NM_000053.3:c.3620A>G

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  2. NM_000053.3:c.3620A>G

HGVS Expressions

  • NG_008806.1:g.77365A>G
  • NM_000053.3:c.3620A>G
  • NP_000044.2:p.His1207Arg
  • NC_000013.11:g.51939130T>C

Associated Genes

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

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

7334118

Clinvar

35724

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.8Egypt2Likely PathogenicAbdel Ghaffar et al. 2011
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Contributors

  • Pratibha Nair: 13.06.2018

Edit History

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