Variant (rsID / SNP)

rs398122797

rs398122797 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MOCS2. Location: chromosome 5, position 52,394,459. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MOCS2Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 5:52394459
Cytoband: 5q11.2
HGVS: NM_004531.5(MOCS2):c.539_540del (p.Lys180fs)

Associated conditions / phenotypes

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B|Abnormality of metabolism/homeostasis

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.