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Variant (rsID / SNP)

rs188246267

AIPL1

rs188246267 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIPL1. Location: chromosome 17, position 6,338,441. 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
17:6338441
Cytoband
17p13.2
HGVS
NM_014336.5(AIPL1):c.-17C>A
Allele change
Silent

Associated conditions / phenotypes

Retinitis Pigmentosa, Recessive|Retinitis Pigmentosa, Dominant|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.