Variant (rsID / SNP)

rs121908007

rs121908007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SUOX. Location: chromosome 12, position 56,397,823. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SUOXLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:56397823
Cytoband: 12q13.2
HGVS: NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln)
Allele change: Missense_R217Q

Associated conditions / phenotypes

Sulfite oxidase 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.