NM_000053.4:c.3007G>A

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HGVS Expressions

  • NG_008806.1:g.70158G>A
  • NM_000053.4:c.3007G>A
  • NP_000044.2:p.Ala1003Thr
  • NC_000013.11:g.51946337C>T

Associated Genes

ATPase, Cu(2+)-Transporting, Beta Polypeptide
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

201497300

Clinvar

188802

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.34.3Lebanon1PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.4Lebanon1PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.5Lebanon1PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.6Lebanon1PathogenicWilson DiseaseUsta et al, 2014 Relative of 277900.34.1
277900.34.G.2Lebanon12PathogenicUsta et al, 2014 Unaffected carriers belonging to the sam...
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Contributors

  • Sayeeda Hana: 27.08.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 03.03.2020
  • Sayeeda Hana: 27.08.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.