LIG1 Chromosome 19
DNA ligase 1
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What This Gene Does
This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
"DNA ligases|Nucleotide excision repair"
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000105486
Associated Conditions (5)
Immunodeficiency 96
LIG1-related disorder
Sarcoma
Clear cell carcinoma of kidney
Thymoma
Key Variants
RS121434561
Conflicting classifications of pathogenicity
Immunodeficiency 96, Immunodeficiency 96
Health Risk
RS143797790
Conflicting classifications of pathogenicity
LIG1-related disorder, LIG1-related disorder
Health Risk
RS374214185
Conflicting classifications of pathogenicity
Immunodeficiency 96, Sarcoma, Clear cell carcinoma of kidney
Health Risk
RS571123414
Conflicting classifications of pathogenicity
Health Risk
RS2513978101
Likely pathogenic
Immunodeficiency 96, Immunodeficiency 96
Health Risk
RS121434560
Pathogenic
Immunodeficiency 96, Immunodeficiency 96
Health Risk
RS778319960
Pathogenic
Immunodeficiency 96, Immunodeficiency 96
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121434561 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 96, Immunodeficiency 96 |
| RS143797790 | Health Risk | Conflicting classifications of pathogenicity | LIG1-related disorder, LIG1-related disorder |
| RS374214185 | Health Risk | Conflicting classifications of pathogenicity | Immunodeficiency 96, Sarcoma, Clear cell carcinoma of kidney |
| RS571123414 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2513978101 | Health Risk | Likely pathogenic | Immunodeficiency 96, Immunodeficiency 96 |
| RS121434560 | Health Risk | Pathogenic | Immunodeficiency 96, Immunodeficiency 96 |
| RS778319960 | Health Risk | Pathogenic | Immunodeficiency 96, Immunodeficiency 96 |