingle nucleotide variantDNA ligase IV deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.