Variant (rsID / SNP)

rs62637014

rs62637014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIPL1. Location: chromosome 17, position 6,329,101. Clinical significance in the table: Pathogenic.

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Reference-table entries

AIPL1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:6329101
Cytoband: 17p13.2
HGVS: NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
Allele change: Nonsense_W254X

Associated conditions / phenotypes

Leber congenital amaurosis 4|AIPL1-Related Disorders|Leber congenital amaurosis|Retinal dystrophy

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.