MOCS1 Chromosome 6

Molybdenum cofactor synthesis 1
110 variants 110 Health Risk

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What This Gene Does
Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017]
Gene Info
Gene Group
Radical S-adenosylmethionine domain containing
Locus Type
gene with protein product
Location
6p21.2
Ensembl
ENSG00000124615
Associated Conditions (10)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Inborn genetic diseases
MOCS1-related disorder
Intellectual disability
Glioma susceptibility 1
Hepatocellular carcinoma
Combined molybdoflavoprotein enzyme deficiency
Thyroid cancer
nonmedullary
1
Key Variants
RS104893970
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Health Risk
RS111640560
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Health Risk
RS112994296
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Health Risk
RS113678603
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Health Risk
RS116035280
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Health Risk
RS1208715055
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Health Risk
RS1260936028
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Health Risk
RS138822116
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Health Risk
RS140243105
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Intellectual disability, Inborn genetic diseases
Health Risk
RS142478972
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Glioma susceptibility 1
Health Risk
RS143912353
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Health Risk
RS145146059
Conflicting classifications of pathogenicity
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Health Risk
All Variants (110)
RSID Category Clinical Significance Conditions
RS104893970 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS111640560 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS112994296 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS113678603 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS116035280 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1208715055 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1260936028 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS138822116 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS140243105 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Intellectual disability, Inborn genetic diseases
RS142478972 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Glioma susceptibility 1
RS143912353 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS145146059 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS146944225 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS148579886 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Intellectual disability, Inborn genetic diseases
RS149233109 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS150131853 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS199797027 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS200316862 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS200764011 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS201889779 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS368402544 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS368776652 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS370411582 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS375882259 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS377167949 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS377424990 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS377628500 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS45487695 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS532400782 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases
RS745789021 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS746138504 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS752653792 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS757431407 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Inborn genetic diseases
RS760690355 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS762810343 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS766980859 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS769669172 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS771259156 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS779592342 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS866399151 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Intellectual disability, Combined molybdoflavoprotein enzyme deficiency
RS1025583289 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS104893969 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1275613358 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1285930895 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1562085332 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2149398883 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482274768 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482284043 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482284575 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS2482284914 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
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