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Gene

DCLRE1C

DNA cross-link repair 1C

Summary

Cytogenetic location
10p13
Coordinates
Chromosome 10: 14,904,613–14,954,096 (GRCh38)
Exons
14 exons across 49.5 kb
Protein
692 amino acids
Inheritance
Autosomal recessive
Also known as
ARTEMIS, FLJ11360, SNM1C, A-SCID
Previous symbols
SCIDA
MANE Select transcript
ENST00000378278.7NM_001033855.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • DNA Repair Disease

    • Autosomal recessive

      A disease that has its basis in the disruption of DNA repair.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

  • Severe Combined Immunodeficiency

    • Autosomal recessive

      Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

Broader groupings

  • Other Inborn Errors of Immunity

    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How DCLRE1C is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 10, with a bracket where DCLRE1C sits. DCLRE1C and 12 genes near it on chromosome 10, from 14,429,355 to 15,429,354.Chromosome 1010p13p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.314.6 Mb14.8 Mb15 Mb15.2 Mb15.4 MbFRMD4A: 13,643,706–14,462,142, reverse strandFRMD4AFAM107B: 14,518,557–14,774,897, reverse strandFAM107BCDNF: 14,817,775–14,838,575, reverse strandCDNFHSPA14: 14,838,164–14,871,852, forward strandHSPA14MSANTD7: 14,838,164–14,846,999, forward strandMSANTD7SUV39H2: 14,878,323–14,906,331, forward strandSUV39H2DCLRE1C: 14,904,613–14,954,096, reverse strandDCLRE1CMEIG1: 14,954,190–14,988,050, forward strandMEIG1OLAH: 15,032,227–15,073,853, forward strandOLAHACBD7: 15,073,038–15,088,802, reverse strandACBD7RPP38: 15,097,073–15,139,818, forward strandRPP38NMT2: 15,102,584–15,168,724, reverse strandNMT2FAM171A1: 15,211,324–15,371,309, reverse strandFAM171A1Diagram of DCLRE1C: 14 exons on the reverse strand of chromosome 10Exon 14: 53 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 5 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 6 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 5 known disease-causing sitesExon 14: 14,904,613–14,909,330, 4,718 bases. 1 variant with a page in exon 14. List themExon 13: 14,919,738–14,919,832, 95 bases. 1 variant with a page in exon 13. List themExon 12: 14,922,981–14,923,069, 89 basesExon 11: 14,926,843–14,926,897, 55 basesExon 10: 14,928,016–14,928,152, 137 basesExon 9: 14,932,854–14,932,955, 102 basesExon 8: 14,934,380–14,934,520, 141 bases. 2 variants with a page in exon 8. List themExon 7: 14,934,703–14,934,775, 73 bases. 1 variant with a page in exon 7. List themExon 6: 14,935,463–14,935,564, 102 bases. 2 variants with a page in exon 6. List themExon 5: 14,936,538–14,936,593, 56 bases. 3 variants with a page in exon 5. List themExon 4: 14,939,810–14,939,869, 60 basesExon 3: 14,945,105–14,945,189, 85 bases. 4 variants with a page in exon 3. List themExon 2: 14,949,036–14,949,087, 52 bases. 1 variant with a page in exon 2. List themExon 1: 14,953,902–14,954,096, 195 bases. 5 variants with a page in exon 1. List them141210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6 kb of the gene's 49.5 kb; 2,079 of those bases code for the protein.

How a genome test reads DCLRE1C

149

positions in DCLRE1C where ClinVar classes a change as pathogenic or likely pathogenic

58 of them (39%) fall in regions short reads find hard.

  • Low mappability (7 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (58 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 49.5 kb of DCLRE1C, introns included, not only the 6 kb of exons.

Variants with a page (22)

The DCLRE1C variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A28Pc.82G>CExon 114,953,929Likely pathogenic3 stars out of 4 reviewed by expert panel
c.109+1G>TIntron 114,953,901Pathogenic3 stars out of 4 reviewed by expert panel
c.161+2T>GIntron 214,949,034Pathogenic3 stars out of 4 reviewed by expert panel
C116Rc.346T>CExon 514,936,554Likely pathogenic3 stars out of 4 reviewed by expert panel
D136Nc.406G>AExon 614,935,521Likely pathogenic3 stars out of 4 reviewed by expert panel
G118Xc.352G>TExon 514,936,548Pathogenic3 stars out of 4 reviewed by expert panel
G135Ec.404G>AExon 614,935,523Likely pathogenic3 stars out of 4 reviewed by expert panel
H35Dc.103C>GExon 114,953,908Pathogenic3 stars out of 4 reviewed by expert panel
I16Tc.47T>CExon 114,953,964Likely pathogenic3 stars out of 4 reviewed by expert panel
L47Xc.140T>AExon 214,949,057Likely pathogenic3 stars out of 4 reviewed by expert panel

See all 22 DCLRE1C variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). DCLRE1C gene: DNA cross-link repair 1C. Retrieved 16 October 2026, from https://dantelabs.com/genes/dclre1c

Vancouver

Dante Labs. DCLRE1C gene: DNA cross-link repair 1C [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dclre1c

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