SLX4 Chromosome 16

SLX4 structure-specific endonuclease subunit
224 variants 224 Health Risk

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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
RS150712805 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, SLX4-related disorder
RS151105762 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, SLX4-related disorder, Fanconi anemia complementation group P
RS1555449966 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS1596514559 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P
RS181942292 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS199592185 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P
RS200013924 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS200310925 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, SLX4-related disorder, Inborn genetic diseases
RS200319106 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Inborn genetic diseases
RS200354014 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P
RS200742809 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, SLX4-related disorder
RS200807331 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS201192909 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Thyroid cancer
RS201211891 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS201533738 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS201582780 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS2040576760 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS2040686112 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2151131241 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS370775954 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, SLX4-related disorder
RS371401752 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS372264472 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS373081094 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS373300793 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS374004875 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, SLX4-related disorder, Fanconi anemia
RS374056556 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS374755757 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS376133540 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Inborn genetic diseases
RS376641868 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS377066518 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS377500336 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS527904726 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS536289991 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS540288743 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P
RS551538592 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS553750741 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS560381786 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P
RS569225834 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS569591337 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS570382990 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Inborn genetic diseases
RS574844562 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS73505420 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, SLX4-related disorder
RS745508761 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer, Fanconi anemia
RS746155183 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS746178364 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS748897456 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS75184268 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS756448789 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS756720856 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P
RS757128699 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia complementation group P
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