Variant (rsID / SNP)
rs104894930
rs104894930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RS1. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
RS1Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xp22.13
- HGVS
- NM_000330.4(RS1):c.608C>T (p.Pro203Leu)
- Allele change
- Silent
Associated conditions / phenotypes
Juvenile retinoschisis|Retinal dystrophy|Retinoschisis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.