NM_000053.3:c.3443T>C

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  2. NM_000053.3:c.3443T>C

HGVS Expressions

  • NG_008806.1:g.75301T>C
  • NM_000053.3:c.3443T>C
  • NP_000044.2:p.Ile1148Thr
  • NC_000013.11:g.51941194A>G

Associated Genes

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

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

60431989

Clinvar

37122

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.27Egypt1PathogenicWilson DiseaseAbdelghaffar et al. 2008 Wilson Disease
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Contributors

  • Pratibha Nair: 13.06.2018

Edit History

  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 30.12.2018
  • Pratibha Nair: 27.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.