Variant (rsID / SNP)

rs78526307

rs78526307 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIPL1. Location: chromosome 17, position 6,327,122. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AIPL1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:6327122
Cytoband: 17p13.2
HGVS: NM_014336.5(AIPL1):c.*1658T>C
Allele change: Silent

Associated conditions / phenotypes

Leber congenital amaurosis 4|Retinitis pigmentosa|Retinitis Pigmentosa, Recessive

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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