Variant (rsID / SNP)
rs61750458
rs61750458 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RS1. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RS1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Cytoband
- Xp22.13
- HGVS
- NM_000330.4(RS1):c.253_255del (p.Asn85del)
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.