Variant (rsID / SNP)

rs104894927

rs104894927 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.358C>T (p.Arg120Ter)
Allele change: Nonsense_R120X

Associated conditions / phenotypes

Retinitis pigmentosa 2|Retinitis pigmentosa|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.