Variant (rsID / SNP)

rs121918165

rs121918165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LCA5. Location: chromosome 6, position 80,203,353. Clinical significance in the table: Pathogenic.

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Reference-table entries

LCA5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:80203353
Cytoband: 6q14.1
HGVS: NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)
Allele change: Nonsense_Q279X

Associated conditions / phenotypes

Leber congenital amaurosis 5|Inborn genetic diseases|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.