Gene entry
MOCS2
molybdenum cofactor synthesis 2
- Chromosome
- 5
- Cytoband
- 5q11.2
- Variants (rsID)
- 7
MOCS2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q11.2). Its official name is “molybdenum cofactor synthesis 2”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs2233218Conflicting interpretationssingle nucleotide variantSulfite oxidase deficiency due to molybdenum cofactor deficiency type B
- rs398122797Likely pathogenicDeletionSulfite oxidase deficiency due to molybdenum cofactor deficiency type B|Abnormality of metabolism/homeostasis
- rs772575104Pathogenicsingle nucleotide variantSulfite oxidase deficiency due to molybdenum cofactor deficiency type B
- rs398122798Uncertain significanceDeletionSulfite oxidase deficiency due to molybdenum cofactor deficiency type B|Combined molybdoflavoprotein enzyme deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.