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Variant (rsID / SNP)

rs61751276

RPE65

rs61751276 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,915,573. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RPE65Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:68915573
Cytoband
1p31.3
HGVS
NM_000329.3(RPE65):c.11+5G>A
Allele change
Silent

Associated conditions / phenotypes

Leber congenital amaurosis 2|Retinal dystrophy|Retinitis pigmentosa 20|Leber congenital amaurosis 2|Retinitis pigmentosa 20|Leber congenital amaurosis

Public references

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