Variant (rsID / SNP)

rs73112142

rs73112142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRPH. Location: chromosome 12, position 49,691,057. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PRPHConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:49691057
Cytoband: 12q13.12
HGVS: NM_006262.4(PRPH):c.996+1G>A
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.