Variant (rsID / SNP)

rs309458

rs309458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRHPR. Location: chromosome 9, position 37,429,814. Clinical significance in the table: Benign.

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Reference-table entries

GRHPRBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 9:37429814
Cytoband: 9p13.2
HGVS: NM_012203.2(GRHPR):c.579A>G (p.Ala193=)
Allele change: Synonymous_A193A

Associated conditions / phenotypes

Primary hyperoxaluria, type II

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.