Variant (rsID / SNP)
rs780327716
rs780327716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,539,095. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ATP7BPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Deletion
- Chromosome / position
- 13:52539095
- Cytoband
- 13q14.3
- HGVS
- NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer)
Associated conditions / phenotypes
Wilson disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.