NM_000053.3:c.2049_2053delCCTTGGinsTTTC

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  2. NM_000053.3:c.2049_2053delCCTTGGinsTTTC

HGVS Expressions

  • NG_008806.1:g.56275_56279
  • NM_000053.3:c.2049_2053delCCTTGGinsTTTC
  • NP_000044.2:p.Val683_Leu684delinVal

Associated Genes

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

Chr13:51960216_51960220

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.15Egypt2PathogenicAbdel 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.