NM_000053.3:c.2634T>A/G

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  2. NM_000053.3:c.2634T>A/G

HGVS Expressions

  • NG_008806.1:g.66397A>G
  • NM_000053.3:c.2634T>A/G
  • NP_000044.2:p.p.Asn878Lys

Associated Genes

ATPase, Cu(2+)-Transporting, Beta Polypeptide
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Genomic Location

Chr13:51950104

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.26Egypt1PathogenicWilson DiseaseAbdelghaffar et al. 2008 Wilson Disease
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Contributors

  • Pratibha Nair: 13.06.2018

Edit History

  • Rahila Mir: 22.02.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 30.12.2018
  • Pratibha Nair: 27.12.2018
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.