Variant (rsID / SNP)

rs267606764

rs267606764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOGA1. Location: chromosome 10, position 99,361,682. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

HOGA1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:99361682
Cytoband: 10q24.2
HGVS: NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)
Allele change: Missense_C94G

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.