Variant (rsID / SNP)
rs1057516305
rs1057516305 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,544,799. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ATP7BPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:52544799
- Cytoband
- 13q14.3
- HGVS
- NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter)
- Allele change
- Nonsense_E458X
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.