Variant (rsID / SNP)
rs2233218
rs2233218 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MOCS2. Location: chromosome 5, position 52,397,199. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MOCS2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:52397199
- Cytoband
- 5q11.2
- HGVS
- NM_004531.5(MOCS2):c.367C>T (p.His123Tyr)
- Allele change
- Silent
Associated conditions / phenotypes
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.