NM_000053.3:c.3734G>T

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  2. NM_000053.3:c.3734G>T

HGVS Expressions

  • NG_008806.1:g.78850G>T
  • NM_000053.3:c.3734G>T
  • NP_000044.2:p.Pro1245Leu

Associated Genes

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

Chr13:51937645

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
277900.13Egypt2PathogenicWilson DiseaseAbdel Ghaffar et al. 2011
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Contributors

  • Pratibha Nair: 13.06.2018

Edit History

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