Variant (rsID / SNP)
rs61752071
rs61752071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RS1. Clinical significance in the table: Pathogenic.
Reference-table entries
RS1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Cytoband
- Xp22.13
- HGVS
- NM_000330.4(RS1):c.318dup (p.Gly107fs)
Associated conditions / phenotypes
Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.