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Variant (rsID / SNP)

rs116733939

RDH12

rs116733939 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RDH12. Location: chromosome 14, position 68,193,773. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RDH12Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
14:68193773
Cytoband
14q24.1
HGVS
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)
Allele change
Missense_S175L

Associated conditions / phenotypes

Leber congenital amaurosis|Leber congenital amaurosis 13

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.