Variant (rsID / SNP)
rs1057517384
rs1057517384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,548,966. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ATP7BPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Duplication
- Chromosome / position
- 13:52548966
- Cytoband
- 13q14.3
- HGVS
- NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs)
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.