Variant (rsID / SNP)

rs1057516228

rs1057516228 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,511,485. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

ATP7BLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 13:52511485
Cytoband: 13q14.3
HGVS: NM_000053.4(ATP7B):c.3948del (p.Thr1317fs)

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.