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Variant (rsID / SNP)

rs143092701

AIPL1

rs143092701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIPL1. Location: chromosome 17, position 6,328,929. 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
17:6328929
Cytoband
17p13.2
HGVS
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr)
Allele change
Missense_A312T

Associated conditions / phenotypes

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.