Variant (rsID / SNP)

rs398122798

rs398122798 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MOCS2. Location: chromosome 5, position 52,397,217. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MOCS2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: Deletion
Chromosome / position: 5:52397217
Cytoband: 5q11.2
HGVS: NM_004531.5(MOCS2):c.346_349del (p.Val116fs)

Associated conditions / phenotypes

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B|Combined molybdoflavoprotein enzyme deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.