Variant (rsID / SNP)

rs606231423

rs606231423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RDH11. Location: chromosome 14, position 68,159,305. Clinical significance in the table: Pathogenic.

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Reference-table entries

RDH11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:68159305
Cytoband: 14q24.1
HGVS: NM_016026.4(RDH11):c.199C>T (p.Arg67Ter)
Allele change: Nonsense_R67X

Associated conditions / phenotypes

Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome

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.