Variant (rsID / SNP)

rs180177307

rs180177307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRHPR. Location: chromosome 9, position 37,426,584. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GRHPRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:37426584
Cytoband: 9p13.2
HGVS: NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
Allele change: Missense_E113K

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.