Variant (rsID / SNP)
rs78920863
rs78920863 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRHPR. Location: chromosome 9, position 37,425,990. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
GRHPRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:37425990
- Cytoband
- 9p13.2
- HGVS
- NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
- Allele change
- Missense_R96C
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.