Variant (rsID / SNP)

rs104894926

rs104894926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RP2. Clinical significance in the table: Pathogenic.

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Reference-table entries

RP2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.3
HGVS: NM_006915.3(RP2):c.453C>G (p.Tyr151Ter)
Allele change: Nonsense_Y151X

Associated conditions / phenotypes

Retinitis pigmentosa 2

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.