RECQL Chromosome 12
RecQ like helicase
Upload your DNA to see your personal genotypes for variants in RECQL.
What This Gene Does
The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
RecQ like helicases
Locus Type
gene with protein product
Location
12p12.1
Ensembl
ENSG00000004700
Associated Conditions (8)
Hereditary cancer-predisposing syndrome
RECON progeroid syndrome
Hereditary cancer
RECQL-related disorder
Hereditary breast ovarian cancer syndrome
Seizure
Gastric cancer
Malignant neoplastic disease
Key Variants
RS1010112210
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1158542687
Conflicting classifications of pathogenicity
RECON progeroid syndrome, RECON progeroid syndrome
Health Risk
RS1369932572
Conflicting classifications of pathogenicity
Health Risk
RS138278747
Conflicting classifications of pathogenicity
Hereditary cancer, RECQL-related disorder, RECON progeroid syndrome
Health Risk
RS142038240
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, RECON progeroid syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS144313838
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, RECQL-related disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS145067169
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, RECQL-related disorder, RECON progeroid syndrome
Health Risk
RS146077019
Conflicting classifications of pathogenicity
Hereditary cancer, RECON progeroid syndrome, Hereditary cancer
Health Risk
RS146924988
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, RECQL-related disorder, RECON progeroid syndrome
Health Risk
RS149537312
Conflicting classifications of pathogenicity
Health Risk
RS149763880
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, RECQL-related disorder, Hereditary cancer-predisposing syndrome
Health Risk
RS149937760
Conflicting classifications of pathogenicity
RECQL-related disorder, RECQL-related disorder
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS772188113 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774302679 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777214281 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer, RECON progeroid syndrome, Hereditary cancer |
| RS779099686 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS929469507 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer, Hereditary cancer |
| RS948132339 | Health Risk | Conflicting classifications of pathogenicity | RECQL-related disorder, RECQL-related disorder |
| RS970717805 | Health Risk | Conflicting classifications of pathogenicity | RECON progeroid syndrome, RECON progeroid syndrome |
| RS996086612 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1220859536 | Health Risk | Likely pathogenic | Malignant neoplastic disease, Malignant neoplastic disease |
| RS1565569139 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591973610 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591981379 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591981391 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1591988737 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2137339472 | Health Risk | Likely pathogenic | — |
| RS2540293929 | Health Risk | Likely pathogenic | — |
| RS756434860 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |