Variant (rsID / SNP)

rs104894082

rs104894082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP1. Location: chromosome 8, position 55,538,471. Clinical significance in the table: Pathogenic.

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Reference-table entries

RP1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:55538471
Cytoband: 8q12.1
HGVS: NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)
Allele change: Nonsense_R677X

Associated conditions / phenotypes

Retinitis pigmentosa 1|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.