Variant (rsID / SNP)

rs201062742

rs201062742 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,912,414. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RPE65Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:68912414
Cytoband: 1p31.3
HGVS: NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)
Allele change: Missense_G75E

Associated conditions / phenotypes

Leber congenital amaurosis 2|Retinitis pigmentosa

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.