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Variant (rsID / SNP)

rs28940315

RDH12

rs28940315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RDH12. Location: chromosome 14, position 68,191,923. 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
14:68191923
Cytoband
14q24.1
HGVS
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
Allele change
Missense_L99I

Associated conditions / phenotypes

Leber congenital amaurosis 13|Retinitis pigmentosa|Retinal dystrophy|Leber congenital amaurosis

Public references

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