Variant (rsID / SNP)

rs62642584

rs62642584 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,910,508. The table records no clinical significance for this variant.

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Reference-table entries

RPE65Not classified

Variant type: single nucleotide variant
Chromosome / position: 1:68910508
Cytoband: 1p31.3
HGVS: NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)
Allele change: Nonsense_E102X

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.