Variant (rsID / SNP)

rs2292546

rs2292546 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIPL1. Location: chromosome 17, position 6,330,068. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AIPL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:6330068
Cytoband: 17p13.2
HGVS: NM_014336.5(AIPL1):c.651A>G (p.Pro217=)
Allele change: Silent

Associated conditions / phenotypes

Retinitis Pigmentosa, Dominant|Retinitis pigmentosa|Leber congenital amaurosis 4

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.