Variant (rsID / SNP)

rs138207257

rs138207257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HOGA1. Location: chromosome 10, position 99,371,292. 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: 10:99371292
Cytoband: 10q24.2
HGVS: NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
Allele change: Missense_G124V

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.