Variant (rsID / SNP)
rs180177316
rs180177316 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRHPR. Location: chromosome 9, position 37,430,517. Clinical significance in the table: Pathogenic.
Reference-table entries
GRHPRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 9:37430517
- Cytoband
- 9p13.2
- HGVS
- NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)
Associated conditions / phenotypes
Primary hyperoxaluria, type II
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.