Variant (rsID / SNP)
rs1057516940
rs1057516940 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,539,056. Clinical significance in the table: Likely pathogenic.
Reference-table entries
ATP7BLikely pathogenic
- Clinical significance (as recorded)
- Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 13:52539056
- Cytoband
- 13q14.3
- HGVS
- NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)
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.