SLX4 Chromosome 16
SLX4 structure-specific endonuclease subunit
Upload your DNA to see your personal genotypes for variants in SLX4.
What This Gene Does
This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"FA complementation groups|BTB domain containing|Zinc fingers UBZ4 CCHC-type"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000188827
Associated Conditions (21)
Fanconi anemia
Fanconi anemia complementation group P
Intellectual disability
SLX4-related disorder
Inborn genetic diseases
Fanconi anemia complementation group A
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer
Gastric cancer
Adrenocortical carcinoma
hereditary
Lung cancer
Thyroid cancer
nonmedullary
1
Familial cancer of breast
Olaparib response
Uterine corpus endometrial carcinoma
+1 more conditions
Key Variants
RS111405249
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
Health Risk
RS111738042
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group P, Intellectual disability
Health Risk
RS112687420
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS115866745
Conflicting classifications of pathogenicity
Fanconi anemia, SLX4-related disorder, Fanconi anemia complementation group P
Health Risk
RS1158728649
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS1235572029
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
Health Risk
RS1315121473
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS137976282
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia complementation group A
Health Risk
RS138798067
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
Health Risk
RS1390856264
Conflicting classifications of pathogenicity
Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P
Health Risk
RS139254595
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group P, SLX4-related disorder
Health Risk
RS139287784
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group P, SLX4-related disorder
Health Risk
All Variants (224)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781663547 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia, Fanconi anemia |
| RS878855162 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS941244697 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS1028935047 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia |
| RS1265030199 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS1267428175 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P |
| RS1315905872 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS1374549534 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia |
| RS1440022090 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia |
| RS1596520443 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group P, Fanconi anemia |
| RS200628199 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, SLX4-related disorder, Fanconi anemia complementation group P |
| RS2040719850 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P |
| RS2040788600 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS2151126006 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS2151133964 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS2151133987 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS2151139871 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P |
| RS748930384 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia |
| RS752720263 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia |
| RS757662453 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P |
| RS760126773 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia |
| RS761469284 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS763914156 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia |
| RS767631456 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia |