RAG1 Chromosome 11
Recombination activating 1
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What This Gene Does
The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|RAG transposon derived genes"
Locus Type
gene with protein product
Location
11p12
Ensembl
ENSG00000166349
Associated Conditions (20)
Severe combined immunodeficiency
autosomal recessive
T cell-negative
B cell-negative
NK cell-positive
Combined immunodeficiency with skin granulomas
Combined immunodeficiency due to partial RAG1 deficiency
Histiocytic medullary reticulosis
RAG1-related disorder
Inherited Immunodeficiency Diseases
Microcephaly
Pelizaeus-Merzbacher disease
Inborn genetic diseases
Severe combined immunodeficiency disease
Recombinase activating gene 1 deficiency
See cases
Tumor predisposition syndrome 3
Thyroid cancer
nonmedullary
1
Key Variants
RS104894298
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS1376996089
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS139113046
Conflicting classifications of pathogenicity
Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive
Health Risk
RS141560248
Conflicting classifications of pathogenicity
Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive
Health Risk
RS143969029
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS146457887
Conflicting classifications of pathogenicity
Inherited Immunodeficiency Diseases, Microcephaly, Combined immunodeficiency with skin granulomas
Health Risk
RS148288583
Conflicting classifications of pathogenicity
Histiocytic medullary reticulosis, Severe combined immunodeficiency, autosomal recessive
Health Risk
RS1554944856
Conflicting classifications of pathogenicity
Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive
Health Risk
RS1564990390
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS199474687
Conflicting classifications of pathogenicity
Severe combined immunodeficiency, autosomal recessive, T cell-negative
Health Risk
RS199474690
Conflicting classifications of pathogenicity
Health Risk
RS201779957
Conflicting classifications of pathogenicity
Histiocytic medullary reticulosis, Severe combined immunodeficiency, autosomal recessive
Health Risk
All Variants (170)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199776076 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS2133292794 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2133298263 | Health Risk | Pathogenic/Likely pathogenic | Histiocytic medullary reticulosis, Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency with skin granulomas |
| RS2494750488 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS2494752082 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS2494752351 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency, autosomal recessive |
| RS2494752916 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency, autosomal recessive |
| RS2494760363 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency, autosomal recessive |
| RS748296558 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS754502950 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS755551812 | Health Risk | Pathogenic/Likely pathogenic | RAG1-related disorder, RAG1-related disorder |
| RS758288006 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS760816389 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency due to partial RAG1 deficiency, Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency |
| RS764443382 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS764981110 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS769349662 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency, autosomal recessive |
| RS770771227 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency, autosomal recessive |
| RS773194976 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency due to partial RAG1 deficiency, Severe combined immunodeficiency, autosomal recessive |
| RS878853004 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |
| RS991089005 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency, autosomal recessive, T cell-negative |