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Variant (rsID / SNP)

rs104894187

RGR

rs104894187 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RGR. Location: chromosome 10, position 86,007,463. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RGRConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
10:86007463
Cytoband
10q23.1
HGVS
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)
Allele change
Missense_S66R

Associated conditions / phenotypes

Retinitis pigmentosa 44|Cone dystrophy

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.