Variant (rsID / SNP)

rs1057517024

rs1057517024 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,539,171. 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: single nucleotide variant
Chromosome / position: 13:52539171
Cytoband: 13q14.3
HGVS: NM_000053.4(ATP7B):c.1708-2A>G
Allele change: Silent

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.