Variant (rsID / SNP)

rs1057516516

rs1057516516 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,549,253. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ATP7BLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:52549253
Cytoband: 13q14.3
HGVS: NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter)
Allele change: Nonsense_K35X

Associated conditions / phenotypes

Wilson disease

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.