Variant (rsID / SNP)

rs28942074

rs28942074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,532,469. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATP7BPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:52532469
Cytoband: 13q14.3
HGVS: NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
Allele change: Missense_R694L

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.