Variant (rsID / SNP)

rs61752904

rs61752904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,904,716. Clinical significance in the table: Pathogenic.

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Reference-table entries

RPE65Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:68904716
Cytoband: 1p31.3
HGVS: NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
Allele change: Nonsense_K303X

Associated conditions / phenotypes

Leber congenital amaurosis 2

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.