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Variant (rsID / SNP)

rs16955851

AIPL1

rs16955851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIPL1. Location: chromosome 17, position 6,331,702. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AIPL1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:6331702
Cytoband
17p13.2
HGVS
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
Allele change
Missense_Y134F

Associated conditions / phenotypes

Leber congenital amaurosis 1|Leber congenital amaurosis 4

Public references

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