Variant (rsID / SNP)

rs57451017

rs57451017 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPH. Location: chromosome 12, position 49,689,009. Clinical significance in the table: Benign.

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Reference-table entries

PRPHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:49689009
Cytoband: 12q13.12
HGVS: NM_006262.4(PRPH):c.26G>A (p.Arg9Gln)
Allele change: Silent

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.