Variant (rsID / SNP)

rs62653015

rs62653015 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,895,610. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

RPE65Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:68895610
Cytoband: 1p31.3
HGVS: NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
Allele change: Missense_G484D

Associated conditions / phenotypes

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

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.