Variant (rsID / SNP)
rs775055397
rs775055397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,520,472. 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
- 13:52520472
- Cytoband
- 13q14.3
- HGVS
- NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val)
- Allele change
- Missense_A919V
Associated conditions / phenotypes
Wilson disease|Abnormality of metabolism/homeostasis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.