Variant (rsID / SNP)

rs28940314

rs28940314 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RDH12. Location: chromosome 14, position 68,191,267. Clinical significance in the table: Pathogenic.

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Reference-table entries

RDH12Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:68191267
Cytoband: 14q24.1
HGVS: NM_152443.3(RDH12):c.146C>T (p.Thr49Met)
Allele change: Missense_T49K

Associated conditions / phenotypes

Leber congenital amaurosis 13|Leber congenital amaurosis|Cone-rod 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.