Variant (rsID / SNP)

rs9343917

rs9343917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LCA5, SH3BGRL2. Location: chromosome 6, position 80,246,820. Clinical significance in the table: Uncertain significance.

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Reference-table entries

LCA5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 6:80246820
Cytoband: 6q14.1
HGVS: NM_001122769.3(LCA5):c.-192+62T>G
Allele change: Silent

Associated conditions / phenotypes

Leber congenital amaurosis 5

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.