Variant (rsID / SNP)
rs374094065
rs374094065 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,518,297. 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
- 13:52518297
- Cytoband
- 13q14.3
- HGVS
- NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
- Allele change
- Missense_E980A
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.