Variant (rsID / SNP)

rs2655655

rs2655655 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LCA5. Location: chromosome 6, position 80,228,541. Clinical significance in the table: Benign.

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Reference-table entries

LCA5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 6:80228541
Cytoband: 6q14.1
HGVS: NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser)
Allele change: Missense_L24S

Associated conditions / phenotypes

Leber congenital amaurosis 5|Leber congenital amaurosis 1

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.