Variant (rsID / SNP)

rs61752901

rs61752901 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RPE65. Location: chromosome 1, position 68,904,742. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RPE65Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:68904742
Cytoband: 1p31.3
HGVS: NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
Allele change: Missense_K294T

Associated conditions / phenotypes

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