Variant (rsID / SNP)

rs150656720

rs150656720 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIPL1. Location: chromosome 17, position 6,337,375. 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: 17:6337375
Cytoband: 17p13.2
HGVS: NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg)
Allele change: Missense_T47R

Associated conditions / phenotypes

Leber congenital amaurosis 4

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.