Variant (rsID / SNP)
rs200171850
rs200171850 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,544,615. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ATP7BConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:52544615
- Cytoband
- 13q14.3
- HGVS
- NM_000053.4(ATP7B):c.1543+13C>T
- Allele change
- Silent
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.