Variant (rsID / SNP)

rs1057516227

rs1057516227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,511,490. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATP7BLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 13:52511490
Cytoband: 13q14.3
HGVS: NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)

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.