Gene entry
ATP7B
ATPase copper transporting beta
- Chromosome
- 13
- Cytoband
- 13q14.3
- Variants (rsID)
- 186
ATP7B is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q14.3). Its official name is “ATPase copper transporting beta”. The reference table lists 186 variants (rsID) for this gene.
Clinically classified variants
160 reference-table entries with clinical significance.
- rs1051332Benignsingle nucleotide variantWilson disease
- rs1061472Benignsingle nucleotide variantWilson disease
- rs114771537Benignsingle nucleotide variantWilson disease
- rs1801243Benignsingle nucleotide variantWilson disease
- rs1801244Benignsingle nucleotide variantWilson disease
- rs1801246Benignsingle nucleotide variantWilson disease
- rs1801249Benignsingle nucleotide variantWilson disease
- rs732774Benignsingle nucleotide variantWilson disease
- rs7334118Benignsingle nucleotide variantWilson disease
- rs73498144Benignsingle nucleotide variantWilson disease
- rs74085882Benignsingle nucleotide variantWilson disease
- rs121907994Conflicting interpretationssingle nucleotide variantWilson disease
- rs138427376Conflicting interpretationssingle nucleotide variantWilson disease
- rs140708492Conflicting interpretationssingle nucleotide variantWilson disease
- rs1801248Conflicting interpretationssingle nucleotide variantWilson disease
- rs186924074Conflicting interpretationssingle nucleotide variantWilson disease
- rs187343742Conflicting interpretationssingle nucleotide variantWilson disease
- rs189601972Conflicting interpretationssingle nucleotide variantWilson disease
- rs191312027Conflicting interpretationssingle nucleotide variantWilson disease|Inborn genetic diseases
- rs193922104Conflicting interpretationssingle nucleotide variantWilson disease
- rs199821556Conflicting interpretationssingle nucleotide variantWilson disease
- rs200171850Conflicting interpretationssingle nucleotide variantWilson disease
- rs200597654Conflicting interpretationssingle nucleotide variantWilson disease
- rs200911496Conflicting interpretationssingle nucleotide variantWilson disease
- rs370947152Conflicting interpretationssingle nucleotide variantWilson disease
- rs372436901Conflicting interpretationssingle nucleotide variantWilson disease
- rs374628199Conflicting interpretationssingle nucleotide variantWilson disease
- rs377297166Conflicting interpretationssingle nucleotide variantWilson disease
- rs41292782Conflicting interpretationssingle nucleotide variantWilson disease
- rs587783309Conflicting interpretationssingle nucleotide variantWilson disease
- rs587783314Conflicting interpretationssingle nucleotide variantWilson disease
- rs587783318Conflicting interpretationssingle nucleotide variantWilson disease
- rs60986317Conflicting interpretationssingle nucleotide variantWilson disease
- rs61733680Conflicting interpretationssingle nucleotide variantWilson disease
- rs770362811Conflicting interpretationssingle nucleotide variantWilson disease
- rs778749563Conflicting interpretationssingle nucleotide variantWilson disease
- rs786204718Conflicting interpretationssingle nucleotide variantWilson disease
- rs1057516227Likely pathogenicDeletionWilson disease
- rs1057516228Likely pathogenicDeletionWilson disease
- rs1057516425Likely pathogenicsingle nucleotide variantWilson disease
- rs1057516516Likely pathogenicsingle nucleotide variantWilson disease
- rs1057516740Likely pathogenicDeletionWilson disease
- rs1057516940Likely pathogenicDuplicationWilson disease
- rs1057517024Likely pathogenicsingle nucleotide variantWilson disease
- rs1057517141Likely pathogenicInsertionWilson disease
- rs1057517191Likely pathogenicDeletionWilson disease
- rs1057517351Likely pathogenicsingle nucleotide variantWilson disease
- rs1057518867Likely pathogenicsingle nucleotide variantKayser-Fleischer ring|Hand tremor|Wilson disease
- rs1057520235Likely pathogenicsingle nucleotide variantWilson disease
- rs1060499593Likely pathogenicDeletionWilson disease
- rs1064796054Likely pathogenicDeletion
- rs1213481140Likely pathogenicsingle nucleotide variantWilson disease
- rs1319653818Likely pathogenicsingle nucleotide variantWilson disease
- rs1412025509Likely pathogenicsingle nucleotide variantWilson disease
- rs1474837260Likely pathogenicsingle nucleotide variantWilson disease
- rs1486594906Likely pathogenicsingle nucleotide variantWilson disease
- rs376355660Likely pathogenicsingle nucleotide variantWilson disease
- rs748924063Likely pathogenicDuplicationWilson disease
- rs749085322Likely pathogenicsingle nucleotide variantWilson disease
- rs759749626Likely pathogenicsingle nucleotide variantWilson disease
- rs774028495Likely pathogenicsingle nucleotide variantWilson disease
- rs775541743Likely pathogenicsingle nucleotide variantWilson disease
- rs786204643Likely pathogenicsingle nucleotide variantWilson disease
- rs786204658Likely pathogenicsingle nucleotide variantWilson disease
- rs786204764Likely pathogenicDeletionWilson disease
- rs1057516305Pathogenicsingle nucleotide variantWilson disease
- rs1057516380Pathogenicsingle nucleotide variantWilson disease
- rs1057516418PathogenicDuplicationWilson disease
- rs1057516479Pathogenicsingle nucleotide variantWilson disease
- rs1057516561PathogenicDuplicationWilson disease
- rs1057516643PathogenicDeletionWilson disease
- rs1057516844Pathogenicsingle nucleotide variantWilson disease
- rs1057516893PathogenicDeletionWilson disease
- rs1057517233Pathogenicsingle nucleotide variantWilson disease
- rs1057517310Pathogenicsingle nucleotide variantWilson disease
- rs1057517384PathogenicDuplicationWilson disease
- rs1057517444PathogenicDeletionWilson disease
- rs1064797072Pathogenicsingle nucleotide variantWilson disease
- rs121907990Pathogenicsingle nucleotide variantWilson disease
- rs121907992Pathogenicsingle nucleotide variantWilson disease
- rs121907993Pathogenicsingle nucleotide variantWilson disease
- rs121907996Pathogenicsingle nucleotide variantWilson disease
- rs121907997Pathogenicsingle nucleotide variantWilson disease
- rs121907998Pathogenicsingle nucleotide variantWilson disease
- rs121907999Pathogenicsingle nucleotide variantWilson disease
- rs121908000Pathogenicsingle nucleotide variantWilson disease
- rs121908001Pathogenicsingle nucleotide variantWilson disease
- rs1248002612Pathogenicsingle nucleotide variantWilson disease
- rs1286080173Pathogenicsingle nucleotide variantWilson disease
- rs137853281PathogenicDeletionWilson disease
- rs137853283Pathogenicsingle nucleotide variantWilson disease
- rs137853284Pathogenicsingle nucleotide variantWilson disease
- rs137853285Pathogenicsingle nucleotide variantWilson disease
- rs1394999756Pathogenicsingle nucleotide variantWilson disease
- rs1412593296Pathogenicsingle nucleotide variantWilson disease
- rs184388696Pathogenicsingle nucleotide variantWilson disease
- rs193922102Pathogenicsingle nucleotide variantWilson disease
- rs193922103Pathogenicsingle nucleotide variantWilson disease
- rs193922107Pathogenicsingle nucleotide variantWilson disease
- rs193922109Pathogenicsingle nucleotide variantWilson disease
- rs193922111PathogenicDeletionWilson disease
- rs201038679Pathogenicsingle nucleotide variantWilson disease
- rs201497300Pathogenicsingle nucleotide variantWilson disease|Epileptic encephalopathy
- rs201738967Pathogenicsingle nucleotide variantWilson disease
- rs28942074Pathogenicsingle nucleotide variantWilson disease
- rs28942075Pathogenicsingle nucleotide variantWilson disease
- rs28942076Pathogenicsingle nucleotide variantWilson disease
- rs367956522Pathogenicsingle nucleotide variantWilson disease
- rs369488210Pathogenicsingle nucleotide variantWilson disease
- rs371840514Pathogenicsingle nucleotide variantWilson disease
- rs374094065Pathogenicsingle nucleotide variantWilson disease
- rs376910645Pathogenicsingle nucleotide variantWilson disease
- rs398123137Pathogenicsingle nucleotide variantWilson disease
- rs558037268PathogenicDeletionWilson disease
- rs572147914Pathogenicsingle nucleotide variantWilson disease|Intellectual disability, Wolff type
- rs587783307Pathogenicsingle nucleotide variantWilson disease
- rs587783317Pathogenicsingle nucleotide variantWilson disease
- rs60431989Pathogenicsingle nucleotide variantWilson disease|See cases
- rs72552285Pathogenicsingle nucleotide variantWilson disease
- rs746485916Pathogenicsingle nucleotide variantWilson disease
- rs749472361Pathogenicsingle nucleotide variantWilson disease
- rs750019452Pathogenicsingle nucleotide variantWilson disease
- rs751710854Pathogenicsingle nucleotide variantWilson disease
- rs753236073Pathogenicsingle nucleotide variantWilson disease
- rs753250853Pathogenicsingle nucleotide variantWilson disease
- rs753594031Pathogenicsingle nucleotide variantWilson disease
- rs753962912PathogenicDeletionWilson disease|Spastic ataxia
- rs755554442Pathogenicsingle nucleotide variantWilson disease
- rs755584106Pathogenicsingle nucleotide variantWilson disease
- rs755709270PathogenicDeletionWilson disease
- rs756029120Pathogenicsingle nucleotide variantWilson disease
- rs758355520Pathogenicsingle nucleotide variantWilson disease
- rs76151636Pathogenicsingle nucleotide variantWilson disease
- rs761632029Pathogenicsingle nucleotide variantWilson disease
- rs764131178Pathogenicsingle nucleotide variantWilson disease
- rs766149114Pathogenicsingle nucleotide variantWilson disease
- rs768671894Pathogenicsingle nucleotide variantWilson disease
- rs768729972PathogenicDuplicationWilson disease
- rs774221179Pathogenicsingle nucleotide variantWilson disease
- rs775055397Pathogenicsingle nucleotide variantWilson disease|Abnormality of metabolism/homeostasis
- rs776280797Pathogenicsingle nucleotide variantWilson disease
- rs776848753Pathogenicsingle nucleotide variantWilson disease
- rs778675259Pathogenicsingle nucleotide variantWilson disease
- rs779323689Pathogenicsingle nucleotide variantWilson disease
- rs780327716PathogenicDeletionWilson disease
- rs781266802PathogenicDeletionWilson disease
- rs786204483Pathogenicsingle nucleotide variantWilson disease
- rs786204547Pathogenicsingle nucleotide variantWilson disease
- rs786204570PathogenicDuplicationWilson disease
- rs786204578Pathogenicsingle nucleotide variantWilson disease
- rs786204584Pathogenicsingle nucleotide variantWilson disease
- rs797045083PathogenicDeletionWilson disease
- rs797045402Pathogenicsingle nucleotide variantWilson disease
- rs886041336PathogenicDeletionWilson disease
- rs886042519PathogenicDeletionWilson disease
- rs886043238PathogenicDuplication
- rs184868522Uncertain significancesingle nucleotide variantWilson disease|Inborn genetic diseases
- rs193922108Uncertain significancesingle nucleotide variantWilson disease
- rs539585071Uncertain significancesingle nucleotide variantWilson disease
- rs879255499Not classifiedDeletionWilson disease
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.