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
RS111405249 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS111738042 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Intellectual disability
RS112687420 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS115866745 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, SLX4-related disorder, Fanconi anemia complementation group P
RS1158728649 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1235572029 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS1315121473 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS137976282 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia complementation group A
RS138798067 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS1390856264 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P
RS139254595 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, SLX4-related disorder
RS139287784 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, SLX4-related disorder
RS139865448 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Inborn genetic diseases
RS140051968 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS140254478 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS140600202 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, SLX4-related disorder
RS1407754407 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS140872903 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS141567438 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS1415684146 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS141597706 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS141687678 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, SLX4-related disorder
RS142008398 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, SLX4-related disorder
RS142047326 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Inborn genetic diseases
RS142079276 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Inborn genetic diseases, Fanconi anemia
RS142205392 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS1423670990 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS143279888 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS1433489753 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Inborn genetic diseases
RS143694260 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Inborn genetic diseases
RS143831403 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS144273492 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS144326379 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS144614070 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group P
RS144832924 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS145137472 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS145527531 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Inborn genetic diseases
RS145533919 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS146054214 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS146532299 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS147315419 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS147492092 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group P
RS147826749 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, SLX4-related disorder
RS1478383926 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS148428054 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Inborn genetic diseases
RS1484366381 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, Fanconi anemia complementation group P
RS148547201 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS149117119 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
RS149126845 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia, Hereditary cancer
RS149584080 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P, Fanconi anemia
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