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Variant (rsID / SNP)

rs142326926

AIPL1

rs142326926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIPL1. Location: chromosome 17, position 6,329,935. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

AIPL1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:6329935
Cytoband
17p13.2
HGVS
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)
Allele change
Missense_G238S

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.