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Variant (rsID / SNP)

rs189601972

ATP7B

rs189601972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,509,077. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATP7BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:52509077
Cytoband
13q14.3
HGVS
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)
Allele change
Missense_G1321S

Associated conditions / phenotypes

Wilson disease

Public references

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