Gene entry
AIPL1
AIP like 1 HSP90 co-chaperone
- Chromosome
- 17
- Cytoband
- 17p13.2
- Variants (rsID)
- 18
AIPL1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17p13.2). Its official name is “AIP like 1 HSP90 co-chaperone”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs2292546Benignsingle nucleotide variantRetinitis Pigmentosa, Dominant|Retinitis pigmentosa|Leber congenital amaurosis 4
- rs78526307Benignsingle nucleotide variantLeber congenital amaurosis 4|Retinitis pigmentosa|Retinitis Pigmentosa, Recessive
- rs907939Benignsingle nucleotide variantRetinitis Pigmentosa, Recessive|Leber congenital amaurosis 4|Retinitis pigmentosa
- rs143092701Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 4
- rs150656720Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 4
- rs16955851Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 1|Leber congenital amaurosis 4
- rs188246267Conflicting interpretationssingle nucleotide variantRetinitis Pigmentosa, Recessive|Retinitis Pigmentosa, Dominant|Leber congenital amaurosis 4
- rs62637015Conflicting interpretationssingle nucleotide variantLeber congenital amaurosis 4|Leber congenital amaurosis 1
- rs62637017Conflicting interpretationssingle nucleotide variantRetinitis Pigmentosa, Recessive|Retinitis pigmentosa|Leber congenital amaurosis 4
- rs142326926Pathogenicsingle nucleotide variantLeber congenital amaurosis 4
- rs62637014Pathogenicsingle nucleotide variantLeber congenital amaurosis 4|AIPL1-Related Disorders|Leber congenital amaurosis|Retinal dystrophy
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.