DCLRE1B Chromosome 1
DNA cross-link repair 1B
Upload your DNA to see your personal genotypes for variants in DCLRE1B.
What This Gene Does
DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
DNA cross-link repair family
Locus Type
gene with protein product
Location
1p13.2
Ensembl
ENSG00000118655
Associated Conditions (5)
Hoyeraal-Hreidarsson syndrome
Autosomal recessive dyskeratosis congenita
Fanconi anemia complementation group C
Dyskeratosis congenita
autosomal recessive 8
Key Variants
RS146482651
Conflicting classifications of pathogenicity
Hoyeraal-Hreidarsson syndrome, Autosomal recessive dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome
Health Risk
RS749431578
Conflicting classifications of pathogenicity
Autosomal recessive dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Autosomal recessive dyskeratosis congenita
Health Risk
RS201357602
Pathogenic
Fanconi anemia complementation group C, Fanconi anemia complementation group C
Health Risk
RS201626532
Pathogenic
Dyskeratosis congenita, autosomal recessive 8, Dyskeratosis congenita
Health Risk
RS763252884
Pathogenic
Dyskeratosis congenita, autosomal recessive 8, Dyskeratosis congenita
Health Risk
RS769100574
Pathogenic
Dyskeratosis congenita, autosomal recessive 8, Dyskeratosis congenita
Health Risk
RS773744466
Pathogenic
Fanconi anemia complementation group C, Fanconi anemia complementation group C
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146482651 | Health Risk | Conflicting classifications of pathogenicity | Hoyeraal-Hreidarsson syndrome, Autosomal recessive dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome |
| RS749431578 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Autosomal recessive dyskeratosis congenita |
| RS201357602 | Health Risk | Pathogenic | Fanconi anemia complementation group C, Fanconi anemia complementation group C |
| RS201626532 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 8, Dyskeratosis congenita |
| RS763252884 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 8, Dyskeratosis congenita |
| RS769100574 | Health Risk | Pathogenic | Dyskeratosis congenita, autosomal recessive 8, Dyskeratosis congenita |
| RS773744466 | Health Risk | Pathogenic | Fanconi anemia complementation group C, Fanconi anemia complementation group C |