Variant (rsID / SNP)

rs267606762

rs267606762 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOGA1. Location: chromosome 10, position 99,358,609. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HOGA1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:99358609
Cytoband: 10q24.2
HGVS: NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
Allele change: Silent

Associated conditions / phenotypes

Primary hyperoxaluria type 3

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.