DNASE1L3 Chromosome 3
Deoxyribonuclease 1L3
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What This Gene Does
This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Associated Conditions (3)
Inborn genetic diseases
Autosomal systemic lupus erythematosus type 16
DNASE1L3-related disorder
Key Variants
RS1366701559
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149330798
Conflicting classifications of pathogenicity
Health Risk
RS373126531
Conflicting classifications of pathogenicity
Health Risk
RS770786986
Conflicting classifications of pathogenicity
Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16
Health Risk
RS2097405328
Likely pathogenic
Health Risk
RS2097405382
Likely pathogenic
Health Risk
RS2107373870
Likely pathogenic
Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16
Health Risk
RS2471321157
Likely pathogenic
Health Risk
RS1262446616
Pathogenic
Health Risk
RS1575496354
Pathogenic
Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16
Health Risk
RS2471306330
Pathogenic
Health Risk
RS2471306385
Pathogenic
Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1366701559 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149330798 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373126531 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS770786986 | Health Risk | Conflicting classifications of pathogenicity | Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16 |
| RS2097405328 | Health Risk | Likely pathogenic | — |
| RS2097405382 | Health Risk | Likely pathogenic | — |
| RS2107373870 | Health Risk | Likely pathogenic | Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16 |
| RS2471321157 | Health Risk | Likely pathogenic | — |
| RS1262446616 | Health Risk | Pathogenic | — |
| RS1575496354 | Health Risk | Pathogenic | Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16 |
| RS2471306330 | Health Risk | Pathogenic | — |
| RS2471306385 | Health Risk | Pathogenic | Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16 |
| RS1164270727 | Health Risk | Pathogenic/Likely pathogenic | Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16 |
| RS1575497576 | Health Risk | Pathogenic/Likely pathogenic | Autosomal systemic lupus erythematosus type 16, Autosomal systemic lupus erythematosus type 16 |
| RS751206379 | Health Risk | Pathogenic/Likely pathogenic | Autosomal systemic lupus erythematosus type 16, DNASE1L3-related disorder, Autosomal systemic lupus erythematosus type 16 |