Gene entry
DCLRE1C
DNA cross-link repair 1C
- Chromosome
- 10
- Cytoband
- 10p13
- Variants (rsID)
- 23
DCLRE1C is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10p13). Its official name is “DNA cross-link repair 1C”. The reference table lists 23 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs12768894Benignsingle nucleotide variantHistiocytic medullary reticulosis|Severe combined immunodeficiency due to DCLRE1C deficiency
- rs41298896Benignsingle nucleotide variantHistiocytic medullary reticulosis|Severe combined immunodeficiency due to DCLRE1C deficiency|Severe combined immunodeficiency, athabascan-type
- rs61749163Benignsingle nucleotide variantHistiocytic medullary reticulosis|Severe combined immunodeficiency due to DCLRE1C deficiency
- rs41297018Conflicting interpretationssingle nucleotide variantSevere combined immunodeficiency due to DCLRE1C deficiency|Histiocytic medullary reticulosis
- rs121908156Pathogenicsingle nucleotide variantSevere combined immunodeficiency due to DCLRE1C deficiency|Severe combined immunodeficiency due to DCLRE1C deficiency|Histiocytic medullary reticulosis|Histiocytic medullary reticulosis
- rs121908157Pathogenicsingle nucleotide variantSevere combined immunodeficiency, athabascan-type|Severe combined immunodeficiency due to DCLRE1C deficiency
- rs115250914Uncertain significancesingle nucleotide variantSevere combined immunodeficiency due to DCLRE1C deficiency|Histiocytic medullary reticulosis
- rs147013097Uncertain significancesingle nucleotide variantSevere combined immunodeficiency due to DCLRE1C deficiency|Severe combined immunodeficiency, athabascan-type
- rs182977883Uncertain significancesingle nucleotide variant
- rs41299658Uncertain significancesingle nucleotide variantHistiocytic medullary reticulosis|Severe combined immunodeficiency due to DCLRE1C deficiency|Severe combined immunodeficiency, athabascan-type
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.
