Variant (rsID / SNP)
rs1480243085
rs1480243085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to USH1C. Location: chromosome 11, position 17,548,589. Clinical significance in the table: Pathogenic.
Reference-table entries
USH1CPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 11:17548589
- Cytoband
- 11p15.1
- HGVS
- NM_153676.4(USH1C):c.497-2del
Associated conditions / phenotypes
Usher syndrome type 1C|Usher syndrome type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.