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Variant (rsID / SNP)

rs61751281

RPE65

rs61751281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,912,520. 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
1:68912520
Cytoband
1p31.3
HGVS
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
Allele change
Missense_G40S

Associated conditions / phenotypes

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

Public references

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