Variant (rsID / SNP)
rs137853281
rs137853281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,516,532. Clinical significance in the table: Pathogenic.
Reference-table entries
ATP7BPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 13:52516532
- Cytoband
- 13q14.3
- HGVS
- NM_000053.4(ATP7B):c.3402del (p.Ala1135fs)
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.