Variant (rsID / SNP)

rs201497300

rs201497300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP7B. Location: chromosome 13, position 52,520,473. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ATP7BPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:52520473
Cytoband: 13q14.3
HGVS: NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr)
Allele change: Missense_A919T

Associated conditions / phenotypes

Wilson disease|Epileptic encephalopathy

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.