Variant (rsID / SNP)

rs28940313

rs28940313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RDH12, ZFYVE26. Location: chromosome 14, position 68,195,926. 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: 14:68195926
Cytoband: 14q24.1
HGVS: NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)
Allele change: Missense_Y226C

Associated conditions / phenotypes

Leber congenital amaurosis 13|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.