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Variant (rsID / SNP)

rs62636300

RPE65

rs62636300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,897,011. 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
1:68897011
Cytoband
1p31.3
HGVS
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
Allele change
Missense_Y431C

Associated conditions / phenotypes

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

Public references

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