Variant (rsID / SNP)

rs185803104

rs185803104 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOGA1. Location: chromosome 10, position 99,359,925. Clinical significance in the table: Pathogenic.

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Reference-table entries

HOGA1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:99359925
Cytoband: 10q24.2
HGVS: NM_138413.4(HOGA1):c.700+5G>T
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.