Variant (rsID / SNP)

rs572147914

rs572147914 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,548,543. 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: 13:52548543
Cytoband: 13q14.3
HGVS: NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
Allele change: Nonsense_C271X

Associated conditions / phenotypes

Wilson disease|Intellectual disability, Wolff type

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.