Variant (rsID / SNP)
rs768729972
rs768729972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,532,636. Clinical significance in the table: Pathogenic.
Reference-table entries
ATP7BPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 13:52532636
- Cytoband
- 13q14.3
- HGVS
- NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
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.