DCLRE1C Chromosome 10
DNA cross-link repair 1C
Upload your DNA to see your personal genotypes for variants in DCLRE1C.
What This Gene Does
This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
DNA cross-link repair family
Locus Type
gene with protein product
Location
10p13
Ensembl
ENSG00000152457
Associated Conditions (15)
Histiocytic medullary reticulosis
Severe combined immunodeficiency due to DCLRE1C deficiency
Athabaskan severe combined immunodeficiency
DCLRE1C-related disorder
Inborn genetic diseases
Severe combined immunodeficiency disease
Thyroid cancer
nonmedullary
1
Ehlers-Danlos syndrome
kyphoscoliotic type 1
Aicardi-Goutieres syndrome 1
Colon adenocarcinoma
Severe combined immunodeficiency
partial
Key Variants
RS114767681
Conflicting classifications of pathogenicity
Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency
Health Risk
RS1190921257
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
Health Risk
RS140176235
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
Health Risk
RS143782439
Conflicting classifications of pathogenicity
Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
Health Risk
RS144654282
Conflicting classifications of pathogenicity
Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
Health Risk
RS146832860
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
Health Risk
RS147993236
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
Health Risk
RS1834728173
Conflicting classifications of pathogenicity
Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency
Health Risk
RS200693133
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency, Histiocytic medullary reticulosis
Health Risk
RS369509998
Conflicting classifications of pathogenicity
Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
Health Risk
RS369844484
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
Health Risk
RS373709012
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to DCLRE1C deficiency, DCLRE1C-related disorder, Severe combined immunodeficiency due to DCLRE1C deficiency
Health Risk
All Variants (167)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786200884 | Health Risk | Pathogenic | Severe combined immunodeficiency, partial, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS786205074 | Health Risk | Pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS886037925 | Health Risk | Pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS1346260747 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS1354336544 | Health Risk | Pathogenic/Likely pathogenic | Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency disease |
| RS1404214090 | Health Risk | Pathogenic/Likely pathogenic | Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis |
| RS1407251815 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS1460843145 | Health Risk | Pathogenic/Likely pathogenic | Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis |
| RS1589050343 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS1834759683 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS1839956628 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency disease, Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis |
| RS2130974126 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS2491628054 | Health Risk | Pathogenic/Likely pathogenic | Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis |
| RS2491636150 | Health Risk | Pathogenic/Likely pathogenic | Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency disease |
| RS2491775008 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS2492077470 | Health Risk | Pathogenic/Likely pathogenic | Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis |
| RS767758218 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency |